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Information on EC 3.1.6.1 - arylsulfatase (type I) and Organism(s) Homo sapiens and UniProt Accession Q6UWY0
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3.1.6.1 arylsulfatase (type I)IUBMB Comments
Sulfatase enzymes are classified as type I, in which the key catalytic residue is 3-oxo-L-alanine, type II, which are non-heme iron-dependent dioxygenases, or type III, whose catalytic domain adopts a metallo-beta-lactamase fold and binds two zinc ions as cofactors. Arylsulfatases are type I enzymes, found in both prokaryotes and eukaryotes, with rather similar specificities. The key catalytic residue 3-oxo-L-alanine initiates the reaction through a nucleophilic attack on the sulfur atom in the substrate. This residue is generated by posttranslational modification of a conserved cysteine or serine residue by EC 1.8.3.7, formylglycine-generating enzyme, EC 1.1.98.7, serine-type anaerobic sulfatase-maturating enzyme, or EC 1.8.98.7, cysteine-type anaerobic sulfatase-maturating enzyme.
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Word Map
- 3.1.6.1
- lysosomal
-
metachromatic
- leukodystrophy
- beta-glucuronidase
- steroid
- urine
- mucopolysaccharidosis
- sulfatide
- leukocyte
- urinary
- asa
- estrone
- glycosaminoglycans
-
glucuronide
- demyelination
- cerebroside
- urease
-
sulfotransferase
- aromatase
- heparan
- beta-glucosidase
-
desulfation
- dehydroepiandrosterone
- dermatan
-
infantile
-
17beta-hydroxysteroid
-
mucopolysaccharide
- pomatia
- ichthyosis
- hexosaminidase
- morquio
-
saposins
-
iduronate
- 17beta-hsds
- galactosylceramide
- alpha-fucosidase
-
chondrodysplasia
-
hspgs
- synthesis
- medicine
-
deconjugation
- analysis
-
6-o-sulfate
- tibolone
- alpha-l-iduronidase
-
loam
-
sanfilippo
- galns
- punctata
- mucolipidosis
- sulfamate
- 4-sulfate
- dysostosis
The taxonomic range for the selected organisms is: Homo sapiens
The expected taxonomic range for this enzyme is: Eukaryota, Bacteria, Archaea
The expected taxonomic range for this enzyme is: Eukaryota, Bacteria, Archaea
Synonyms
sulfatase, arylsulfatase a, arylsulfatase, arylsulphatase, arylsulfatase b, arylsulphatase a, estrogen sulfatase, ars-a, arylsulfatase e, arylsulfatase g, 
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SYNONYM 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
4-methylumbelliferyl sulfatase
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-
-
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ARS
-
-
-
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ARSA
Aryl-sulfate sulphohydrolase
-
-
-
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arylsulfatase
-
-
-
-
arylsulfohydrolase
-
-
-
-
arylsulphatase
-
-
-
-
estrogen sulfatase
-
-
-
-
nitrocatechol sulfatase
-
-
-
-
p-nitrophenyl sulfatase
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-
-
-
phenolsulfatase
-
-
-
-
phenylsulfatase
-
-
-
-
sulfatase
sulfatase, aryl-
-
-
-
-
sulfatase
-
-
-
-
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REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
hydrolysis of sulfuric ester
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-
-
-
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PATHWAY SOURCE
PATHWAYS
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SYSTEMATIC NAME
IUBMB Comments
aryl-sulfate sulfohydrolase
Sulfatase enzymes are classified as type I, in which the key catalytic residue is 3-oxo-L-alanine, type II, which are non-heme iron-dependent dioxygenases, or type III, whose catalytic domain adopts a metallo-beta-lactamase fold and binds two zinc ions as cofactors. Arylsulfatases are type I enzymes, found in both prokaryotes and eukaryotes, with rather similar specificities. The key catalytic residue 3-oxo-L-alanine initiates the reaction through a nucleophilic attack on the sulfur atom in the substrate. This residue is generated by posttranslational modification of a conserved cysteine or serine residue by EC 1.8.3.7, formylglycine-generating enzyme, EC 1.1.98.7, serine-type anaerobic sulfatase-maturating enzyme, or EC 1.8.98.7, cysteine-type anaerobic sulfatase-maturating enzyme.
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CAS REGISTRY NUMBER
COMMENTARY
9016-17-5
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SUBSTRATE
PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate)
(Substrate)
LITERATURE
(Substrate)
(Substrate)
COMMENTARY
(Product)
(Product)
LITERATURE
(Product)
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
4-methylumbelliferyl sulfate + H2O
4-methylumbelliferol + sulfate
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rather poor substrate
-
-
?
4-nitrocatechol sulfate + H2O
4-nitrocatechol + sulfate
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-
-
-
?
additional information
?
-
activity is dependent on residue cysteine80, which undergoes conversion to formylglycine. No substrate: 4-methylumbelliferyl sulfate
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-
?
additional information
?
-
-
activity is dependent on residue cysteine80, which undergoes conversion to formylglycine. No substrate: 4-methylumbelliferyl sulfate
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-
?
additional information
?
-
-
enzyme might be of physiological significance in the deconjugation of the catecholamine sulfate isomers
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-
?
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NATURAL SUBSTRATE
NATURAL PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate)
(Substrate)
LITERATURE
(Substrate)
(Substrate)
COMMENTARY
(Product)
(Product)
LITERATURE
(Product)
(Product)
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
additional information
?
-
-
enzyme might be of physiological significance in the deconjugation of the catecholamine sulfate isomers
-
-
?
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INHIBITOR
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
phosphate
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acts as a strong, competitive ASG inhibitor, inhibition of ASG by phosphate is much stronger than by sulfate
additional information
-
ASG is not inhibited by warfarin even at concentrations close to the solubility limit
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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acidosis
Delayed posthypoxic demyelination. Association with arylsulfatase A deficiency and lactic acidosis on proton MR spectroscopy.
Acidosis, Lactic
Delayed posthypoxic demyelination. Association with arylsulfatase A deficiency and lactic acidosis on proton MR spectroscopy.
Acne Vulgaris
6-[2-(adamantylidene)-hydroxybenzoxazole]-O-sulfamate, a steroid sulfatase inhibitor for the treatment of androgen- and estrogen-dependent diseases.
Acquired Immunodeficiency Syndrome
Enzymic methods for estimation of the somatic cell count in bovine milk. 1. Development of assay techniques and a study of their usefulness in evaluating the somatic cell content of milk.
Acquired Immunodeficiency Syndrome
Metachromatic leukodystrophy: clinical and enzymatic parameters.
Acute Lung Injury
The upregulation of miR-204-3p in LPS-induced acute lung injury aggravated pulmonary endothelial cells apoptosis via targeting sulfatase 2.
Adenocarcinoma
Estrogen sulfotransferase and sulfatase: Roles in the regulation of estrogen activity in human uterine endometrial carcinomas.
Adenocarcinoma
Expression of acidic glycosphingolipids and arylsulphatase A activity in human pathological endometrium.
Adenocarcinoma
Sulfatides and arylsulfatase A activity in major salivary glands of hamster (Mesocricetus auratus) after adenocarcinoma induction in oral cavity.
Adenocarcinoma of Lung
Elevated activities and properties of arylsulfatases A and B and B-variant in human lung tumors.
Adenocarcinoma, Mucinous
[A study on the mechanism of invasion of colorectal mucinous adenocarcinoma]
Adenomyosis
The Important Roles of Steroid Sulfatase and Sulfotransferases in Gynecological Diseases.
Adenomyosis
[Physiopathologic, diagnostic and therapeutic evolution in the management of adenomyosis: review of the literature]
Albinism, Ocular
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
alpha-galactosidase deficiency
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Alzheimer Disease
Arylsulphatase A pseudodeficiency in vascular dementia and Alzheimer's disease.
Alzheimer Disease
Decreased Expression of Sulfatase 2 in the Brains of Alzheimer's Disease Patients: Implications for Regulation of Neuronal Cell Signaling.
Amyotrophic Lateral Sclerosis
Aryl sulfatase in vitamin E deficiency and in amyotrophic lateral sclerosis.
Anaphylaxis
Arylsulfatase B of human lung. Isolation, characterization, and interaction with slow-reacting substance of anaphylaxis.
Anaphylaxis
Inactivation of slow reacting substance of anaphylaxis by human eosinophil arylsulfatase.
Anaphylaxis
Modulation of human eosinophil polymorphonuclear leukocyte migration and function.
Anaphylaxis
Release of arylsulfatase A but not B from rat mast cells by noncytolytic secretory stimuli.
Anaphylaxis
Studies of immediate hypersensitivity in a patient with Acanthocheilonema perstans filarial infection.
Anaphylaxis
The release of four mediators of immediate hypersensitivity from human leukemic basophils.
Anaphylaxis
Variations in chemical mediators of hypersensitivity in the sputum of chronic bronchitics: correlation with peak expiratory flow.
Anemia
High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.
Aortic Aneurysm, Thoracic
Upregulated sulfatase and downregulated MMP-3 in thoracic aortic aneurysm.
arylsulfatase (type i) deficiency
A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.
arylsulfatase (type i) deficiency
A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme.
arylsulfatase (type i) deficiency
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
A major step on the road to understanding a unique posttranslational modification and its role in a genetic disease.
arylsulfatase (type i) deficiency
A newly recognized cause of low urinary estriol in pregnancy: multiple sulfatase deficiency of the fetus.
arylsulfatase (type i) deficiency
A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder.
arylsulfatase (type i) deficiency
A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
A novel protein modification generating an aldehyde group in sulfatases: its role in catalysis and disease.
arylsulfatase (type i) deficiency
A screening method for mucopolysaccharidoses with increased urinary excretion of sulfated N-acetylhexosamines.
arylsulfatase (type i) deficiency
A sensitive procedure for the diagnosis of N-acetyl-galactosamine-6-sulfate sulfatase deficiency in classical Morquio's disease.
arylsulfatase (type i) deficiency
A study of arylsulfatase activity in children born of pregnancies affected with placental sulfatase deficiency.
arylsulfatase (type i) deficiency
A study of pregnancy with low estrogen production due to placental sulfatase deficiency.
arylsulfatase (type i) deficiency
A systematic cross-sectional survey of multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
A variant form of metachromatic leukodystrophy without arylsulfatase deficiency.
arylsulfatase (type i) deficiency
Acid mucopolysaccharide (AMPS) abnormality in multiple sulfatase deficiency: chemical compositions of AMPS in urine and liver.
arylsulfatase (type i) deficiency
Activities of sulfatases for the degradation of acidic glycosaminoglycans in cultured skin fibroblasts from two siblings with multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Advances in the molecular genetics of metachromatic leukodystrophy.
arylsulfatase (type i) deficiency
An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.
arylsulfatase (type i) deficiency
An unusual form of arylsulfatase A deficiency combined with sulfatide-excretion and a normal sulfatide-loading.
arylsulfatase (type i) deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
arylsulfatase (type i) deficiency
Arylsulfatase A deficiency causes seminolipid accumulation and a lysosomal storage disorder in Sertoli cells.
arylsulfatase (type i) deficiency
Arylsulfatase A deficiency in bone marrow fibroblasts of two different forms of metachromatic leukodystrophy.
arylsulfatase (type i) deficiency
Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts.
arylsulfatase (type i) deficiency
Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification.
arylsulfatase (type i) deficiency
Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays.
arylsulfatase (type i) deficiency
Arysulfatase A modulation with pH in multiple sulfatase deficiency disorder fibroblasts.
arylsulfatase (type i) deficiency
Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder.
arylsulfatase (type i) deficiency
Attenuated activities and structural alterations of arylsulfatase A in tissues from subjects with pseudo arylsulfatase A deficiency.
arylsulfatase (type i) deficiency
Autophagy in astrocytes: a novel culprit in lysosomal storage disorders.
arylsulfatase (type i) deficiency
Bone marrow transplantation in the feline model of arylsulfatase B deficiency.
arylsulfatase (type i) deficiency
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.
arylsulfatase (type i) deficiency
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
arylsulfatase (type i) deficiency
Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients.
arylsulfatase (type i) deficiency
Cerebroside-sulphatase and arylsulphatase A deficiency in metachromatic leukodystrophy (ML).
arylsulfatase (type i) deficiency
Cervical cord compression and severe hydrocephalus in a child with Saudi variant of multiple sulfatase deficiency. Report of case.
arylsulfatase (type i) deficiency
Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.
arylsulfatase (type i) deficiency
Combined histochemical and biochemical investigation to the reliability of the demonstration of arylsulphatase activity in cryostat sections.
arylsulfatase (type i) deficiency
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.
arylsulfatase (type i) deficiency
Complementation of multiple sulfatase deficiency in somatic cell hybrids.
arylsulfatase (type i) deficiency
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
arylsulfatase (type i) deficiency
Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.
arylsulfatase (type i) deficiency
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.
arylsulfatase (type i) deficiency
Conversion of cysteine to formylglycine: a protein modification in the endoplasmic reticulum.
arylsulfatase (type i) deficiency
Critical issues for the proper diagnosis of Metachromatic Leukodystrophy.
arylsulfatase (type i) deficiency
Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis.
arylsulfatase (type i) deficiency
De novo calcium/sulfur SAD phasing of the human formylglycine-generating enzyme using in-house data.
arylsulfatase (type i) deficiency
Delayed posthypoxic demyelination. Association with arylsulfatase A deficiency and lactic acidosis on proton MR spectroscopy.
arylsulfatase (type i) deficiency
Detection of the Sanfilippo D syndrome by the use of a radiolabeled monosaccharide sulfate as the substrate for the estimation of N-acetylglucosamine-6-sulfate sulfatase.
arylsulfatase (type i) deficiency
Determination of monosaccharides and disaccharides in mucopolysaccharidoses patients by electrospray ionisation mass spectrometry.
arylsulfatase (type i) deficiency
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
arylsulfatase (type i) deficiency
Development and maturation of invariant NKT cells in the presence of lysosomal engulfment.
arylsulfatase (type i) deficiency
Diagnosis of arylsulfatase A deficiency in intact cultured cells using a fluorescent derivative of cerebroside sulfate.
arylsulfatase (type i) deficiency
Diagnosis of intrauterine fetal growth retardation by DHAS half-life.
arylsulfatase (type i) deficiency
Difficulty in recognizing multiple sulfatase deficiency in an infant.
arylsulfatase (type i) deficiency
Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders.
arylsulfatase (type i) deficiency
Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy.
arylsulfatase (type i) deficiency
DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.
arylsulfatase (type i) deficiency
Early diagnosis of recessive X-linked ichthyosis: elevation of cholesterol sulfate levels in placental sulfatase deficiency before the onset of skin symptoms.
arylsulfatase (type i) deficiency
Early neurosurgical intervention in spondyloepiphyseal dysplasias.
arylsulfatase (type i) deficiency
Efficacy of a Combined Intracerebral and Systemic Gene Delivery Approach for the Treatment of a Severe Lysosomal Storage Disorder.
arylsulfatase (type i) deficiency
Enhanced breakdown of arylsulfatase A in multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Evaluation of a radioimmunoassay for serum unconjugated estriol using commercial reagents.
arylsulfatase (type i) deficiency
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.
arylsulfatase (type i) deficiency
Expert recommendations for the laboratory diagnosis of MPS VI.
arylsulfatase (type i) deficiency
Expression, localization, structural, and functional characterization of pFGE, the paralog of the Calpha-formylglycine-generating enzyme.
arylsulfatase (type i) deficiency
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting.
arylsulfatase (type i) deficiency
Gas chromatographic steroid analysis for diagnosis of placental sulfatase deficiency: a study of nine patients.
arylsulfatase (type i) deficiency
Gas-chromatographic determination of cholesterol sulfate in plasma and erythrocytes, for the diagnosis of recessive X-linked ichthyosis.
arylsulfatase (type i) deficiency
Genetic complementation studies of multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Genotype assignments in a family with the pseudo arylsulfatase a deficiency trait without metachromatic leukodystrophy.
arylsulfatase (type i) deficiency
Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency.
arylsulfatase (type i) deficiency
How Does Nature Cleave Sulfuric Acid Esters? A Novel Posttranslational Modification of Sulfatases.
arylsulfatase (type i) deficiency
Hyaluronidase and sulfatase deficiency in Hurler's syndrome.
arylsulfatase (type i) deficiency
Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Ichthyosis: the skin manifestation of multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Impaired cerebroside sulfate hydrolysis in fibroblasts of sibs with "pseudo" arylsulfatase A deficiency without metachromatic leukodystrophy.
arylsulfatase (type i) deficiency
Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases.
arylsulfatase (type i) deficiency
Incidence of placental sulfatase deficiency on the mode of termination of pregnancy.
arylsulfatase (type i) deficiency
Increased prevalence of pervasive developmental disorders in children with slight arylsulfatase A deficiency.
arylsulfatase (type i) deficiency
Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
arylsulfatase (type i) deficiency
Late infantile form metachromatic leukodystrophy: report of one case.
arylsulfatase (type i) deficiency
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.
arylsulfatase (type i) deficiency
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.
arylsulfatase (type i) deficiency
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
arylsulfatase (type i) deficiency
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.
arylsulfatase (type i) deficiency
Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
arylsulfatase (type i) deficiency
Low maternal serum unconjugated estriol during prenatal screening as an indication of placental steroid sulfatase deficiency and X-linked ichthyosis.
arylsulfatase (type i) deficiency
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy.
arylsulfatase (type i) deficiency
Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B.
arylsulfatase (type i) deficiency
Maternal plasma total oestriol and dehydroepiandrosterone sulfate loading test as indicators of feto-placental function or placental sulfatase deficiency.
arylsulfatase (type i) deficiency
Measurement of recombinant human arylsulfatase A and leukocyte sulfatase activities by analytical isotachophoresis.
arylsulfatase (type i) deficiency
Metachromatic leukodystrophy without arylsulfatase A deficiency.
arylsulfatase (type i) deficiency
Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.
arylsulfatase (type i) deficiency
Metachromatic leukodystrophy. I. Prenatal detection of arylsulphatase A deficiency.
arylsulfatase (type i) deficiency
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.
arylsulfatase (type i) deficiency
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
arylsulfatase (type i) deficiency
Molecular genetics of metachromatic leukodystrophy.
arylsulfatase (type i) deficiency
Mosaicism for sulfoiduronate sulfatase deficiency in carriers of Hunter's syndrome.
arylsulfatase (type i) deficiency
Mucopolysaccharide storage disease in three families of cats with arylsulfatase B deficiency: leukocyte studies and carrier identification.
arylsulfatase (type i) deficiency
Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome.
arylsulfatase (type i) deficiency
Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis.
arylsulfatase (type i) deficiency
Multiple sulfatase deficiencies in cultured skin fibroblasts. Occurrence in patients with a variant form of metachromatic leukodystrophy.
arylsulfatase (type i) deficiency
Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma.
arylsulfatase (type i) deficiency
Multiple sulfatase deficiency (mucosulfatidosis): impaired degradation of labeled sulfated compounds in cultured skin fibroblasts in vivo.
arylsulfatase (type i) deficiency
Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation.
arylsulfatase (type i) deficiency
Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.
arylsulfatase (type i) deficiency
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.
arylsulfatase (type i) deficiency
Multiple sulfatase deficiency with a novel biochemical presentation.
arylsulfatase (type i) deficiency
Multiple sulfatase deficiency with early severe retinal degeneration.
arylsulfatase (type i) deficiency
Multiple sulfatase deficiency with neonatal manifestation.
arylsulfatase (type i) deficiency
Multiple sulfatase deficiency: A case series of four children.
arylsulfatase (type i) deficiency
Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.
arylsulfatase (type i) deficiency
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
arylsulfatase (type i) deficiency
Multiple sulfatase deficiency: bridge between neuronal storage diseases and leukodystrophies.
arylsulfatase (type i) deficiency
Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs.
arylsulfatase (type i) deficiency
Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient.
arylsulfatase (type i) deficiency
Multiple sulfatase deficiency: clinical, neuropathological, ultrastructural and biochemical studies.
arylsulfatase (type i) deficiency
Multiple sulfatase deficiency: degradation of arylsulfatase A and B after endocytosis in fibroblasts.
arylsulfatase (type i) deficiency
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.
arylsulfatase (type i) deficiency
Myoclonic epilepsy of Lafora and arylsulphatase A deficiency in the same patient.
arylsulfatase (type i) deficiency
N-acetylglucosamine-6-sulfate sulfatase deficiency reconsidered.
arylsulfatase (type i) deficiency
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
arylsulfatase (type i) deficiency
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
arylsulfatase (type i) deficiency
New assay for steroid sulfatase (EC 3.1.6.2) and its application for studies of human placental and skin sulfatase.
arylsulfatase (type i) deficiency
Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy.
arylsulfatase (type i) deficiency
Origin of deoxycorticosterone and deoxycorticosterone sulfate in human pregnancy: absence of steroid 21-sulfatase activity in sulfatase-deficient placenta.
arylsulfatase (type i) deficiency
Pathologic findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies.
arylsulfatase (type i) deficiency
Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy.
arylsulfatase (type i) deficiency
Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B.
arylsulfatase (type i) deficiency
Pitfalls in the diagnosis of multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Placental steroid deficiency: association with arylsulfatase A deficiency.
arylsulfatase (type i) deficiency
Placental steroid metabolism in a case of placental sulfatase deficiency.
arylsulfatase (type i) deficiency
Placental sulfatase deficiency and congenital ichthyosis with intrauterine fetal death: case report.
arylsulfatase (type i) deficiency
Placental sulfatase deficiency. Biochemical and clinical aspects.
arylsulfatase (type i) deficiency
Placental sulfatase deficiency: clinical and biochemical study of 16 cases.
arylsulfatase (type i) deficiency
Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis.
arylsulfatase (type i) deficiency
Plasmatic and urinary glycosaminoglycan profile in a patient affected by multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Prediction of X-linked recessive ichthyosis due to placental sulfatase deficiency. A case report.
arylsulfatase (type i) deficiency
Pregnancy outcome for women with very low levels of maternal serum unconjugated estriol on second-trimester screening.
arylsulfatase (type i) deficiency
Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test.
arylsulfatase (type i) deficiency
Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts.
arylsulfatase (type i) deficiency
Presymptomatic diagnosis: metachromatic leukodystrophy or pseudo arylsulphatase A deficiency?
arylsulfatase (type i) deficiency
Problems in the clinical interpretation of arylsulfatase A deficiency.
arylsulfatase (type i) deficiency
Properties of sulfatases in cultured skin fibroblasts of multiple sulfatase deficient patients.
arylsulfatase (type i) deficiency
Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant.
arylsulfatase (type i) deficiency
Pseudo arylsulfatase A deficiency. Biosynthesis of an abnormal arylsulfatase A.
arylsulfatase (type i) deficiency
Pseudo arylsulfatase A deficiency: evidence for a structurally altered enzyme.
arylsulfatase (type i) deficiency
Purification and properties of steroid sulfatase from human placenta.
arylsulfatase (type i) deficiency
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Rapid degradation of steroid sulfatase in multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.
arylsulfatase (type i) deficiency
Restriction of Aerobic Metabolism by Acquired or Innate Arylsulfatase B Deficiency: A New Approach to the Warburg Effect.
arylsulfatase (type i) deficiency
Retinal pigment epithelial degeneration and arylsulfatase A deficiency.
arylsulfatase (type i) deficiency
Retinal pigment epithelial degeneration associated with leukocytic arylsulfatase A deficiency.
arylsulfatase (type i) deficiency
Screening patients referred to a metabolic clinic for lysosomal storage disorders.
arylsulfatase (type i) deficiency
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
arylsulfatase (type i) deficiency
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism.
arylsulfatase (type i) deficiency
Self-eating in skeletal development: implications for lysosomal storage disorders.
arylsulfatase (type i) deficiency
Serum steroid hormone levels in neonates born from the mother with placental sulfatase deficiency.
arylsulfatase (type i) deficiency
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.
arylsulfatase (type i) deficiency
Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder.
arylsulfatase (type i) deficiency
Steroid sulfatase activities in human leukocytes: biochemical and clinical aspects.
arylsulfatase (type i) deficiency
Steroid sulfatase sulfatase deficiency and androgen activation before and after puberty.
arylsulfatase (type i) deficiency
Structural distortions due to missense mutations in human formylglycine-generating enzyme leading to multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Successful transduction of oligodendrocytes and restoration of arylsulfatase A deficiency in metachromatic leukodystrophy fibroblasts using an adenovirus vector.
arylsulfatase (type i) deficiency
Sulfatase deficiency in the human placenta: clinical findings.
arylsulfatase (type i) deficiency
Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum.
arylsulfatase (type i) deficiency
Sulfatase modifying factor 1-mediated fibroblast growth factor signaling primes hematopoietic multilineage development.
arylsulfatase (type i) deficiency
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.
arylsulfatase (type i) deficiency
Sulfatide excreting heterozygous carrier of juvenile metachromatic leukodystrophy or asymptomatic patient of adult metachromatic leukodystrophy.
arylsulfatase (type i) deficiency
SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies.
arylsulfatase (type i) deficiency
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Synthesis and characterization of NBD-PS: a fluorescent analog of cerebroside arylsulfatase A deficiency disorders.
arylsulfatase (type i) deficiency
Synthesis and maturation of cross-reactive glycoprotein in fibroblasts deficient in arylsulfatase A activity.
arylsulfatase (type i) deficiency
Synthesis and stability of arylsulfatase A and B in fibroblasts from multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Synthesis and stability of steroid sulfatase in fibroblasts from multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?
arylsulfatase (type i) deficiency
The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes.
arylsulfatase (type i) deficiency
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.
arylsulfatase (type i) deficiency
The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation.
arylsulfatase (type i) deficiency
Thiosulfate-mediated increase of arylsulfatase activities in multiple sulfatase deficiency disorder fibroblasts.
arylsulfatase (type i) deficiency
Understanding the Metabolic Consequences of Human Arylsulfatase A Deficiency through a Computational Systems Biology Study.
arylsulfatase (type i) deficiency
Undetectable maternal serum unconjugated estriol levels in the second trimester: risk of perinatal complications associated with placental sulfatase deficiency.
arylsulfatase (type i) deficiency
Unusual clinical presentation in two cases of multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Unusual early manifestation of multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Urinary acid mucopolysaccharides in multiple sulfatase deficiency (mucosulfatidosis).
arylsulfatase (type i) deficiency
Use of a neuron-glia genome-scale metabolic reconstruction to model the metabolic consequences of the Arylsulphatase a deficiency through a systems biology approach.
arylsulfatase (type i) deficiency
Various sulfatase activities in leukocytes and cultured skin fibroblasts from heterozygotes for the multiple sulfatase deficiency (mukosulfatidosis).
arylsulfatase (type i) deficiency
View from inside: When multiple sulfatase deficiency changes everything about how you live and becomes your life.
arylsulfatase (type i) deficiency
X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations.
arylsulfatase (type i) deficiency
X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report.
arylsulfatase (type i) deficiency
[A case of multiple sulfatase deficiency with fiber type disproportion]
arylsulfatase (type i) deficiency
[A study of 16 alpha OH-DHA and 16 alpha OH-pregnenolone in feto-placental unit (author's transl)]
arylsulfatase (type i) deficiency
[Biochemical and clinical observations in a patient with placental sulfatase deficiency]
arylsulfatase (type i) deficiency
[Cases of multiple sulfatase deficiency in sisters--biopsy findings of the sural nerve]
arylsulfatase (type i) deficiency
[Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China].
arylsulfatase (type i) deficiency
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
arylsulfatase (type i) deficiency
[Deficiency in placental sulfatase. Clinical and biochemical study of 3 cases]
arylsulfatase (type i) deficiency
[Demonstration of arylsulfatase A deficiency in metachromatic leukodystrophy and prenatal diagnosis of the disease]
arylsulfatase (type i) deficiency
[Differentiation between arylsulfatase A deficiency and pseudo-deficiency]
arylsulfatase (type i) deficiency
[Endocrino-pharmacological study of reproduction: Role and biosynthesis of steroid hormones in the feto-placental unit]
arylsulfatase (type i) deficiency
[Endocrinological and histochemical studies of placental sulfatase deficiency]
arylsulfatase (type i) deficiency
[Metachromatic leukodystrophy and multiple sulfatase deficiency]
arylsulfatase (type i) deficiency
[Microsomal sulfatase deficiency in X chromosome-linked ichthyosis]
arylsulfatase (type i) deficiency
[Paradoxal estrogen deficiency caused by placental sulfatase deficiency in a normal pregnancy]
arylsulfatase (type i) deficiency
[Pathophysiology of sulfatide metabolism in metachromatic leukodystrophy]
arylsulfatase (type i) deficiency
[Placental sulfatase deficiency and sex-linked recessive ichthyosis. Two cases found in two sisters (author's transl)]
arylsulfatase (type i) deficiency
[Placental sulfatase deficiency: an inborn error of metabolism]
arylsulfatase (type i) deficiency
[Serumprolactin and lactation in a case of placental sulfatase deficiency]
arylsulfatase (type i) deficiency
[Should we still explore placental sulfatase deficiencies? Reflections apropos of a case report]
arylsulfatase (type i) deficiency
[The early diagnosis of Maroteaux-Lamy syndrome with confirmation of arylsulphatase deficiency]
aspartate-ammonia ligase deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Aspartylglucosaminuria
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
Asthma
Eosinophilic leucocytes and arylsulfatase activity in bronchoalveolar lavage fluid of patients with bronchial asthma.
Ataxia
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).
Bacterial Infections
[Serum levels of amino acid in patients with purple urine bag syndrome]
beta-galactosidase deficiency
Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB.
beta-glucosidase deficiency
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Biliary Tract Diseases
[Activity of arylsulfatase A and B in liver tissue and systemic fluids in selected liver and biliary tract diseases]
Biotinidase Deficiency
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Bone Diseases
Neonatal Gene Therapy With a Gamma Retroviral Vector in Mucopolysaccharidosis VI Cats.
Bone Resorption
Ultrahistochemical analysis of glycosaminoglycan hydrolysis in the rat periodontal ligament. II. Aryl sulfatase and bone resorption.
Brain Injuries
Decline in arylsulfatase B and Increase in chondroitin 4-sulfotransferase combine to increase chondroitin 4-sulfate in traumatic brain injury.
Brain Injuries, Traumatic
Decline in arylsulfatase B and Increase in chondroitin 4-sulfotransferase combine to increase chondroitin 4-sulfate in traumatic brain injury.
Breast Neoplasms
17beta-hydroxysteroid dehydrogenase type 1 stimulates breast cancer by dihydrotestosterone inactivation in addition to estradiol production.
Breast Neoplasms
A New Therapeutic Strategy against Hormone-Dependent Breast Cancer: The Preclinical Development of a Dual Aromatase and Sulfatase Inhibitor.
Breast Neoplasms
Action of danazol on the conversion of estrone sulfate to estradiol and on the sulfatase activity in the MCF-7, T-47D and MDA-MB-231 human mammary cancer cells.
Breast Neoplasms
Aromatase inhibitors for treatment of breast cancer: current concepts and new perspectives.
Breast Neoplasms
Binary and ternary crystal structure analyses of a novel inhibitor with 17beta-HSD type 1: a lead compound for breast cancer therapy.
Breast Neoplasms
Biological responses of progestogen metabolites in normal and cancerous human breast.
Breast Neoplasms
Comparison of estrogen concentrations, estrone sulfatase and aromatase activities in normal, and in cancerous, human breast tissues.
Breast Neoplasms
Concentrations of estrone, estradiol, and estrone sulfate and evaluation of sulfatase and aromatase activities in pre- and postmenopausal breast cancer patients.
Breast Neoplasms
Control of sulfatase activity by nomegestrol acetate in normal and cancerous human breast tissues.
Breast Neoplasms
Control of sulfatase and sulfotransferase activities by medrogestone in the hormone-dependent MCF-7 and T-47D human breast cancer cell lines.
Breast Neoplasms
Cytogenetic analysis of epithelial ovarian cancer's stem cells: an overview on new diagnostic and therapeutic perspectives.
Breast Neoplasms
Dehydroepiandrosterone concentration in breast cancer tissue is related to its plasma gradient across the mammary gland.
Breast Neoplasms
Design and synthesis of carbon-11-labeled dual aromatase-steroid sulfatase inhibitors as new potential PET agents for imaging of aromatase and steroid sulfatase expression in breast cancer.
Breast Neoplasms
Development of (p-O-sulfamoyl)-N-alkanoyl-phenylalkyl amines as non-steroidal estrone sulfatase inhibitors.
Breast Neoplasms
Direct evidence for ArO-S bond cleavage upon inactivation of Pseudomonas aeruginosa arylsulfatase by aryl sulfamates.
Breast Neoplasms
Dydrogesterone (Duphaston) and its 20-dihydro-derivative as selective estrogen enzyme modulators in human breast cancer cell lines. Effect on sulfatase and on 17beta-hydroxysteroid dehydrogenase (17beta-HSD) activity.
Breast Neoplasms
Effect of Decapeptyl (a GnRH analogue) and of transforming growth factor-alpha (TGF-alpha), in the presence of heparin, on the sulfatase activity of human breast cancer cells.
Breast Neoplasms
Effect of nomegestrol acetate on estrogen biosynthesis and transformation in MCF-7 and T47-D breast cancer cells.
Breast Neoplasms
Effects of Tibolone on Sulfatase Pathway of Estrogens Metabolism and on Growth of MCF-7 Human Breast Tumors Implanted in Ovariectomized Nude Mice.
Breast Neoplasms
Enzymatic control of estrogen production in human breast cancer: relative significance of aromatase versus sulfatase pathways.
Breast Neoplasms
Estradiol inhibits the estrone sulfatase activity in normal and cancerous human breast tissues.
Breast Neoplasms
Estradiol-17beta sulfotransferase activity in canine osteosarcoma D17 cells.
Breast Neoplasms
Estrogen receptor agonists/antagonists in breast cancer therapy: A critical review.
Breast Neoplasms
Estrogen sulfatase and estrogen sulfotransferase in human primary mammary carcinoma.
Breast Neoplasms
Estrone sulfatase versus estrone sulfotransferase in human breast cancer: potential clinical applications.
Breast Neoplasms
Estrone sulfate and sulfatase activity in human breast cancer and endometrial cancer.
Breast Neoplasms
Estrone sulfate-sulfatase and 17 beta-hydroxysteroid dehydrogenase activities: a hypothesis for their role in the evolution of human breast cancer from hormone-dependence to hormone-independence.
Breast Neoplasms
Evaluation of Arylsulfatase D (ARSD) and long noncoding RNA ARSD-AS1 gene expression in breast cancer patients and their association with oncogenic transcription factors.
Breast Neoplasms
Evaluation of leukocyte arylsulphatase a, serum interleukin-6 and urinary heparan sulphate following tamoxifen therapy in breast cancer.
Breast Neoplasms
Expression of sulfotransferases and sulfatases in human breast cancer: Impact on resveratrol metabolism.
Breast Neoplasms
High expression of steroid sulfatase mRNA predicts poor prognosis in patients with estrogen receptor-positive breast cancer.
Breast Neoplasms
Human Sulfatase 2 inhibits in vivo tumor growth of MDA-MB-231 human breast cancer xenografts.
Breast Neoplasms
In situ estrogen production via the estrone sulfatase pathway in breast tumors: relative importance versus the aromatase pathway.
Breast Neoplasms
In situ levels of oestrogen producing enzymes and its prognostic significance in postmenopausal breast cancer patients.
Breast Neoplasms
In vivo efficacy of STX213, a second-generation steroid sulfatase inhibitor, for hormone-dependent breast cancer therapy.
Breast Neoplasms
In vivo Inhibition of the Estrogen Sulfatase Enzyme and Growth of DMBA-Induced Mammary Tumors by Melatonin.
Breast Neoplasms
Increased estrogen sulfatase (STS) and 17beta-hydroxysteroid dehydrogenase type 1(17beta-HSD1) following neoadjuvant aromatase inhibitor therapy in breast cancer patients.
Breast Neoplasms
Inhibition of steryl sulfatase activity in LNCaP human prostate cancer cells.
Breast Neoplasms
Involvement of up-regulation of 17beta-hydroxysteroid dehydrogenase type 1 in maintenance of intratumoral high estradiol levels in postmenopausal breast cancers.
Breast Neoplasms
Lead optimization of 4-(thio)-chromenone 6-O-sulfamate analogs using QSAR, molecular docking and DFT - a combined approach as steroidal sulfatase inhibitors.
Breast Neoplasms
Matrix detachment and proteasomal inhibitors diminish Sulf-2 expression in breast cancer cell lines and mouse xenografts.
Breast Neoplasms
Metabolism and biologic response of estrogen sulfates in hormone-dependent and hormone-independent mammary cancer cell lines. Effect of antiestrogens.
Breast Neoplasms
New developments in intracrinology of human breast cancer: estrogen sulfatase and sulfotransferase.
Breast Neoplasms
Nomegestrol acetate is an anti-aromatase agent in human MCF-7aro breast cancer cells.
Breast Neoplasms
Norelgestromin as selective estrogen enzyme modulator in human breast cancer cell lines. Effect on sulfatase activity in comparison to medroxyprogesterone acetate.
Breast Neoplasms
Paradoxical effect of estradiol: it can block its own bioformation in human breast cancer cells.
Breast Neoplasms
Phase I Study of STX 64 (667 Coumate) in Breast Cancer Patients: The First Study of a Steroid Sulfatase Inhibitor.
Breast Neoplasms
Progestagen component in combined hormone replacement therapy in postmenopausal women and breast cancer risk: a debated clinical issue.
Breast Neoplasms
Quantitative analysis of aromatase, sulfatase and 17beta-HSD(1) mRNA expression in soft tissue metastases of breast cancer.
Breast Neoplasms
Recent data on estrogen sulfatases and sulfotransferases activities in human breast cancer.
Breast Neoplasms
Recent insight on the control of enzymes involved in estrogen formation and transformation in human breast cancer.
Breast Neoplasms
Reductive 17beta-hydroxysteroid dehydrogenases in the sulfatase pathway: critical in the cell proliferation of breast cancer.
Breast Neoplasms
Review of estrone sulfatase and its inhibitors--an important new target against hormone dependent breast cancer.
Breast Neoplasms
Role, control and expression of estrone sulfatase and 17 beta-hydroxysteroid dehydrogenase activities in human breast cancer.
Breast Neoplasms
Selective estrogen enzyme modulator actions of melatonin in human breast cancer cells.
Breast Neoplasms
Single-nucleotide polymorphism in microRNA-binding site of SULF1 target gene as a protective factor against the susceptibility to breast cancer: a case-control study.
Breast Neoplasms
Steroid sulfatase inhibition success and limitation in breast cancer clinical assays: An underlying mechanism.
Breast Neoplasms
Sulfatase 2 facilitates lymphangiogenesis in breast cancer by regulating VEGF-D.
Breast Neoplasms
Sulfatase 2 promotes breast cancer progression through regulating some tumor-related factors.
Breast Neoplasms
Sulfatase inhibitors for recidivist breast cancer treatment: A chemical review.
Breast Neoplasms
The hydrolysis of estrone sulfate and dehydroepiandrosterone sulfate by MCF-7 human breast cancer cells.
Breast Neoplasms
The metabolism and analysis of isoflavones and other dietary polyphenols in foods and biological systems.
Breast Neoplasms
[Arylsulfatase A--physico-chemical properties and the use of enzyme radioimmunoassay in medical diagnosis]
Breast Neoplasms
[Changes in arylsulphatase activity in blood serum in patients with breast cancer before and after treatment]
Bronchitis, Chronic
Immunoglobulins, complement and arylsulphatase in sputum from chronic bronchitis and other pulmonary diseases.
Carcinogenesis
Expression of the extracellular sulfatase SULF2 is associated with squamous cell carcinoma of the head and neck.
Carcinogenesis
Heparin-degrading sulfatases in hepatocellular carcinoma: roles in pathogenesis and therapy targets.
Carcinogenesis
Sulfatase 1 mediates the attenuation of Ang II-induced hypertensive effects by CCL5 in vascular smooth muscle cells from spontaneously hypertensive rats.
Carcinogenesis
Sulfatase 2 up-regulates glypican 3, promotes fibroblast growth factor signaling, and decreases survival in hepatocellular carcinoma.
Carcinogenesis
The extracellular sulfatase SULF2 promotes liver tumorigenesis by stimulating assembly of a promoter-looping GLI1-STAT3 transcriptional complex.
Carcinogenesis
The Tumor Suppressor Function of Human Sulfatase 1 (SULF1) in Carcinogenesis.
Carcinoma
Arylsulfatases of human-lung tumors transplanted into athymic mice. Cancer-associated modification of arylsulfatase B variant.
Carcinoma
Association of elevated sulfatides and sulfotransferase activities with human renal cell carcinoma.
Carcinoma
Elevated activities and properties of arylsulfatases A and B and B-variant in human lung tumors.
Carcinoma
Estrogen sulfatase and estrogen sulfotransferase in human primary mammary carcinoma.
Carcinoma
Expression of the Extracellular Sulfatase SULF2 Affects Survival of Head and Neck Squamous Cell Carcinoma Patients.
Carcinoma
Expression of the extracellular sulfatase SULF2 is associated with squamous cell carcinoma of the head and neck.
Carcinoma
Gastrointestinal Carcinoma with Plasmacytoid Morphology: Positivity for c-MET, Arylsulfatase, and Markers of Epithelial-Mesenchymal Transition, as Indicators of Aggressivity.
Carcinoma
Phosphorylation and sulfation of arylsulfatase A accompanies biosynthesis of the enzyme in normal and carcinoma cell lines.
Carcinoma
Steroid sulfatase and estrogen sulfotransferase in colon carcinoma: regulators of intratumoral estrogen concentrations and potent prognostic factors.
Carcinoma
The histochemical demonstration of arylsulphatase and acid hydrolases in carcinoma of the colon and the breast.
Carcinoma, Hepatocellular
Activation of the transforming growth factor-?/SMAD transcriptional pathway underlies a novel tumor-promoting role of sulfatase 1 in hepatocellular carcinoma.
Carcinoma, Hepatocellular
Additive effect of apicidin and doxorubicin in sulfatase 1 expressing hepatocellular carcinoma in vitro and in vivo.
Carcinoma, Hepatocellular
Evaluating Tumor-Associated Activity of Extracellular Sulfatase by Analyzing Naturally Occurring Substrate in Tumor Microenvironment of Hepatocellular Carcinoma.
Carcinoma, Hepatocellular
Hepatic drug-metabolizing enzymes in primary and secondary tumors of human liver.
Carcinoma, Hepatocellular
Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C.
Carcinoma, Hepatocellular
Sulfatase 1 (hSulf-1) reverses basic fibroblast growth factor-stimulated signaling and inhibits growth of hepatocellular carcinoma in animal model.
Carcinoma, Hepatocellular
Sulfatase 1 and sulfatase 2 in hepatocellular carcinoma: associated signaling pathways, tumor phenotypes, and survival.
Carcinoma, Hepatocellular
Sulfatase 2 protects hepatocellular carcinoma cells against apoptosis induced by the PI3K inhibitor LY294002 and ERK and JNK kinase inhibitors.
Carcinoma, Hepatocellular
Sulfatase 2 up-regulates glypican 3, promotes fibroblast growth factor signaling, and decreases survival in hepatocellular carcinoma.
Carcinoma, Hepatocellular
Sulfatase 2-Induced Cancer-Associated Fibroblasts Promote Hepatocellular Carcinoma Progression via Inhibition of Apoptosis and Induction of Epithelial-to-Mesenchymal Transition.
Carcinoma, Hepatocellular
The extracellular sulfatase SULF2 promotes liver tumorigenesis by stimulating assembly of a promoter-looping GLI1-STAT3 transcriptional complex.
Carcinoma, Hepatocellular
The glucagon-insulin antagonism in the regulation of cytosolic protein binding to the 3' end of phosphoenolpyruvate carboxykinase mRNA in cultured rat hepatocytes. Possible involvement in the stabilization of the mRNA.
Carcinoma, Hepatocellular
The human sulfatase 2 inhibitor 2,4-disulfonylphenyl-tert-butylnitrone (OKN-007) has an antitumor effect in hepatocellular carcinoma mediated via suppression of TGFB1/SMAD2 and Hedgehog/GLI1 signaling.
Carcinoma, Hepatocellular
The oncogenic effect of sulfatase 2 in human hepatocellular carcinoma is mediated in part by glypican 3-dependent Wnt activation.
Carcinoma, Hepatocellular
Transcriptional Induction of Periostin by a Sulfatase 2-TGF?1-SMAD Signaling Axis Mediates Tumor Angiogenesis in Hepatocellular Carcinoma.
Carcinoma, Ovarian Epithelial
Rs3802278 in 3'-UTR of SULF1 associated with platinum resistance and survival in Chinese epithelial ovarian cancer patients.
Carcinoma, Squamous Cell
Elevated activities and properties of arylsulfatases A and B and B-variant in human lung tumors.
Carcinoma, Squamous Cell
Expression of the Extracellular Sulfatase SULF2 Affects Survival of Head and Neck Squamous Cell Carcinoma Patients.
Carcinoma, Squamous Cell
Expression of the extracellular sulfatase SULF2 is associated with squamous cell carcinoma of the head and neck.
Carotid Artery Diseases
Upregulation of arylsulfatase B in carotid atherosclerosis is associated with symptoms of cerebral embolization.
Cataract
Acid phosphatase II. Cytochemical localization in lenses of normal and galactose-fed rats.
Cataract
Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy.
Cataract
Ultrastructural cytochemistry: effect of Sorbinil on arylsulfatases in cataractous lenses.
Cerebral Palsy
Kinetics and activity of arylsulfatase A in leukocytes derived from patients with cerebral palsy.
cerebroside-sulfatase deficiency
Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency.
Cholangiocarcinoma
Sulfatase 2 (SULF2) Monoclonal Antibody 5D5 Suppresses Human Cholangiocarcinoma Xenograft Growth Through Regulation of a SULF2-Platelet-Derived Growth Factor Receptor Beta-Yes-Associated Protein Signaling Axis.
Chondrodysplasia Punctata
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.
Chondrodysplasia Punctata
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.
Chondrodysplasia Punctata
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.
Chondrodysplasia Punctata
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.
Chondrodysplasia Punctata
Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation.
Chondrodysplasia Punctata
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.
Chondrodysplasia Punctata
Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata.
Chondrodysplasia Punctata
Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
Chondrodysplasia Punctata
Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing symmetrical chondrodysplasia punctata.
Chondrodysplasia Punctata
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Chondrodysplasia Punctata
Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.
Chondrodysplasia Punctata
Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctata.
Chondrodysplasia Punctata
X-linked brachytelephalangic chondrodysplasia punctata: A simple trait that is not so simple.
Chondrodysplasia Punctata
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.
Chorea
A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings.
Chronic Periodontitis
Enzyme activity in crevicular fluid for detection and prediction of clinical attachment loss in patients with chronic adult periodontitis. Six month results.
Chronic Periodontitis
Within-mouth correlations for indicators of the host response in gingival crevicular fluid.
Colonic Neoplasms
Serum sulfatase activity is more elevated in colonic adenomas than cancers.
Colorectal Neoplasms
Differentiating malignant colorectal tumor patients from benign colorectal tumor patients by assaying morning urinary arylsulfatase activity.
Colorectal Neoplasms
Hepatic drug-metabolizing enzymes in primary and secondary tumors of human liver.
Colorectal Neoplasms
Serum sulfatase activity is more elevated in colonic adenomas than cancers.
Congenital Disorders of Glycosylation
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.
Cystic Fibrosis
Dextran Microparticulate Inhalable Dry Powder for the Treatment of Cystic Fibrosis and Mucopolysaccharidosis.
Cystic Fibrosis
Effect of CFTR modifiers on arylsulfatase B activity in cystic fibrosis and normal human bronchial epithelial cells.
Cystic Fibrosis
In vivo specific reduction of arylsulfatase B enzymatic activity in children with cystic fibrosis.
Cystic Fibrosis
Increased arylsulfatase B activity in cystic fibrosis cells following correction of CFTR.
Cystic Fibrosis
Increased GPNMB, phospho-ERK1/2, and MMP-9 in cystic fibrosis in association with reduced arylsulfatase B.
Cystic Fibrosis
Reduced Arylsulfatase B activity in leukocytes from cystic fibrosis patients.
Cystic Fibrosis
Transcriptomic analysis of the sulfate starvation response of Pseudomonas aeruginosa.
Cystinosis
A study of the low beta-galactosidase activity in cystinotic fibroblasts: effects of cysteamine.
Cystinosis
Abnormal arylsulphatase activities of fibroblasts cultured from patients with mucopolysaccharidosis and cystinosis.
Cystitis
Arylsulfatase A activities in urine and tissues taken from bladder cancer patients.
Cystitis
Arylsulfatase A activity of urine in patients with various genitourinary tract disorders.
Deficiency Diseases
Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?
Dementia
Croatian population data for arylsulfatase a pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome.
Dementia
Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene.
Dementia, Vascular
Arylsulphatase A pseudodeficiency in vascular dementia and Alzheimer's disease.
Demyelinating Diseases
Brain Penetrable Inhibitors of Ceramide Galactosyltransferase for the Treatment of Lysosomal Storage Disorders.
Demyelinating Diseases
Clinical course of adult metachromatic leukodystrophy presenting as schizophrenia. A report of two living cases in siblings.
Demyelinating Diseases
Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.
Demyelinating Diseases
Comparative efficacy and safety of multiple routes of direct CNS administration of adeno-associated virus gene transfer vector serotype rh.10 expressing the human arylsulfatase A cDNA to nonhuman primates.
Demyelinating Diseases
Delayed postanoxic demyelination and arylsulfatase-A pseudodeficiency.
Demyelinating Diseases
Delayed posthypoxic demyelination. Association with arylsulfatase A deficiency and lactic acidosis on proton MR spectroscopy.
Demyelinating Diseases
Deletion of fatty acid amide hydrolase reduces lyso-sulfatide levels but exacerbates metachromatic leukodystrophy in mice.
Demyelinating Diseases
Hematopoietic SCT: a useful treatment for late metachromatic leukodystrophy.
Demyelinating Diseases
Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy.
Demyelinating Diseases
Intracerebral gene therapy using AAVrh.10-hARSA recombinant vector to treat patients with early-onset forms of metachromatic leukodystrophy: preclinical feasibility and safety assessments in non-human primates.
Demyelinating Diseases
Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy.
Demyelinating Diseases
Lysosomal sulfatide storage in the brain of arylsulfatase A-deficient mice: cellular alterations and topographic distribution.
Demyelinating Diseases
Mammalian arylsulfatase A functions as a novel component of the extracellular matrix.
Demyelinating Diseases
Metachromatic leukodystrophy and nonverbal learning disability: neuropsychological and neuroradiological findings in heterozygous carriers.
Demyelinating Diseases
Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction.
Demyelinating Diseases
Metachromatic leukodystrophy: a comparative study of the ultrastructural findings in the peripheral nervous system of three cases, one of the late infantile, one of the juvenile and one of the adult form of the disease.
Demyelinating Diseases
Metachromatic leukodystrophy: Disease spectrum and approaches for treatment.
Demyelinating Diseases
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
Demyelinating Diseases
Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients.
Demyelinating Diseases
Pathology of the Gallbladder in a Child with Metachromatic Leukodystrophy.
Demyelinating Diseases
Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology.
Demyelinating Diseases
Retrovirally expressed human arylsulfatase A corrects the metabolic defect of arylsulfatase A-deficient mouse cells.
Demyelinating Diseases
Saposin B-Deficient Metachromatic Leukodystrophy Mimicking Acute Flaccid Paralysis.
Demyelinating Diseases
Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter.
Demyelinating Diseases
Sulfatide storage in visceral organs of arylsulfatase A-deficient mice.
Demyelinating Diseases
Synthesis and structure-activity relationships of cerebroside analogues as substrates of cerebroside sulphotransferase and discovery of a competitive inhibitor.
Demyelinating Diseases
Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy.
Demyelinating Diseases
[Analysis of ARSA gene variant in an infant with late infantile metachromatic leukodystrophy].
Demyelinating Diseases
[Familial metachromatic leukodystrophy as a cause of psychotic manifestations in young adults]
Dental Caries
Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma.
Diabetes Mellitus, Type 2
Recent insights into factors affecting remnant lipoprotein uptake.
Diabetes Mellitus, Type 2
Type 2 diabetes in mice induces hepatic overexpression of sulfatase 2, a novel factor that suppresses uptake of remnant lipoproteins.
Diffuse Cerebral Sclerosis of Schilder
METACHROMATIC FORM OF DIFFUSE CEREBRAL SCLEROSIS. IV. LOW SULFATASE ACTIVITY IN THE URINE OF NINE LIVING PATIENTS WITH METACHROMATIC LEUKODYSTROPHY (MLD).
Diffuse Cerebral Sclerosis of Schilder
Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity: a controlled study of brain, liver and kidney in four patients with metachromatic leukodystrophy (MLD).
Diffuse Cerebral Sclerosis of Schilder
Metachromatic form of diffuse cerebral sclerosis. VI. A rapid test for the sulfatase A deficiency in metachromatic leukodystrophy (MLD) urine.
Down Syndrome
Croatian population data for arylsulfatase a pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome.
Dyslipidemias
Knockout of sulfatase 2 is associated with decreased steatohepatitis and fibrosis in a mouse model of nonalcoholic fatty liver disease.
Dysostoses
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia.
Dystonia
Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia.
Dystonia
Genome-wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus?
Dystonic Disorders
Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia.
Elephantiasis, Filarial
Sequential alterations in the human eosinophil content of arylsulfatase B during therapy of Bancroftian filariasis.
Encephalitis
Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations.
Encephalomyelitis, Autoimmune, Experimental
Arylsulphatase A (EC 3.1.6.1) activity in rat central nervous system during experimental allergic encephalomyelitis.
Endometrial Neoplasms
Aberrant pre-receptor regulation of estrogen and progesterone action in endometrial cancer.
Endometrial Neoplasms
Estrogen productivity of endometrium and endometrial cancer tissue; influence of aromatase on proliferation of endometrial cancer cells.
Endometrial Neoplasms
Estrogen sulfotransferase and sulfatase: Roles in the regulation of estrogen activity in human uterine endometrial carcinomas.
Endometrial Neoplasms
Estrone sulfatase activity in normal and neoplastic endometrial tissues of human uterus.
Endometrial Neoplasms
Estrone sulfate and sulfatase activity in human breast cancer and endometrial cancer.
Endometrial Neoplasms
Expression analysis of estrogen-metabolizing enzymes in human endometrial cancer.
Endometrial Neoplasms
The Important Roles of Steroid Sulfatase and Sulfotransferases in Gynecological Diseases.
Endometrial Neoplasms
The Significance of the Sulfatase Pathway for Local Estrogen Formation in Endometrial Cancer.
Endometriosis
Expression analysis of the genes involved in estradiol and progesterone action in human ovarian endometriosis.
Endometriosis
Gonadotropin-releasing hormone agonist inhibits estrone sulfatase expression of cystic endometriosis in the ovary.
Endometriosis
Recent advances on the action of estrogens and progestogens in normal and pathological human endometrium.
Endometriosis
The Important Roles of Steroid Sulfatase and Sulfotransferases in Gynecological Diseases.
Eosinophilia
Variations in chemical mediators of hypersensitivity in the sputum of chronic bronchitics: correlation with peak expiratory flow.
Epilepsies, Myoclonic
Myoclonic epilepsy of Lafora and arylsulphatase A deficiency in the same patient.
Essential Tremor
Arylsulphatase A (ASA) activity in parkinsonism and symptomatic essential tremor.
Eye Diseases
Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19.
Fabry Disease
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
Fanconi Anemia
Formation and repair of DNA interstrand cross-links in relation to cytotoxicity and unscheduled DNA synthesis induced in control and mutant human cells treated with cis-diamminedichloroplatinum(II).
Fanconi Syndrome
Urinary lysosomal enzyme excretion in pregnant women with hypertensive disorders.
Fatty Liver
Knockout of sulfatase 2 is associated with decreased steatohepatitis and fibrosis in a mouse model of nonalcoholic fatty liver disease.
Fetal Death
Evaluation of a radioimmunoassay for serum unconjugated estriol using commercial reagents.
Fetal Death
Placental sulfatase deficiency and congenital ichthyosis with intrauterine fetal death: case report.
Fetal Diseases
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.
Fetal Diseases
Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region.
Fibroadenoma
Concentrations of estrone, estradiol and their sulfates, and evaluation of sulfatase and aromatase activities in patients with breast fibroadenoma.
Fibrosarcoma
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.
Fucosidosis
Determination of lysosomal enzymes in saliva. Confirmation of the diagnosis of metachromatic leukodystrophy and fucosidosis by enzyme analysis.
Galactosemias
Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant.
Galactosemias
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Galactosemias
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism.
Gangliosidoses, GM2
Brain hexosaminidase and arylsulfatase isoenzymes in normal and vitamin E-deficient rats: an hypothesis for isoenzyme patterns in GM2 gangliosidoses and MLD.
Gangliosidosis, GM1
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
Gangliosidosis, GM1
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
Gangliosidosis, GM1
Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB.
Gastrointestinal Neoplasms
Arylsulfatase A in serum from patients with cancer of various organs.
Gastrointestinal Neoplasms
[Arylsulfatase A--physico-chemical properties and the use of enzyme radioimmunoassay in medical diagnosis]
Gaucher Disease
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
Gaucher Disease
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.
Gaucher Disease
Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant.
Gaucher Disease
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Gaucher Disease
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism.
Genetic Diseases, Inborn
Animal model studies of allelism: characterization of arylsulfatase B mutations in homoallelic and heteroallelic (genetic compound) homozygotes with feline mucopolysaccharidosis VI.
Genetic Diseases, Inborn
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI.
Genetic Diseases, Inborn
Dextran Microparticulate Inhalable Dry Powder for the Treatment of Cystic Fibrosis and Mucopolysaccharidosis.
Genetic Diseases, Inborn
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Genetic Diseases, Inborn
Synthesis and structure-activity relationships of cerebroside analogues as substrates of cerebroside sulphotransferase and discovery of a competitive inhibitor.
Genetic Diseases, Inborn
Synthetic sulfogalactosylceramide (sulfatide) and its use for the mass spectrometric quantitative urinary determination in metachromatic leukodystrophies.
Gingivitis
Development of a biochemical profile for gingival crevicular fluid. Methodological considerations and evaluation of collagen-degrading and ground substance-degrading enzyme activity during experimental gingivitis.
Gingivitis
Development of a Biochemical Profile for Gingival Crevicular Fluid: Methodological Considerations and Evaluation of Collagen-Degrading and Ground Substance-Degrading Enzyme Activity during Experimental Gingivitis.
Gingivitis
Lactate dehydrogenase, beta-glucuronidase and arylsulfatase activity in gingival crevicular fluid associated with experimental gingivitis in man.
Glioblastoma
New Protocol-Guided Exploitation of a Lysosomal Sulfatase Inhibitor to Suppress Cell Growth in Glioblastoma Multiforme.
Glioma
Heparan sulfate sulfatase SULF2 regulates PDGFR? signaling and growth in human and mouse malignant glioma.
Glioma
Inhibitory effects of melatonin on sulfatase and 17beta-hydroxysteroid dehydrogenase activity and expression in glioma cells.
Glomerulonephritis, Membranous
Allo-immune membranous nephropathy and recombinant aryl sulfatase replacement therapy: a need for tolerance induction therapy.
Glycogen Storage Disease
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Glycogen Storage Disease Type II
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Granuloma
Biochemical characterization of arylsulfatases detected in granulomatous inflammation.
Gynecomastia
On the inhibitory action of 29 drugs having side effect gynecomastia on estrogen production.
Heart Failure
Mammalian arylsulfatase A functions as a novel component of the extracellular matrix.
Hemochromatosis
[A study of lysosomal enzyme activities in serum and leukocytes in chronic hepatic disease (author's transl)]
Hepatolenticular Degeneration
Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency.
Hepatolenticular Degeneration
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?
Heredodegenerative Disorders, Nervous System
Somatic cell hybridization studies on the genetic regulation and allelic mutations in metachromatic leukodystrophy.
Herpes Simplex
Herpes simplex virus and human cytomegalovirus replication in WI-38 cells. III. Cytochemical localization of lysosomal enzymes in infected cells.
Herpes Zoster
Enzymic heterogeneity of adrenocortical lysosomes: an X-ray microanalytical study.
Herpes Zoster
Isolation of beta-N-acetylhexosaminidase from rabbit semen and its role in fertilization.
Herpes Zoster
Sperm arylsulfatase A binds to mZP2 and mZP3 glycoproteins in a nonenzymatic manner.
Herpes Zoster
The impact of oxidative stress on chaperone-mediated human sperm-egg interaction.
Herpes Zoster
Ultrastructure of opossum oocyte investing coats and their sensitivity to trypsin and hyaluronidase.
Hodgkin Disease
Urinary arylsulfatase in normal children and in patients with pediatric malignant disease.
Hydrocephalus
Cervical cord compression and severe hydrocephalus in a child with Saudi variant of multiple sulfatase deficiency. Report of case.
Hydrocephalus
Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency.
Hydrops Fetalis
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.
Hyperglycinemia, Nonketotic
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Hypersensitivity
Enzyme replacement therapy for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): experience in Hong Kong.
Hypersensitivity
Eosinophilic leucocytes and arylsulfatase activity in bronchoalveolar lavage fluid of patients with bronchial asthma.
Hypersensitivity
In vivo airway eosinophil accumulation does not enhance antigen- or propranolol-induced bronchoconstriction in guinea pigs.
Hypersensitivity
[Study on eosinophil cationic protein (ECP) and arylsulfatase B in nasal secretions and sera from patients with nasal allergy]
Hypersensitivity, Immediate
Inactivation of slow reacting substance of anaphylaxis by human eosinophil arylsulfatase.
Hypertension
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Hypertension
Evaluation of urinary enzyme patterns in patients with kidney diseases and primary benign hypertension.
Hypertension
Hypothesis: Cystic fibrosis carrier geography reflects interactions of tuberculosis and hypertension with vitamin D deficiency, altitude and temperature. Vitamin D deficiency effects and CF carrier advantage.
Hypertension
Urinary lysosomal enzyme excretion in pregnant women with hypertensive disorders.
Hypoadrenocorticism, Familial
Low maternal serum unconjugated estriol during prenatal screening as an indication of placental steroid sulfatase deficiency and X-linked ichthyosis.
Hypophosphatasia
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Hypotension
Changes in enzyme and metabolite content of effluent perfusate during preservation of dog kidneys by Collins' method.
Hypothyroidism
[Cytochemical examination of peripheral blood neutrophils of patients with hypothyroidism]
Ichthyosis
Arylsulphatase C activity in leukocytes of patients and carriers of X-linked ichthyosis.
Ichthyosis
Autosomal dominant and X-linked ichthyosis in the same family. Biochemical analysis of steroid sulfatase activity.
Ichthyosis
Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein.
Ichthyosis
Early diagnosis of recessive X-linked ichthyosis: elevation of cholesterol sulfate levels in placental sulfatase deficiency before the onset of skin symptoms.
Ichthyosis
Gas-chromatographic determination of cholesterol sulfate in plasma and erythrocytes, for the diagnosis of recessive X-linked ichthyosis.
Ichthyosis
Intermediate levels of aryl sulfatase C in human leukocytes of female carriers for X-linked recessive ichthyosis.
Ichthyosis
Low maternal serum unconjugated estriol during prenatal screening as an indication of placental steroid sulfatase deficiency and X-linked ichthyosis.
Ichthyosis
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Ichthyosis
Mutations in X-linked ichthyosis disrupt the active site structure of estrone/DHEA sulfatase.
Ichthyosis
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Ichthyosis
New assay for steroid sulfatase (EC 3.1.6.2) and its application for studies of human placental and skin sulfatase.
Ichthyosis
Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy.
Ichthyosis
Palmoplantar keratoderma with an unusual composition of stratum corneum and serum sterol derivatives: a new entity?
Ichthyosis
Placental sulfatase deficiency and congenital ichthyosis with intrauterine fetal death: case report.
Ichthyosis
Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis.
Ichthyosis
Prediction of X-linked recessive ichthyosis due to placental sulfatase deficiency. A case report.
Ichthyosis
Regulation of serum testosterone in men with steroid sulfatase deficiency: response to human chorionic gonadotropin.
Ichthyosis
Serum steroid hormone levels in neonates born from the mother with placental sulfatase deficiency.
Ichthyosis
Steroid sulfatase = aryl sulfatase C? Chromatographic and electrophoretic properties in extracts from placental microsomes and skin fibroblasts.
Ichthyosis
Steroid sulfatase activities in human leukocytes: biochemical and clinical aspects.
Ichthyosis
Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis.
Ichthyosis
Substrate specific sulfatase activity from hair follicles in recessive X-linked ichthyosis.
Ichthyosis
X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits.
Ichthyosis
X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient.
Ichthyosis
X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations.
Ichthyosis
[Placental sulfatase deficiency and sex-linked recessive ichthyosis. Two cases found in two sisters (author's transl)]
Ichthyosis
[Should we still explore placental sulfatase deficiencies? Reflections apropos of a case report]
Ichthyosis
[X-chromosomal recessive ichthyosis. Detection of heterozygote status in genetically possible carriers by determination of arylsulfatase C activity]
Ichthyosis Vulgaris
Steroid sulfatase activities in human leukocytes: biochemical and clinical aspects.
Ichthyosis, X-Linked
Congenital hypopituitarism as a cause of undetectable estriol levels in the maternal triple-marker screen.
Ichthyosis, X-Linked
Placental steroid deficiency: association with arylsulfatase A deficiency.
Ichthyosis, X-Linked
Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis.
Infections
Activity of some hepatic enzymes in schistosomiasis and concomitant alteration of arylsulfatase B.
Infections
Biochemical characterization of arylsulfatases detected in granulomatous inflammation.
Infections
Evidence for sulfate derepression of an arylsulfatase gene of Colletotrichum gloeosporioides f. sp. malvae during infection of round-leaved mallow, Malva pusilla.
Infections
In vitro correction of iduronate-2-sulfatase deficiency by adenovirus-mediated gene transfer.
Infections
Leishmania mexicana: a cytochemical and quantitative study of lysosomal enzymes in infected rat bone marrow-derived macrophages.
Infections
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Infertility
Inhibition of hamster sperm acrosomal enzyme by gossypol is closely associated with the decrease in fertilization capacity.
Insulin Resistance
Autosomal dominant familial dysbetalipoproteinemia: A pathophysiological framework and practical approach to diagnosis and therapy.
Intellectual Disability
Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.
Intellectual Disability
Reduced arylsulphatase A activity in children with severe mental retardation.
Intervertebral Disc Degeneration
Increased sulfatase 1 gene expression in degenerative intervertebral disc cells.
Keratoderma, Palmoplantar
Estrone- and dehydroepiandrosterone-sulfatase activities in human female epidermis.
Kidney Failure, Chronic
Clinical implications of genetic and acquired defects in catecholamine synthesis and metabolism.
Kidney Neoplasms
Hypoxia negatively regulates heparan sulfatase 2 expression in renal cancer cell lines.
Lafora Disease
Myoclonic epilepsy of Lafora and arylsulphatase A deficiency in the same patient.
Leiomyoma
Differential effect of gonadotropin-releasing hormone analogue treatment on estrogen levels and sulfatase activity in uterine leiomyoma and myometrium.
Leukemia
Evaluation of selected lichens from iceland for cancer chemopreventive and cytotoxic activity.
Leukemia
Identification and characterization of arylsulfatase A and B of the rat basophil leukemia tumor.
Leukemia
Natural killer cell cytolytic granule-associated enzymes. I. Purification, characterization, and analysis of function of an enzyme with sulfatase activity.
Leukemia
Principal drug-metabolizing enzyme systems in L1210 leukemia sensitive or resistant to BCNU in vivo.
Leukemia
Processing enzymes acting on carbohydrate moiety of lysosomal hydrolases in leukemic cells: elevated activity of N-acetylglucosamine-1-phosphotransferase.
Leukemia
Urinary arylsulfatase in normal children and in patients with pediatric malignant disease.
Leukemia
[Arylsulfatase A: usefulness and limitations in the differential diagnosis of leukemias]
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Expression of arylsulfatase B variant from leukocytes in chronic myelogenous leukemia related to chemotherapy.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Lysosomal arylsulfatases of human leukocytes: increment of phosphorylated B variants in chronic myelogenous leukemia.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Processing enzymes acting on carbohydrate moiety of lysosomal hydrolases in leukemic cells: elevated activity of N-acetylglucosamine-1-phosphotransferase.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Protein phosphorylation of lysosomal arylsulfatase B in normal and leukemic leukocytes.
Leukodystrophy, Globoid Cell
Arylsulfatase A and beta-galactosidase activities in leukocytes and lymphocytes from normal and psychiatric subjects. Effects of blood-processing delay and interleukin-2 stimulation.
Leukodystrophy, Globoid Cell
Biochemical aspects of globoid and metachromatic leukodystrophies.
Leukodystrophy, Globoid Cell
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.
Leukodystrophy, Globoid Cell
Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe-affected non-human primates by intracerebral lentiviral gene therapy.
Leukodystrophy, Metachromatic
A 5-year-old male child with late infantile metachromatic leukodystrophy: a case report.
Leukodystrophy, Metachromatic
A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.
Leukodystrophy, Metachromatic
A closer look at ARSA activity in a patient with metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
A method for rapid detection of arylsulfatase A pseudodeficiency mutations.
Leukodystrophy, Metachromatic
A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme.
Leukodystrophy, Metachromatic
A new analytical bench assay for the determination of arylsulfatase a activity toward galactosyl-3-sulfate ceramide: implication for metachromatic leukodystrophy diagnosis.
Leukodystrophy, Metachromatic
A new polymorphism of arylsulfatase A within the coding region.
Leukodystrophy, Metachromatic
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.
Leukodystrophy, Metachromatic
A Novel Mutation in the Arylsulfatase A Gene Associated with Adult-Onset Metachromatic Leukodystrophy without Clinical Evidence of Neuropathy.
Leukodystrophy, Metachromatic
A novel mutation of the arylsulfatase A gene in late-onset metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
A Rare Case of Metachromatic Leukodystrophy Confirmed by Arylsulfatase A.
Leukodystrophy, Metachromatic
A spontaneously immortalized Schwann cell line to study the molecular aspects of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
Leukodystrophy, Metachromatic
A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient.
Leukodystrophy, Metachromatic
A variant form of metachromatic leukodystrophy without arylsulfatase deficiency.
Leukodystrophy, Metachromatic
AAV1 Mediated Co-expression of Formylglycine-Generating Enzyme and Arylsulfatase A Efficiently Corrects Sulfatide Storage in a Mouse Model of Metachromatic Leukodystrophy.
Leukodystrophy, Metachromatic
Abnormalities of acid-base balance and predisposition to metabolic acidosis in Metachromatic Leukodystrophy patients.
Leukodystrophy, Metachromatic
Adult metachromatic leukodystrophy with an unusual relapsing-remitting course.
Leukodystrophy, Metachromatic
Adult metachromatic leukodystrophy without deficiency of arylsulphatase.
Leukodystrophy, Metachromatic
Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.
Leukodystrophy, Metachromatic
Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case.
Leukodystrophy, Metachromatic
Advances in the molecular genetics of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
An adult onset metachromatic leukodystrophy with dominant inheritance and normal arylsulphatase A levels.
Leukodystrophy, Metachromatic
An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A.
Leukodystrophy, Metachromatic
An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
An arylsulphatase A (ARSA) frameshift mutation (289insG) in metachromatic leukodystrophy (MLD).
Leukodystrophy, Metachromatic
An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.
Leukodystrophy, Metachromatic
An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient.
Leukodystrophy, Metachromatic
An improved method for the determination of leukocyte arylsulfatase A and its application to the diagnosis of metachromatic leukodystrophy in homozygous and heterozygous states.
Leukodystrophy, Metachromatic
An Italian cohort study identifies four new pathologic mutations in the ARSA gene.
Leukodystrophy, Metachromatic
An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.
Leukodystrophy, Metachromatic
An unusual form of arylsulfatase A deficiency combined with sulfatide-excretion and a normal sulfatide-loading.
Leukodystrophy, Metachromatic
An Unusual Homozygous Arylsulfatase A Pseudodeficiency in a Metachromatic Leukodystrophy Tunisian Patient.
Leukodystrophy, Metachromatic
Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Anti-inflammatory Therapy With Simvastatin Improves Neuroinflammation and CNS Function in a Mouse Model of Metachromatic Leukodystrophy.
Leukodystrophy, Metachromatic
Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
ARSA gene mutations in five Chinese metachromatic leukodystrophy patients.
Leukodystrophy, Metachromatic
Artificially Induced Pluripotent Stem Cell-Derived Whole-Brain Organoid for Modelling the Pathophysiology of Metachromatic Leukodystrophy and Drug Repurposing.
Leukodystrophy, Metachromatic
Arylsulfatase A (ASA) in Parkinson's Disease: From Pathogenesis to Biomarker Potential.
Leukodystrophy, Metachromatic
Arylsulfatase A activity in human urine: quantitative studies on patients with lysosomal disorders including metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Arylsulfatase A and beta-galactosidase activities in leukocytes and lymphocytes from normal and psychiatric subjects. Effects of blood-processing delay and interleukin-2 stimulation.
Leukodystrophy, Metachromatic
Arylsulfatase A deficiency causes seminolipid accumulation and a lysosomal storage disorder in Sertoli cells.
Leukodystrophy, Metachromatic
Arylsulfatase A deficiency in bone marrow fibroblasts of two different forms of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Arylsulfatase A in the urine and metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Arylsulfatase A Overexpressing Human iPSC-derived Neural Cells Reduce CNS Sulfatide Storage in a Mouse Model of Metachromatic Leukodystrophy.
Leukodystrophy, Metachromatic
Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.
Leukodystrophy, Metachromatic
Arylsulfatase A pseudodeficiency-associated mutations: population studies and identification of a novel haplotype.
Leukodystrophy, Metachromatic
Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.
Leukodystrophy, Metachromatic
Arylsulfatase A, a genetic modifier of Parkinson's disease, is an ?-synuclein chaperone.
Leukodystrophy, Metachromatic
Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays.
Leukodystrophy, Metachromatic
Arylsulfatases A and B in metachromatic leukodystrophy and Maroteaux-Lamy syndrome: studies with 4-methylumelliferyl sulfate.
Leukodystrophy, Metachromatic
Arylsulphatase A and B in juvenile metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs.
Leukodystrophy, Metachromatic
Ascorbic acid-2-sulfate sulfhohydrolase activity of human arylsulfatase A.
Leukodystrophy, Metachromatic
Attenuated activities and structural alterations of arylsulfatase A in tissues from subjects with pseudo arylsulfatase A deficiency.
Leukodystrophy, Metachromatic
Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations.
Leukodystrophy, Metachromatic
Axons mediate the distribution of arylsulfatase A within the mouse hippocampus upon gene delivery.
Leukodystrophy, Metachromatic
Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy.
Leukodystrophy, Metachromatic
Biochemical aspects of globoid and metachromatic leukodystrophies.
Leukodystrophy, Metachromatic
Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations.
Leukodystrophy, Metachromatic
Biochemical profiling to predict disease severity in metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Bone marrow stem cell gene therapy of arylsulfatase A-deficient mice, using an arylsulfatase A mutant that is hypersecreted from retrovirally transduced donor-type cells.
Leukodystrophy, Metachromatic
Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: effects on visceral and nervous system disease manifestations.
Leukodystrophy, Metachromatic
Brain cell type-specific endocytosis of arylsulfatase A identifies limitations of enzyme-based therapies for metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Brain Penetrable Inhibitors of Ceramide Galactosyltransferase for the Treatment of Lysosomal Storage Disorders.
Leukodystrophy, Metachromatic
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
Leukodystrophy, Metachromatic
Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis.
Leukodystrophy, Metachromatic
Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients.
Leukodystrophy, Metachromatic
Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy.
Leukodystrophy, Metachromatic
Cerebroside-sulphatase and arylsulphatase A deficiency in metachromatic leukodystrophy (ML).
Leukodystrophy, Metachromatic
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry.
Leukodystrophy, Metachromatic
Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency.
Leukodystrophy, Metachromatic
Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Clinical course of adult metachromatic leukodystrophy presenting as schizophrenia. A report of two living cases in siblings.
Leukodystrophy, Metachromatic
Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency.
Leukodystrophy, Metachromatic
Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.
Leukodystrophy, Metachromatic
Co-occurrence of Metachromatic Leukodystrophy in Phelan-McDermid Syndrome.
Leukodystrophy, Metachromatic
Coexpression of Formylglycine-Generating Enzyme Is Essential for Synthesis and Secretion of Functional Arylsulfatase A in a Mouse Model of Metachromatic Leukodystrophy.
Leukodystrophy, Metachromatic
Coexpression of formylglycine-generating enzyme is essential for synthesis and secretion of functional arylsulfatase A in a mouse model of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity.
Leukodystrophy, Metachromatic
Comparative efficacy and safety of multiple routes of direct CNS administration of adeno-associated virus gene transfer vector serotype rh.10 expressing the human arylsulfatase A cDNA to nonhuman primates.
Leukodystrophy, Metachromatic
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.
Leukodystrophy, Metachromatic
Complex arylsulfatase A alleles causing metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.
Leukodystrophy, Metachromatic
Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease.
Leukodystrophy, Metachromatic
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.
Leukodystrophy, Metachromatic
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.
Leukodystrophy, Metachromatic
Correction of Brain Oligodendrocytes by AAVrh.10 Intracerebral Gene Therapy in Metachromatic Leukodystrophy Mice.
Leukodystrophy, Metachromatic
Correction of enzyme deficiency in metachromatic leukodystrophy fibroblasts by retroviral-mediated transfer of the human arylsulphatase A gene.
Leukodystrophy, Metachromatic
Correction to: Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).
Leukodystrophy, Metachromatic
Critical issues for the proper diagnosis of Metachromatic Leukodystrophy.
Leukodystrophy, Metachromatic
Croatian population data for arylsulfatase a pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome.
Leukodystrophy, Metachromatic
Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases.
Leukodystrophy, Metachromatic
Decline in brainstem auditory-evoked potentials coincides with loss of spiral ganglion cells in arylsulfatase A-deficient mice.
Leukodystrophy, Metachromatic
Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Delay of myelin formation in arylsulphatase A-deficient mice.
Leukodystrophy, Metachromatic
Delayed posthypoxic demyelination. Association with arylsulfatase A deficiency and lactic acidosis on proton MR spectroscopy.
Leukodystrophy, Metachromatic
Deletion of fatty acid amide hydrolase reduces lyso-sulfatide levels but exacerbates metachromatic leukodystrophy in mice.
Leukodystrophy, Metachromatic
Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Detection of arylsulfatase A in leukocytes and urines of late infantile metachromatic leukodystrophy. Report of 3 cases.
Leukodystrophy, Metachromatic
Detection of homozygotes and heterozygotes for metachromatic leukodystrophy in lymphoid cell lines and peripheral leukocytes.
Leukodystrophy, Metachromatic
Determination of lysosomal enzymes in saliva. Confirmation of the diagnosis of metachromatic leukodystrophy and fucosidosis by enzyme analysis.
Leukodystrophy, Metachromatic
Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies.
Leukodystrophy, Metachromatic
Developing therapeutic approaches for metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Diagnosis of arylsulfatase A deficiency in intact cultured cells using a fluorescent derivative of cerebroside sulfate.
Leukodystrophy, Metachromatic
Diagnosis of metachromatic leukodystrophy by immune quantification of arylsulphatase A protein and activity in dried blood spots.
Leukodystrophy, Metachromatic
Diagnosis of pseudo-arylsulfatase A deficiency with electrophoretic techniques.
Leukodystrophy, Metachromatic
Diffuse-disseminated sclerosis combined with partial arylsulfatase A (ASA) deficiency. Mixed heterozygosity of ASA- and pseudo-ASA-deficiency?
Leukodystrophy, Metachromatic
Diffusion-weighted magnetic resonance imaging findings in a case of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Discrimination between metachromatic leukodystrophy and pseudo-deficiency of arylsulfatase A by restriction digest of amplified gene fragments.
Leukodystrophy, Metachromatic
Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.
Leukodystrophy, Metachromatic
Early signs of neurolipidosis-related behavioural alterations in a murine model of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Efficacy of enzyme replacement therapy in an aggravated mouse model of metachromatic leukodystrophy declines with age.
Leukodystrophy, Metachromatic
EFFICIENT INTRACEREBRAL DELIVERY OF AAV5 VECTOR ENCODING HUMAN ARSA IN NON-HUMAN PRIMATE.
Leukodystrophy, Metachromatic
Electrophoresis of arylsulfatase from normal individuals and patients with metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: dependence on reduction of arylsulfatase A activity.
Leukodystrophy, Metachromatic
Embryonic stem cell-based reduction of central nervous system sulfatide storage in an animal model of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
Leukodystrophy, Metachromatic
Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Enzyme replacement in the CSF to treat metachromatic leukodystrophy in mouse model using single intracerebroventricular injection of self-complementary AAV1 vector.
Leukodystrophy, Metachromatic
Enzyme, cell and gene-based therapies for metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Enzymic detection of metachromatic leukodystrophy patients and heterozygotes.
Leukodystrophy, Metachromatic
Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency.
Leukodystrophy, Metachromatic
Evolutionary redesign of the lysosomal enzyme arylsulfatase A increases efficacy of enzyme replacement therapy for metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Ex vivo cell-mediated gene therapy for metachromatic leukodystrophy using neurospheres.
Leukodystrophy, Metachromatic
Expression and purification of a human, soluble Arylsulfatase A for Metachromatic Leukodystrophy enzyme replacement therapy.
Leukodystrophy, Metachromatic
First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by 'immunoprecipitation-electrophoresis'.
Leukodystrophy, Metachromatic
Gallbladder cancer with ascites in a child with metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Generation of a human iPSC line (MPIi007-A) from a patient with Metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy.
Leukodystrophy, Metachromatic
Genetic complementation in somatic cell hybrids of cerebroside sulfatase activator deficiency and metachromatic leukodystrophy fibroblasts.
Leukodystrophy, Metachromatic
Genotype assignments in a family with the pseudo arylsulfatase a deficiency trait without metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency.
Leukodystrophy, Metachromatic
Hematopoietic SCT: a useful treatment for late metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Heterogeneity in late-onset metachromatic leukodystrophy. Effect of inhibitors of cysteine proteinases.
Leukodystrophy, Metachromatic
High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Hyperactivity, neuromotor defects, and impaired learning and memory in a mouse model for metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Ichthyosis: the skin manifestation of multiple sulfatase deficiency.
Leukodystrophy, Metachromatic
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.
Leukodystrophy, Metachromatic
Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).
Leukodystrophy, Metachromatic
Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).
Leukodystrophy, Metachromatic
Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy.
Leukodystrophy, Metachromatic
Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Immunofluorescence staining and immunological studies of arylsulphatase A of multiple sulphatase deficiency (MSD) and metachromatic leukodystrophy (MLD) fibroblasts.
Leukodystrophy, Metachromatic
Immunologic studies of arylsulfatase A in normal and metachromatic leukodystrophy liver.
Leukodystrophy, Metachromatic
Immunological evidence for deficiency in an activator protein for sulfatide sulfatase in a variant form of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Immunological studies of sulfatase A in normals and in metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Impaired cerebroside sulfate hydrolysis in fibroblasts of sibs with "pseudo" arylsulfatase A deficiency without metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype.
Leukodystrophy, Metachromatic
In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells.
Leukodystrophy, Metachromatic
In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice.
Leukodystrophy, Metachromatic
Increased concentration of the CSF Tau protein and its phosphorylated form in the late juvenile metachromatic leukodystrophy form: a case report.
Leukodystrophy, Metachromatic
Increased prevalence of pervasive developmental disorders in children with slight arylsulfatase A deficiency.
Leukodystrophy, Metachromatic
Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Induction of tolerance to human arylsulfatase a in a mouse model of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Infantile metachromatic leukodystrophy: deficiency of arylsulfatase A in skin fibroblasts: heterozygote detection.
Leukodystrophy, Metachromatic
Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.
Leukodystrophy, Metachromatic
Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers.
Leukodystrophy, Metachromatic
Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Intracerebral gene therapy using AAVrh.10-hARSA recombinant vector to treat patients with early-onset forms of metachromatic leukodystrophy: preclinical feasibility and safety assessments in non-human primates.
Leukodystrophy, Metachromatic
Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study.
Leukodystrophy, Metachromatic
Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?
Leukodystrophy, Metachromatic
Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation.
Leukodystrophy, Metachromatic
Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases.
Leukodystrophy, Metachromatic
Juvenile-onset metachromatic leukodystrophy: biochemical and electrophysiologic studies.
Leukodystrophy, Metachromatic
Lacritin and other autophagy associated proteins in ocular surface health.
Leukodystrophy, Metachromatic
Late adult metachromatic leukodystrophy. Arylsulfatase A activity of leukocytes in two families.
Leukodystrophy, Metachromatic
Late infantile form metachromatic leukodystrophy: report of one case.
Leukodystrophy, Metachromatic
Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele.
Leukodystrophy, Metachromatic
Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency.
Leukodystrophy, Metachromatic
Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene.
Leukodystrophy, Metachromatic
Late-onset metachromatic leukodystrophy: diagnostic problems elucidated by a case report.
Leukodystrophy, Metachromatic
Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.
Leukodystrophy, Metachromatic
Lentivector integration sites in ependymal cells from a model of metachromatic leukodystrophy: non-B DNA as a new factor influencing integration.
Leukodystrophy, Metachromatic
Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial.
Leukodystrophy, Metachromatic
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.
Leukodystrophy, Metachromatic
Leukocyte arylsulfatase A activity in patients with alcohol-related cirrhosis.
Leukodystrophy, Metachromatic
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
Leukodystrophy, Metachromatic
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.
Leukodystrophy, Metachromatic
Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retroviral vector.
Leukodystrophy, Metachromatic
Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Low arylsulphatase A activity in a family without metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Low sulfatase activities in metachromatic leukodystrophy (MLD). A controlled study of enzymes in 9 living and 4 autopsied patients with MLD.
Leukodystrophy, Metachromatic
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Lysosomal sulfoglycolipid storage in the kidneys of mice deficient for arylsulfatase A (ASA) and of double-knockout mice deficient for ASA and galactosylceramide synthase.
Leukodystrophy, Metachromatic
Mannose 6-phosphate receptor-dependent endocytosis of lysosomal enzymes is increased in sulfatide-storing kidney cells.
Leukodystrophy, Metachromatic
Measurement of recombinant human arylsulfatase A and leukocyte sulfatase activities by analytical isotachophoresis.
Leukodystrophy, Metachromatic
Metabolic correction in oligodendrocytes derived from metachromatic leukodystrophy mouse model by using encapsulated recombinant myoblasts.
Leukodystrophy, Metachromatic
Metabolism of fatty acid-labeled cerebroside sulfate in cultured cells from controls and metachromatic leukodystrophy patients. Use in the prenatal identification of a false positive fetus.
Leukodystrophy, Metachromatic
METACHROMATIC FORM OF DIFFUSE CEREBRAL SCLEROSIS. IV. LOW SULFATASE ACTIVITY IN THE URINE OF NINE LIVING PATIENTS WITH METACHROMATIC LEUKODYSTROPHY (MLD).
Leukodystrophy, Metachromatic
Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity: a controlled study of brain, liver and kidney in four patients with metachromatic leukodystrophy (MLD).
Leukodystrophy, Metachromatic
Metachromatic form of diffuse cerebral sclerosis. VI. A rapid test for the sulfatase A deficiency in metachromatic leukodystrophy (MLD) urine.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy (MLD). IX. Qualitative and quantitative differences in urinary arylsulfatase A in different forms of MLD.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy (MLD). X. Immunological studies of the abnormal sulfatase A.
Leukodystrophy, Metachromatic
Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy and arylsulphatase A: relations and discrepancies.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy and its effects on the gallbladder: a case report.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy and nonverbal learning disability: neuropsychological and neuroradiological findings in heterozygous carriers.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy and pseudoarylsulfatase A deficiency in a Danish family.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy without arylsulfatase A deficiency.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy. I. Prenatal detection of arylsulphatase A deficiency.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy. II. Direct determination of arylsulphatase A activity in amniotic fluid.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy. Ultrastructural and enzymatic study of a case of variant O form.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy: Biochemical characterization of two (p.307Glu?Lys, p.318Trp?Cys) arylsulfatase A mutations.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy: consequences of sulphatide accumulation.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy: Disease spectrum and approaches for treatment.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy: molecular genetics and an animal model.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy: multiple nonfunctional and pseudodeficiency alleles in a pedigree: problems with diagnosis and counseling.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
Leukodystrophy, Metachromatic
Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.
Leukodystrophy, Metachromatic
Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.
Leukodystrophy, Metachromatic
Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene.
Leukodystrophy, Metachromatic
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
Leukodystrophy, Metachromatic
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Leukodystrophy, Metachromatic
Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.
Leukodystrophy, Metachromatic
Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland.
Leukodystrophy, Metachromatic
Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.
Leukodystrophy, Metachromatic
Molecular basis of different forms of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews.
Leukodystrophy, Metachromatic
Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease.
Leukodystrophy, Metachromatic
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation.
Leukodystrophy, Metachromatic
Molecular genetics of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Monozygotic twins with presumed metachromatic leukodystrophy. Activity of arylsulfatase A in serum of patients and family.
Leukodystrophy, Metachromatic
Morphological alterations in the inner ear of the arylsulfatase A-deficient mouse.
Leukodystrophy, Metachromatic
Multiple molecular forms of arylsulfatase A in different forms of metachromatic leukodystrophy (MLD).
Leukodystrophy, Metachromatic
Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.
Leukodystrophy, Metachromatic
Multiple sulfatase deficiencies in cultured skin fibroblasts. Occurrence in patients with a variant form of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Multiple sulfatase deficiency with a novel biochemical presentation.
Leukodystrophy, Metachromatic
Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.
Leukodystrophy, Metachromatic
Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Leukodystrophy, Metachromatic
Neuromotor alterations and cerebellar deficits in aged arylsulfatase A-deficient transgenic mice.
Leukodystrophy, Metachromatic
Neuropathological and enzymatic studies in a case of adult form of metachromatic leukodystrophy with very late onset of clinical symptoms.
Leukodystrophy, Metachromatic
Neurophysiology and MRI in late-infantile metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Non-inhibitory antibodies impede lysosomal storage reduction during enzyme replacement therapy of a lysosomal storage disease.
Leukodystrophy, Metachromatic
Nonclinical comparability studies of recombinant human arylsulfatase A addressing manufacturing process changes.
Leukodystrophy, Metachromatic
Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity.
Leukodystrophy, Metachromatic
Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients.
Leukodystrophy, Metachromatic
Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease.
Leukodystrophy, Metachromatic
Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Ocular findings in metachromatic leukodystrophy. An electron microscopic and enzyme study in different clinical and genetic variants.
Leukodystrophy, Metachromatic
Oligodendroglial progenitor cell therapy limits central neurological deficits in mice with metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T.
Leukodystrophy, Metachromatic
On a rare atypical form of metachromatic leukodystrophy (MLD): "neurological non-mld patients with low levels of arylsulphatase A". Description of two cases.
Leukodystrophy, Metachromatic
Overexpression of arylsulfatase A gene in fibroblasts from metachromatic leukodystrophy patients does not induce a new phenotype.
Leukodystrophy, Metachromatic
P-Nitrocatechol sulfate for arylsulfatase assay: detection of metachromatic leukodystrophy variants.
Leukodystrophy, Metachromatic
Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer.
Leukodystrophy, Metachromatic
Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Pathology of the Gallbladder in a Child with Metachromatic Leukodystrophy.
Leukodystrophy, Metachromatic
Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.
Leukodystrophy, Metachromatic
Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe-affected non-human primates by intracerebral lentiviral gene therapy.
Leukodystrophy, Metachromatic
Pharmacokinetic Modeling of Intrathecally Administered Recombinant Human Arylsulfatase A (TAK-611) in Children With Metachromatic Leukodystrophy.
Leukodystrophy, Metachromatic
Pharmacokinetics and brain uptake in the rhesus monkey of a fusion protein of arylsulfatase a and a monoclonal antibody against the human insulin receptor.
Leukodystrophy, Metachromatic
Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Phenotypic consequences of low arylsulfatase A genotypes (ASAp/ASAp and ASA-/ASAp): does there exist an association with multiple sclerosis?
Leukodystrophy, Metachromatic
Placental steroid deficiency: association with arylsulfatase A deficiency.
Leukodystrophy, Metachromatic
Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?
Leukodystrophy, Metachromatic
Population frequency of the arylsulphatase A pseudo-deficiency allele.
Leukodystrophy, Metachromatic
Potential of surfactant-coated nanoparticles to improve brain delivery of arylsulfatase A.
Leukodystrophy, Metachromatic
Prenatal diagnosis of metachromatic leukodystrophy by electrophoretic and immunologic techniques.
Leukodystrophy, Metachromatic
Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test.
Leukodystrophy, Metachromatic
Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase A activity in chorion and cultured amniotic fluid cells.
Leukodystrophy, Metachromatic
Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts.
Leukodystrophy, Metachromatic
Presymptomatic diagnosis: metachromatic leukodystrophy or pseudo arylsulphatase A deficiency?
Leukodystrophy, Metachromatic
Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland.
Leukodystrophy, Metachromatic
Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations.
Leukodystrophy, Metachromatic
Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain.
Leukodystrophy, Metachromatic
Prevalence of partial cerebroside sulfate sulfatase (arylsulfatase A) defect in adult psychiatric patients.
Leukodystrophy, Metachromatic
Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology.
Leukodystrophy, Metachromatic
Problems in the clinical interpretation of arylsulfatase A deficiency.
Leukodystrophy, Metachromatic
Pseudo arylsulfatase A deficiency. Biosynthesis of an abnormal arylsulfatase A.
Leukodystrophy, Metachromatic
Pseudo arylsulfatase A deficiency: evidence for a structurally altered enzyme.
Leukodystrophy, Metachromatic
Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Pseudodeficiency of arylsulphatase A: strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms.
Leukodystrophy, Metachromatic
Qualitative and quantitative differences in sulfatase A which distinguish different forms of classical metachromatic leukodystrophy (MLD).
Leukodystrophy, Metachromatic
Qualitative and quantitative differences in sulfatase A which distinguish the different forms of classical metachromatic leukodystrophy (MLD).
Leukodystrophy, Metachromatic
Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography tandem mass spectrometry.
Leukodystrophy, Metachromatic
Rapid detection of common metachromatic leukodystrophy mutations by restriction analysis of arylsulfatase A gene amplimers.
Leukodystrophy, Metachromatic
Rapid detection of common mutation of arylsulfatase A in metachromatic leukodystrophy by polymerase chain reaction with a mismatched primer.
Leukodystrophy, Metachromatic
Reduced brain cholesterol content in arylsulfatase A-deficient mice.
Leukodystrophy, Metachromatic
Restoration of arylsulphatase A activity in human-metachromatic-leucodystrophy fibroblasts via retroviral-vector-mediated gene transfer.
Leukodystrophy, Metachromatic
Retinal pigment epithelial degeneration and arylsulfatase A deficiency.
Leukodystrophy, Metachromatic
Retinal pigment epithelial degeneration associated with leukocytic arylsulfatase A deficiency.
Leukodystrophy, Metachromatic
Retrovirally expressed human arylsulfatase A corrects the metabolic defect of arylsulfatase A-deficient mouse cells.
Leukodystrophy, Metachromatic
Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Safety of Direct Intraparenchymal AAVrh.10-Mediated Central Nervous System Gene Therapy for Metachromatic Leukodystrophy.
Leukodystrophy, Metachromatic
Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial.
Leukodystrophy, Metachromatic
Saposin B-Deficient Metachromatic Leukodystrophy Mimicking Acute Flaccid Paralysis.
Leukodystrophy, Metachromatic
Saposin B-dependent reconstitution of arylsulfatase A activity in vitro and in cell culture models of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Serial magnetic resonance imaging and neurophysiological studies in multiple sulphatase deficiency.
Leukodystrophy, Metachromatic
Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations.
Leukodystrophy, Metachromatic
Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing.
Leukodystrophy, Metachromatic
Site specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines.
Leukodystrophy, Metachromatic
Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Slow progression of juvenile metachromatic leukodystrophy 6 years after bone marrow transplantation.
Leukodystrophy, Metachromatic
Somatic cell hybridization studies on the genetic regulation and allelic mutations in metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient.
Leukodystrophy, Metachromatic
Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder.
Leukodystrophy, Metachromatic
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.
Leukodystrophy, Metachromatic
Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up.
Leukodystrophy, Metachromatic
Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency.
Leukodystrophy, Metachromatic
Studies in metachromatic leukodystrophy. XIII. Purification of sulfatase A from normal human liver.
Leukodystrophy, Metachromatic
Studies in metachromatic leukodystrophy. XIV. Purification and subunit structure of human liver arylsulfatase A.
Leukodystrophy, Metachromatic
Studies in metachromatic leukodystrophy: XV. Purification of normal and mutant arylsulfatase A from human liver.
Leukodystrophy, Metachromatic
Successful transduction of oligodendrocytes and restoration of arylsulfatase A deficiency in metachromatic leukodystrophy fibroblasts using an adenovirus vector.
Leukodystrophy, Metachromatic
Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.
Leukodystrophy, Metachromatic
Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples.
Leukodystrophy, Metachromatic
Sulfatide excreting heterozygous carrier of juvenile metachromatic leukodystrophy or asymptomatic patient of adult metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Sulfatide storage in neurons causes hyperexcitability and axonal degeneration in a mouse model of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Sulfogalactosylsphingosine sulfatase. Characteristics of the enzyme and its deficiency in metachromatic leukodystrophy in human cultured skin fibroblasts.
Leukodystrophy, Metachromatic
Synthesis and characterization of NBD-PS: a fluorescent analog of cerebroside arylsulfatase A deficiency disorders.
Leukodystrophy, Metachromatic
Synthesis and maturation of cross-reactive glycoprotein in fibroblasts deficient in arylsulfatase A activity.
Leukodystrophy, Metachromatic
Synthesis and processing of arylsulfatase A in human skin fibroblasts.
Leukodystrophy, Metachromatic
Synthesis and structure-activity relationships of cerebroside analogues as substrates of cerebroside sulphotransferase and discovery of a competitive inhibitor.
Leukodystrophy, Metachromatic
Synthesis of pyrene derivatives of cerebroside sulfate and their use for determining arylsulfatase A activity.
Leukodystrophy, Metachromatic
Synthetic sulfogalactosylceramide (sulfatide) and its use for the mass spectrometric quantitative urinary determination in metachromatic leukodystrophies.
Leukodystrophy, Metachromatic
Telencephalic histopathology and changes in behavioural and neural plasticity in a murine model for metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
The clinical features and diagnosis of Metachromatic leukodystrophy: A case series of Iranian Pediatric Patients.
Leukodystrophy, Metachromatic
The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A.
Leukodystrophy, Metachromatic
The nature of the residual arylsulfatase activity in metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).
Leukodystrophy, Metachromatic
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots.
Leukodystrophy, Metachromatic
Toward Reference Intervals of ARSA Activity in the Cerebrospinal Fluid: Implication for the Clinical Practice of Metachromatic Leukodystrophy.
Leukodystrophy, Metachromatic
Transduced fibroblasts and metachromatic leukodystrophy lymphocytes transfer arylsulfatase A to myelinating glia and deficient cells in vitro.
Leukodystrophy, Metachromatic
Transduction of fibroblasts and CD34+ progenitors using a selectable retroviral vector containing cDNAs encoding arylsulfatase A and CD24.
Leukodystrophy, Metachromatic
Transport of arylsulfatase a across the blood-brain barrier in vitro.
Leukodystrophy, Metachromatic
Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.
Leukodystrophy, Metachromatic
Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles.
Leukodystrophy, Metachromatic
Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene.
Leukodystrophy, Metachromatic
Ultra-performance liquid chromatography/tandem mass spectrometry for determination of sulfatides in dried blood spots from patients with metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Ultrastructural findings of peripheral nerve in a preclinical case of adult metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Understanding the Metabolic Consequences of Human Arylsulfatase A Deficiency through a Computational Systems Biology Study.
Leukodystrophy, Metachromatic
Unusual clinical presentation in two cases of multiple sulfatase deficiency.
Leukodystrophy, Metachromatic
Urine sulfatides and the diagnosis of metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.
Leukodystrophy, Metachromatic
Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree.
Leukodystrophy, Metachromatic
[Activity of aryl sulfatase A enzyme in patients with schizophrenic disorders]
Leukodystrophy, Metachromatic
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Leukodystrophy, Metachromatic
[Demonstration of arylsulfatase A deficiency in metachromatic leukodystrophy and prenatal diagnosis of the disease]
Leukodystrophy, Metachromatic
[Diagnostic value of the determination of intraleukocytic arylsulfatase for the early detection of metachromatic leukodystrophy]
Leukodystrophy, Metachromatic
[Differentiation between arylsulfatase A deficiency and pseudo-deficiency]
Leukodystrophy, Metachromatic
[Genomic analysis of Japanese patients with adult-type metachromatic leukodystrophy]
Leukodystrophy, Metachromatic
[Metachromatic leucodystrophy. Clinical, biological, and therapeutic aspects]
Leukodystrophy, Metachromatic
[Metachromatic leukodystrophy and multiple sulfatase deficiency]
Leukodystrophy, Metachromatic
[Molecular analysis of Japanese patients with metachromatic leukodystrophy]
Leukodystrophy, Metachromatic
[Molecular screening of the major mutations in the ARSA gene in patients with metachromatic leukodystrophy]
Leukodystrophy, Metachromatic
[Pathophysiology of sulfatide metabolism in metachromatic leukodystrophy]
Leukoencephalopathies
Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency.
Leukoencephalopathies
Delayed posthypoxic demyelination. Association with arylsulfatase A deficiency and lactic acidosis on proton MR spectroscopy.
Leukoencephalopathies
Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy.
Leukoencephalopathies
Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography tandem mass spectrometry.
Lipidoses
Hyperactivity, neuromotor defects, and impaired learning and memory in a mouse model for metachromatic leukodystrophy.
Lipidoses
In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice.
Lipidoses
Utility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction.
Liver Cirrhosis
Changes in the catalytic activities of proteoglycan-degrading lysosomal enzymes in parenchymal and non-parenchymal liver cells and in serum during the development of experimental liver fibrosis.
Liver Diseases
Knockout of sulfatase 2 is associated with decreased steatohepatitis and fibrosis in a mouse model of nonalcoholic fatty liver disease.
Liver Diseases
The effect of liver cirrhosis on the regulation and expression of drug metabolizing enzymes.
Liver Diseases
[A study of lysosomal enzyme activities in serum and leukocytes in chronic hepatic disease (author's transl)]
Liver Neoplasms
hSulf1 Sulfatase promotes apoptosis of hepatocellular cancer cells by decreasing heparin-binding growth factor signaling.
Liver Neoplasms
Induction of Lysosome-associated Protein Transmembrane 4 Beta via Sulfatase 2 Enhances Autophagic Flux in Liver Cancer Cells.
Liver Neoplasms, Experimental
Isolation and comparison of arylsulfatase A from rat liver and Morris hepatoma 7777.
Lung Diseases
Immunoglobulins, complement and arylsulphatase in sputum from chronic bronchitis and other pulmonary diseases.
Lung Neoplasms
Alterations of protein kinase isozymes in transplantable human lung cancer with special reference to the phosphorylation of arylsulfatase B.
Lung Neoplasms
Phosphorylation of human lysosomal arylsulfatase B by cAMP-dependent protein kinase. Different sites of phosphorylation between normal and cancer tissues.
Lung Neoplasms
Phosphorylation on protein and carbohydrate moieties of a lysosomal arylsulfatase B variant in human lung cancer transplanted into athymic mice.
Lung Neoplasms
[Phosphorylation of lysosomal hydrolases in human cancer and its significance]
Lymphatic Metastasis
High expression of steroid sulfatase mRNA predicts poor prognosis in patients with estrogen receptor-positive breast cancer.
Lysosomal Storage Diseases
A closer look at ARSA activity in a patient with metachromatic leukodystrophy.
Lysosomal Storage Diseases
A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity.
Lysosomal Storage Diseases
A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme.
Lysosomal Storage Diseases
A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).
Lysosomal Storage Diseases
Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.
Lysosomal Storage Diseases
Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case.
Lysosomal Storage Diseases
An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A.
Lysosomal Storage Diseases
Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics.
Lysosomal Storage Diseases
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Lysosomal Storage Diseases
Anti-inflammatory Therapy With Simvastatin Improves Neuroinflammation and CNS Function in a Mouse Model of Metachromatic Leukodystrophy.
Lysosomal Storage Diseases
ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs.
Lysosomal Storage Diseases
Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses.
Lysosomal Storage Diseases
Arylsulfatase A bound to poly(butyl cyanoacrylate) nanoparticles for enzyme replacement therapy--physicochemical evaluation.
Lysosomal Storage Diseases
Arylsulfatase B activity in cultured retinal pigment epithelium: regional studies in feline mucopolysaccharidosis VI.
Lysosomal Storage Diseases
Arylsulfatase B regulates interaction of chondroitin-4-sulfate and kininogen in renal epithelial cells.
Lysosomal Storage Diseases
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).
Lysosomal Storage Diseases
Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations.
Lysosomal Storage Diseases
Bone changes in mucopolysaccharidosis VI in cats and the effects of bone marrow transplantation: mechanical testing of long bones.
Lysosomal Storage Diseases
Bone marrow stem cell gene therapy of arylsulfatase A-deficient mice, using an arylsulfatase A mutant that is hypersecreted from retrovirally transduced donor-type cells.
Lysosomal Storage Diseases
Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: effects on visceral and nervous system disease manifestations.
Lysosomal Storage Diseases
Cardiac and ocular pathologies in a mouse model of mucopolysaccharidosis type VI.
Lysosomal Storage Diseases
Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy.
Lysosomal Storage Diseases
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.
Lysosomal Storage Diseases
Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.
Lysosomal Storage Diseases
Decline in brainstem auditory-evoked potentials coincides with loss of spiral ganglion cells in arylsulfatase A-deficient mice.
Lysosomal Storage Diseases
Deletion of fatty acid amide hydrolase reduces lyso-sulfatide levels but exacerbates metachromatic leukodystrophy in mice.
Lysosomal Storage Diseases
Efficacy of enzyme replacement therapy in an aggravated mouse model of metachromatic leukodystrophy declines with age.
Lysosomal Storage Diseases
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
Lysosomal Storage Diseases
Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy.
Lysosomal Storage Diseases
Enzyme replacement in the CSF to treat metachromatic leukodystrophy in mouse model using single intracerebroventricular injection of self-complementary AAV1 vector.
Lysosomal Storage Diseases
Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.
Lysosomal Storage Diseases
Gene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8.
Lysosomal Storage Diseases
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy.
Lysosomal Storage Diseases
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil.
Lysosomal Storage Diseases
Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).
Lysosomal Storage Diseases
Illness perception and clinical treatment experiences in patients with M. Maroteaux-Lamy (mucopolysaccharidosis type VI) and a Turkish migration background in Germany.
Lysosomal Storage Diseases
Increased concentration of the CSF Tau protein and its phosphorylated form in the late juvenile metachromatic leukodystrophy form: a case report.
Lysosomal Storage Diseases
Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers.
Lysosomal Storage Diseases
Intracerebral gene therapy using AAVrh.10-hARSA recombinant vector to treat patients with early-onset forms of metachromatic leukodystrophy: preclinical feasibility and safety assessments in non-human primates.
Lysosomal Storage Diseases
Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study.
Lysosomal Storage Diseases
Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele.
Lysosomal Storage Diseases
Lentivector integration sites in ependymal cells from a model of metachromatic leukodystrophy: non-B DNA as a new factor influencing integration.
Lysosomal Storage Diseases
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
Lysosomal Storage Diseases
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.
Lysosomal Storage Diseases
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
Lysosomal Storage Diseases
Measurement of recombinant human arylsulfatase A and leukocyte sulfatase activities by analytical isotachophoresis.
Lysosomal Storage Diseases
Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene.
Lysosomal Storage Diseases
Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.
Lysosomal Storage Diseases
Metachromatic leukodystrophy: Biochemical characterization of two (p.307Glu?Lys, p.318Trp?Cys) arylsulfatase A mutations.
Lysosomal Storage Diseases
Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options.
Lysosomal Storage Diseases
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.
Lysosomal Storage Diseases
Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
Lysosomal Storage Diseases
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).
Lysosomal Storage Diseases
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.
Lysosomal Storage Diseases
Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation.
Lysosomal Storage Diseases
Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs.
Lysosomal Storage Diseases
Neuromotor alterations and cerebellar deficits in aged arylsulfatase A-deficient transgenic mice.
Lysosomal Storage Diseases
Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI.
Lysosomal Storage Diseases
Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.
Lysosomal Storage Diseases
Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.
Lysosomal Storage Diseases
Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer.
Lysosomal Storage Diseases
Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy.
Lysosomal Storage Diseases
Pathology of the Gallbladder in a Child with Metachromatic Leukodystrophy.
Lysosomal Storage Diseases
Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe-affected non-human primates by intracerebral lentiviral gene therapy.
Lysosomal Storage Diseases
Pharmacokinetic Modeling of Intrathecally Administered Recombinant Human Arylsulfatase A (TAK-611) in Children With Metachromatic Leukodystrophy.
Lysosomal Storage Diseases
Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease.
Lysosomal Storage Diseases
Restoration of arylsulphatase A activity in human-metachromatic-leucodystrophy fibroblasts via retroviral-vector-mediated gene transfer.
Lysosomal Storage Diseases
Restoration of arylsulphatase B activity in human mucopolysaccharidosis-type-VI fibroblasts by retroviral-vector-mediated gene transfer.
Lysosomal Storage Diseases
Retrovirally expressed human arylsulfatase A corrects the metabolic defect of arylsulfatase A-deficient mouse cells.
Lysosomal Storage Diseases
Safety of Direct Intraparenchymal AAVrh.10-Mediated Central Nervous System Gene Therapy for Metachromatic Leukodystrophy.
Lysosomal Storage Diseases
Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages.
Lysosomal Storage Diseases
Site specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines.
Lysosomal Storage Diseases
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.
Lysosomal Storage Diseases
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.
Lysosomal Storage Diseases
Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI.
Lysosomal Storage Diseases
The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
Lysosomal Storage Diseases
The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes.
Lysosomal Storage Diseases
Transduced fibroblasts and metachromatic leukodystrophy lymphocytes transfer arylsulfatase A to myelinating glia and deficient cells in vitro.
Lysosomal Storage Diseases
Transduction of fibroblasts and CD34+ progenitors using a selectable retroviral vector containing cDNAs encoding arylsulfatase A and CD24.
Lysosomal Storage Diseases
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].
Lysosomal Storage Diseases
[Metachromatic leucodystrophy. Clinical, biological, and therapeutic aspects]
Lysosomal Storage Diseases
[Mucopolysaccharidosis type VI: clinical aspects, diagnosis and treatment with enzyme replacement therapy].
Malabsorption Syndromes
[Activity of arylsulfatase and beta-glucuronidase in small intestine mucosa in children with malabsorption syndromes]
Malnutrition
Urinary excretion of arylsulfatases in malnourished/vitamin A deficient children.
Mannosidase Deficiency Diseases
Modified granulocyte test for determination of mannosidosis genotype of cattle.
Melanoma
Effect of trypan blue on the activity of lysosomal enzymes, tumor growth and cell ultrastructure in B16 melanotic melanoma in mice.
Melanoma
Human sulfatase 1 exerts anti-tumor activity by inhibiting the AKT/ CDK4 signaling pathway in melanoma.
Melanoma
[Arylsulfatase activity in the blood of men with malignat melanoma. Preliminary reports].
Melanoma, Amelanotic
Activity of some lysosomal hydrolases in the homogenates of transplantable melanotic and amelanotic melanoma in golden hamster (Mesocricetus auratus, Waterhouse).
Melanoma, Amelanotic
[Activity of arylsulphatase in transplantable melanotic and amelanotic melanoma in golden hamsters]
Meningioma
Gene dosage effect in cells with monosomy of chromosome 22 derived from human meningiomas.
Metabolic Diseases
Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy.
Metabolic Diseases
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.
Metabolic Diseases
Leukocyte arylsulfatase A activity in patients with alcohol-related cirrhosis.
Metabolic Diseases
Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.
Metabolic Diseases
Successful transduction of oligodendrocytes and restoration of arylsulfatase A deficiency in metachromatic leukodystrophy fibroblasts using an adenovirus vector.
Metabolism, Inborn Errors
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Metabolism, Inborn Errors
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism.
Mitochondrial Diseases
Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations.
Mucolipidoses
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
Mucolipidoses
I-cell disease: intracellular desialylation of lysosomal enzymes using an influenza virus vector.
Mucolipidoses
Impaired phosphorylation of lysosomal enzymes in fibroblasts of patients with mucolipidosis III.
Mucolipidoses
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
Mucopolysaccharidoses
A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis.
Mucopolysaccharidoses
A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity.
Mucopolysaccharidoses
A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).
Mucopolysaccharidoses
A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings.
Mucopolysaccharidoses
A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients.
Mucopolysaccharidoses
A screening method for mucopolysaccharidoses with increased urinary excretion of sulfated N-acetylhexosamines.
Mucopolysaccharidoses
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
Mucopolysaccharidoses
Abnormal arylsulphatase activities of fibroblasts cultured from patients with mucopolysaccharidosis and cystinosis.
Mucopolysaccharidoses
Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1.
Mucopolysaccharidoses
Allo-immune membranous nephropathy and recombinant aryl sulfatase replacement therapy: a need for tolerance induction therapy.
Mucopolysaccharidoses
Alpha-l-iduronidase and arylsulfatase B in dried blood spots on filter paper: Biochemical parameters and time stability.
Mucopolysaccharidoses
An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum.
Mucopolysaccharidoses
Animal model of human disease: Mucopolysaccharidosis VI Maroteaux-Lamy syndrome, Arylsulfatase B-deficient mucopolysaccharidosis in the Siamese cat.
Mucopolysaccharidoses
ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs.
Mucopolysaccharidoses
Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses.
Mucopolysaccharidoses
Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy.
Mucopolysaccharidoses
Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice.
Mucopolysaccharidoses
Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate.
Mucopolysaccharidoses
Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays.
Mucopolysaccharidoses
Arylsulphatases A and B in human diploid fibroblasts: differential assay with 4-methylumbelliferylsulphate and AgNO3.
Mucopolysaccharidoses
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).
Mucopolysaccharidoses
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.
Mucopolysaccharidoses
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.
Mucopolysaccharidoses
Bioinformatic Analysis of the Human Recombinant Iduronate 2-Sulfate Sulfatase.
Mucopolysaccharidoses
Biosynthesis and maturation of arylsulfatase B in normal and mutant cultured human fibroblasts.
Mucopolysaccharidoses
Bone marrow transplantation in newborn rats with mucopolysaccharidosis type VI: biochemical, pathological, and clinical findings.
Mucopolysaccharidoses
Cardiac and ocular pathologies in a mouse model of mucopolysaccharidosis type VI.
Mucopolysaccharidoses
Case of a Mongolian child with extensive Mongolian spots in mucopolysaccharidosis type VI: Identification of a novel mutation in the arylsulfatase B gene.
Mucopolysaccharidoses
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
Mucopolysaccharidoses
Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report.
Mucopolysaccharidoses
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI.
Mucopolysaccharidoses
Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.
Mucopolysaccharidoses
Degeneration of Photoreceptor Cells in Arylsulfatase G-Deficient Mice.
Mucopolysaccharidoses
Detection of the Sanfilippo D syndrome by the use of a radiolabeled monosaccharide sulfate as the substrate for the estimation of N-acetylglucosamine-6-sulfate sulfatase.
Mucopolysaccharidoses
Determination of monosaccharides and disaccharides in mucopolysaccharidoses patients by electrospray ionisation mass spectrometry.
Mucopolysaccharidoses
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
Mucopolysaccharidoses
Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots.
Mucopolysaccharidoses
Dextran Microparticulate Inhalable Dry Powder for the Treatment of Cystic Fibrosis and Mucopolysaccharidosis.
Mucopolysaccharidoses
Diagnosis of Maroteaux-Lamy syndrome by the use of radiolabelled oligosaccharides as substrates for the determination of arylsulphatase B activity.
Mucopolysaccharidoses
Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis.
Mucopolysaccharidoses
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.
Mucopolysaccharidoses
Enhancing the Therapeutic Potential of Sulfamidase for the Treatment of Mucopolysaccharidosis IIIA.
Mucopolysaccharidoses
Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.
Mucopolysaccharidoses
Enzyme replacement therapy in mice lacking arylsulfatase B targets bone remodeling cells, but not chondrocytes.
Mucopolysaccharidoses
Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes.
Mucopolysaccharidoses
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Mucopolysaccharidoses
Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report.
Mucopolysaccharidoses
Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI.
Mucopolysaccharidoses
Galsulfase: arylsulfatase B, BM 102, recombinant human arylsulfatase B, recombinant human N-acetylgalactosamine-4-sulfatase, rhASB.
Mucopolysaccharidoses
Gene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8.
Mucopolysaccharidoses
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil.
Mucopolysaccharidoses
Human N-acetylgalactosamine-4-sulphatase: protein maturation and isolation of genomic clones.
Mucopolysaccharidoses
Hydrocephalus in mucopolysaccharidosis Type VI successfully treated with endoscopic third ventriculostomy.
Mucopolysaccharidoses
Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity.
Mucopolysaccharidoses
Identification of a novel mutation in the ARSB gene that is frequent among Brazilian MPSVI patients.
Mucopolysaccharidoses
Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI.
Mucopolysaccharidoses
Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI.
Mucopolysaccharidoses
Improving arylsulfatase activity determination in dried blood spots: Screening and diagnostic approaches for Maroteaux-Lamy syndrome (MPS VI).
Mucopolysaccharidoses
Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B.
Mucopolysaccharidoses
Lacritin and other autophagy associated proteins in ocular surface health.
Mucopolysaccharidoses
Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient.
Mucopolysaccharidoses
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.
Mucopolysaccharidoses
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
Mucopolysaccharidoses
Low-scale expression and purification of an active putative iduronate 2-sulfate sulfatase-Like enzyme from Escherichia coli K12.
Mucopolysaccharidoses
Maroteaux-Lamy syndrome: orofacial features after treatment by bone marrow transplant.
Mucopolysaccharidoses
Metachromatic leukodystrophy. Ultrastructural and enzymatic study of a case of variant O form.
Mucopolysaccharidoses
Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.
Mucopolysaccharidoses
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Mucopolysaccharidoses
Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.
Mucopolysaccharidoses
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).
Mucopolysaccharidoses
Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome.
Mucopolysaccharidoses
Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by adeletion in the arylsulphatase B gene.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.
Mucopolysaccharidoses
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) with hearing impairment and pupillary membrane remnants.
Mucopolysaccharidoses
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
Mucopolysaccharidoses
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Mucopolysaccharidoses
N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.
Mucopolysaccharidoses
N-acetylglucosamine 6-sulfate residues in keratan sulfate and heparan sulfate are desulfated by the same enzyme.
Mucopolysaccharidoses
N-acetylglucosamine-6-sulfate sulfatase in man: deficiency of the enzyme in a new mucopolysaccharidosis.
Mucopolysaccharidoses
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Mucopolysaccharidoses
Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).
Mucopolysaccharidoses
Neonatal Gene Therapy With a Gamma Retroviral Vector in Mucopolysaccharidosis VI Cats.
Mucopolysaccharidoses
New insights in mucopolysaccharidosis type VI: Neurological perspective.
Mucopolysaccharidoses
Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI.
Mucopolysaccharidoses
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
Mucopolysaccharidoses
Pathologic findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies.
Mucopolysaccharidoses
Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI.
Mucopolysaccharidoses
Scalable inoculation strategies for microcarrier-based animal cell bioprocesses.
Mucopolysaccharidoses
Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings.
Mucopolysaccharidoses
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.
Mucopolysaccharidoses
Successful management of difficult infusion-associated reactions in a young patient with mucopolysaccharidosis type VI receiving recombinant human arylsulfatase B (galsulfase [Naglazyme]).
Mucopolysaccharidoses
The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
Mucopolysaccharidoses
The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover.
Mucopolysaccharidoses
Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutations in brief no. 127. Online.
Mucopolysaccharidoses
Unusual clinical presentation in two cases of multiple sulfatase deficiency.
Mucopolysaccharidoses
Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy.
Mucopolysaccharidoses
[A novel nonsense point mutation in the arylsulfatase B gene with a severe type Maroteaux-Lamy syndrome]
Mucopolysaccharidoses
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].
Mucopolysaccharidoses
[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]
Mucopolysaccharidosis I
Mosaicism for sulfoiduronate sulfatase deficiency in carriers of Hunter's syndrome.
Mucopolysaccharidosis I
Report of a mucopolysaccharidosis occurring in Australian aborigines.
Mucopolysaccharidosis II
A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings.
Mucopolysaccharidosis II
Bioinformatic Analysis of the Human Recombinant Iduronate 2-Sulfate Sulfatase.
Mucopolysaccharidosis II
Changes in glycogen and glycosaminoglycan levels in hepatocytes of iduronate-2-sulfatase knockout mice before and after recombinant iduronate-2-sulfatase supplementation.
Mucopolysaccharidosis II
Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.
Mucopolysaccharidosis II
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.
Mucopolysaccharidosis II
Low-scale expression and purification of an active putative iduronate 2-sulfate sulfatase-Like enzyme from Escherichia coli K12.
Mucopolysaccharidosis II
Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation.
Mucopolysaccharidosis II
Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.
Mucopolysaccharidosis II
Mosaicism for sulfoiduronate sulfatase deficiency in carriers of Hunter's syndrome.
Mucopolysaccharidosis II
Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations.
Mucopolysaccharidosis II
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase.
Mucopolysaccharidosis II
[Computational prediction of the tertiary structure of the human iduronate 2-sulfate sulfatase]
Mucopolysaccharidosis III
A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant.
Mucopolysaccharidosis III
A screening method for mucopolysaccharidoses with increased urinary excretion of sulfated N-acetylhexosamines.
Mucopolysaccharidosis III
Detection of the Sanfilippo D syndrome by the use of a radiolabeled monosaccharide sulfate as the substrate for the estimation of N-acetylglucosamine-6-sulfate sulfatase.
Mucopolysaccharidosis III
Enhancing the Therapeutic Potential of Sulfamidase for the Treatment of Mucopolysaccharidosis IIIA.
Mucopolysaccharidosis III
Isolation and characterization of N-acetylglucosamine 6-sulfate from the urine of a patient with Sanfilippo type D syndrome and its occurrence in normal urine.
Mucopolysaccharidosis III
Metachromatic leukodystrophy. Ultrastructural and enzymatic study of a case of variant O form.
Mucopolysaccharidosis III
N-acetylglucosamine 6-sulfate residues in keratan sulfate and heparan sulfate are desulfated by the same enzyme.
Mucopolysaccharidosis III
Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy.
Mucopolysaccharidosis IV
A screening method for mucopolysaccharidoses with increased urinary excretion of sulfated N-acetylhexosamines.
Mucopolysaccharidosis IV
A sensitive procedure for the diagnosis of N-acetyl-galactosamine-6-sulfate sulfatase deficiency in classical Morquio's disease.
Mucopolysaccharidosis IV
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.
Mucopolysaccharidosis IV
Early neurosurgical intervention in spondyloepiphyseal dysplasias.
Mucopolysaccharidosis IV
Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes.
Mucopolysaccharidosis IV
Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
Mucopolysaccharidosis IV
Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase.
Mucopolysaccharidosis IV
Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
Mucopolysaccharidosis IV
Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.
Mucopolysaccharidosis IV
Muscle Weakness: A Misleading Presentation in Children With Distinctive Syndromic Entities (Clinical Case Reports).
Mucopolysaccharidosis IV
Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).
Mucopolysaccharidosis IV
Partial deficiency of glycoprotein neuraminidase in some patients with Morquio disease type A.
Mucopolysaccharidosis IV
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.
Mucopolysaccharidosis VI
A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis.
Mucopolysaccharidosis VI
A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity.
Mucopolysaccharidosis VI
A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI.
Mucopolysaccharidosis VI
A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients.
Mucopolysaccharidosis VI
A screening method for mucopolysaccharidoses with increased urinary excretion of sulfated N-acetylhexosamines.
Mucopolysaccharidosis VI
Allo-immune membranous nephropathy and recombinant aryl sulfatase replacement therapy: a need for tolerance induction therapy.
Mucopolysaccharidosis VI
An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum.
Mucopolysaccharidosis VI
An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype.
Mucopolysaccharidosis VI
Animal model of human disease: Mucopolysaccharidosis VI Maroteaux-Lamy syndrome, Arylsulfatase B-deficient mucopolysaccharidosis in the Siamese cat.
Mucopolysaccharidosis VI
Animal model studies of allelism: characterization of arylsulfatase B mutations in homoallelic and heteroallelic (genetic compound) homozygotes with feline mucopolysaccharidosis VI.
Mucopolysaccharidosis VI
Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy.
Mucopolysaccharidosis VI
Arylsulfatase B activity in cultured retinal pigment epithelium: regional studies in feline mucopolysaccharidosis VI.
Mucopolysaccharidosis VI
Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts.
Mucopolysaccharidosis VI
Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification.
Mucopolysaccharidosis VI
Arylsulfatase B regulates interaction of chondroitin-4-sulfate and kininogen in renal epithelial cells.
Mucopolysaccharidosis VI
Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays.
Mucopolysaccharidosis VI
Arylsulfatases A and B in metachromatic leukodystrophy and Maroteaux-Lamy syndrome: studies with 4-methylumelliferyl sulfate.
Mucopolysaccharidosis VI
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.
Mucopolysaccharidosis VI
Biochemical, pathological, and skeletal improvement of mucopolysaccharidosis VI after gene transfer to liver but not to muscle.
Mucopolysaccharidosis VI
Biosynthesis and maturation of arylsulfatase B in normal and mutant cultured human fibroblasts.
Mucopolysaccharidosis VI
Bone changes in mucopolysaccharidosis VI in cats and the effects of bone marrow transplantation: mechanical testing of long bones.
Mucopolysaccharidosis VI
Bone marrow transplantation in newborn rats with mucopolysaccharidosis type VI: biochemical, pathological, and clinical findings.
Mucopolysaccharidosis VI
Bone marrow transplantation in the feline model of arylsulfatase B deficiency.
Mucopolysaccharidosis VI
Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation.
Mucopolysaccharidosis VI
Cardiac and ocular pathologies in a mouse model of mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
Case of a Mongolian child with extensive Mongolian spots in mucopolysaccharidosis type VI: Identification of a novel mutation in the arylsulfatase B gene.
Mucopolysaccharidosis VI
Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: systematic review.
Mucopolysaccharidosis VI
Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: Systematic review.
Mucopolysaccharidosis VI
Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report.
Mucopolysaccharidosis VI
Correction of feline arylsulphatase B deficiency (mucopolysaccharidosis VI) by bone marrow transplantation.
Mucopolysaccharidosis VI
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome.
Mucopolysaccharidosis VI
Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots.
Mucopolysaccharidosis VI
Development of nanoparticle-bound arylsulfatase B for enzyme replacement therapy of mucopolysaccharidosis VI.
Mucopolysaccharidosis VI
Diagnosis of Maroteaux-Lamy syndrome by the use of radiolabelled oligosaccharides as substrates for the determination of arylsulphatase B activity.
Mucopolysaccharidosis VI
Enhancement of residual arylsulfatase B activity in feline mucopolysaccharidosis VI by thiol-induced subunit association.
Mucopolysaccharidosis VI
Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.
Mucopolysaccharidosis VI
Enzyme replacement therapy in mice lacking arylsulfatase B targets bone remodeling cells, but not chondrocytes.
Mucopolysaccharidosis VI
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis VI: clinical facts and figures.
Mucopolysaccharidosis VI
Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report.
Mucopolysaccharidosis VI
Feline mucopolysaccharidosis VI: General ocular and pigment epithelial pathology.
Mucopolysaccharidosis VI
Feline mucopolysaccharidosis VI: purification and characterization of the resident arylsulfatase B activity.
Mucopolysaccharidosis VI
Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Mucopolysaccharidosis VI
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).
Mucopolysaccharidosis VI
Gene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8.
Mucopolysaccharidosis VI
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil.
Mucopolysaccharidosis VI
Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome.
Mucopolysaccharidosis VI
Human N-acetylgalactosamine-4-sulphatase: protein maturation and isolation of genomic clones.
Mucopolysaccharidosis VI
Hydrocephalus in mucopolysaccharidosis Type VI successfully treated with endoscopic third ventriculostomy.
Mucopolysaccharidosis VI
Identification of a novel mutation in the ARSB gene that is frequent among Brazilian MPSVI patients.
Mucopolysaccharidosis VI
Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI.
Mucopolysaccharidosis VI
Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.
Mucopolysaccharidosis VI
Illness perception and clinical treatment experiences in patients with M. Maroteaux-Lamy (mucopolysaccharidosis type VI) and a Turkish migration background in Germany.
Mucopolysaccharidosis VI
Improving arylsulfatase activity determination in dried blood spots: Screening and diagnostic approaches for Maroteaux-Lamy syndrome (MPS VI).
Mucopolysaccharidosis VI
Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?
Mucopolysaccharidosis VI
Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B.
Mucopolysaccharidosis VI
Lacritin and other autophagy associated proteins in ocular surface health.
Mucopolysaccharidosis VI
Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient.
Mucopolysaccharidosis VI
Long-term amelioration of feline Mucopolysaccharidosis VI after AAV-mediated liver gene transfer.
Mucopolysaccharidosis VI
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
Mucopolysaccharidosis VI
Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene.
Mucopolysaccharidosis VI
Maroteaux-Lamy syndrome: orofacial features after treatment by bone marrow transplant.
Mucopolysaccharidosis VI
Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.
Mucopolysaccharidosis VI
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).
Mucopolysaccharidosis VI
Mucopolysaccharide storage disease in three families of cats with arylsulfatase B deficiency: leukocyte studies and carrier identification.
Mucopolysaccharidosis VI
Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by adeletion in the arylsulphatase B gene.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.
Mucopolysaccharidosis VI
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) with hearing impairment and pupillary membrane remnants.
Mucopolysaccharidosis VI
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.
Mucopolysaccharidosis VI
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
Mucopolysaccharidosis VI
Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.
Mucopolysaccharidosis VI
Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients.
Mucopolysaccharidosis VI
N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
New insights in mucopolysaccharidosis type VI: Neurological perspective.
Mucopolysaccharidosis VI
Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI.
Mucopolysaccharidosis VI
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
Oral and systemic manifestations of mucopolysaccharidosis type VI: a report of seven cases.
Mucopolysaccharidosis VI
Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI.
Mucopolysaccharidosis VI
Prevalence of anti-AAV8 neutralizing antibodies and ARSB cross-reactive immunologic material in MPS VI patients candidates for a gene therapy trial.
Mucopolysaccharidosis VI
Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndrome.
Mucopolysaccharidosis VI
Rapid method for measuring arylsulfatase A and B in leucocytes as a diagnosis for sulfatidosis, mucosulfatidosis and mucopolysaccharidosis VI.
Mucopolysaccharidosis VI
Recent Advances in Treatment Approaches of Mucopolysaccharidosis VI.
Mucopolysaccharidosis VI
Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome.
Mucopolysaccharidosis VI
Restoration of arylsulphatase B activity in human mucopolysaccharidosis-type-VI fibroblasts by retroviral-vector-mediated gene transfer.
Mucopolysaccharidosis VI
Restriction of Aerobic Metabolism by Acquired or Innate Arylsulfatase B Deficiency: A New Approach to the Warburg Effect.
Mucopolysaccharidosis VI
Scalable inoculation strategies for microcarrier-based animal cell bioprocesses.
Mucopolysaccharidosis VI
Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.
Mucopolysaccharidosis VI
Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings.
Mucopolysaccharidosis VI
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.
Mucopolysaccharidosis VI
Successful management of difficult infusion-associated reactions in a young patient with mucopolysaccharidosis type VI receiving recombinant human arylsulfatase B (galsulfase [Naglazyme]).
Mucopolysaccharidosis VI
Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome).
Mucopolysaccharidosis VI
Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI.
Mucopolysaccharidosis VI
The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
Mucopolysaccharidosis VI
The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover.
Mucopolysaccharidosis VI
The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): a case report.
Mucopolysaccharidosis VI
Therapy for mucopolysaccharidosis VI: (Maroteaux-Lamy syndrome) present status and prospects.
Mucopolysaccharidosis VI
Uridine diphospho-N-acetylgalactosamine-4-sulfate sulfohydrolase activity of human arylsulfatase B and its deficiency in the Maroteaux-Lamy syndrome.
Mucopolysaccharidosis VI
[A novel nonsense point mutation in the arylsulfatase B gene with a severe type Maroteaux-Lamy syndrome]
Mucopolysaccharidosis VI
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].
Mucopolysaccharidosis VI
[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]
Mucopolysaccharidosis VI
[Mucopolysaccharidosis type VI: clinical aspects, diagnosis and treatment with enzyme replacement therapy].
Mucopolysaccharidosis VI
[The early diagnosis of Maroteaux-Lamy syndrome with confirmation of arylsulphatase deficiency]
Multiple Sclerosis
Arylsulfatase a gene polymorphisms in relapsing remitting multiple sclerosis: genotype-phenotype correlation and estimation of disease progression.
Multiple Sclerosis
Brain galactolipid content in a patient with pseudoarylsulfatase A deficiency and coincidental diffuse disseminated sclerosis, and in patients with metachromatic, adreno-, and other leukodystrophies.
Multiple Sclerosis
Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis.
Multiple Sclerosis, Relapsing-Remitting
Arylsulfatase a gene polymorphisms in relapsing remitting multiple sclerosis: genotype-phenotype correlation and estimation of disease progression.
Multiple Sulfatase Deficiency Disease
A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme.
Multiple Sulfatase Deficiency Disease
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
A major step on the road to understanding a unique posttranslational modification and its role in a genetic disease.
Multiple Sulfatase Deficiency Disease
A newly recognized cause of low urinary estriol in pregnancy: multiple sulfatase deficiency of the fetus.
Multiple Sulfatase Deficiency Disease
A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder.
Multiple Sulfatase Deficiency Disease
A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
A novel protein modification generating an aldehyde group in sulfatases: its role in catalysis and disease.
Multiple Sulfatase Deficiency Disease
A Patient With Atypical Multiple Sulfatase Deficiency.
Multiple Sulfatase Deficiency Disease
A screening method for mucopolysaccharidoses with increased urinary excretion of sulfated N-acetylhexosamines.
Multiple Sulfatase Deficiency Disease
A systematic cross-sectional survey of multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Acid mucopolysaccharide (AMPS) abnormality in multiple sulfatase deficiency: chemical compositions of AMPS in urine and liver.
Multiple Sulfatase Deficiency Disease
Activities of sulfatases for the degradation of acidic glycosaminoglycans in cultured skin fibroblasts from two siblings with multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays.
Multiple Sulfatase Deficiency Disease
Arysulfatase A modulation with pH in multiple sulfatase deficiency disorder fibroblasts.
Multiple Sulfatase Deficiency Disease
Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder.
Multiple Sulfatase Deficiency Disease
Autophagy in astrocytes: a novel culprit in lysosomal storage disorders.
Multiple Sulfatase Deficiency Disease
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
Multiple Sulfatase Deficiency Disease
Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients.
Multiple Sulfatase Deficiency Disease
Cervical cord compression and severe hydrocephalus in a child with Saudi variant of multiple sulfatase deficiency. Report of case.
Multiple Sulfatase Deficiency Disease
Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.
Multiple Sulfatase Deficiency Disease
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.
Multiple Sulfatase Deficiency Disease
Complementation of multiple sulfatase deficiency in somatic cell hybrids.
Multiple Sulfatase Deficiency Disease
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Multiple Sulfatase Deficiency Disease
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.
Multiple Sulfatase Deficiency Disease
Conversion of cysteine to formylglycine: a protein modification in the endoplasmic reticulum.
Multiple Sulfatase Deficiency Disease
Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis.
Multiple Sulfatase Deficiency Disease
De novo calcium/sulfur SAD phasing of the human formylglycine-generating enzyme using in-house data.
Multiple Sulfatase Deficiency Disease
Determination of monosaccharides and disaccharides in mucopolysaccharidoses patients by electrospray ionisation mass spectrometry.
Multiple Sulfatase Deficiency Disease
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
Multiple Sulfatase Deficiency Disease
Development and maturation of invariant NKT cells in the presence of lysosomal engulfment.
Multiple Sulfatase Deficiency Disease
Difficulty in recognizing multiple sulfatase deficiency in an infant.
Multiple Sulfatase Deficiency Disease
Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders.
Multiple Sulfatase Deficiency Disease
Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy.
Multiple Sulfatase Deficiency Disease
Early manifestations of multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Early neurosurgical intervention in spondyloepiphyseal dysplasias.
Multiple Sulfatase Deficiency Disease
Efficacy of a Combined Intracerebral and Systemic Gene Delivery Approach for the Treatment of a Severe Lysosomal Storage Disorder.
Multiple Sulfatase Deficiency Disease
Enhanced breakdown of arylsulfatase A in multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.
Multiple Sulfatase Deficiency Disease
Expert recommendations for the laboratory diagnosis of MPS VI.
Multiple Sulfatase Deficiency Disease
Expression, localization, structural, and functional characterization of pFGE, the paralog of the Calpha-formylglycine-generating enzyme.
Multiple Sulfatase Deficiency Disease
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting.
Multiple Sulfatase Deficiency Disease
Genetic complementation studies of multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
How Does Nature Cleave Sulfuric Acid Esters? A Novel Posttranslational Modification of Sulfatases.
Multiple Sulfatase Deficiency Disease
Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Ichthyosis: the skin manifestation of multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases.
Multiple Sulfatase Deficiency Disease
Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?
Multiple Sulfatase Deficiency Disease
Late infantile form of multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.
Multiple Sulfatase Deficiency Disease
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.
Multiple Sulfatase Deficiency Disease
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
Multiple Sulfatase Deficiency Disease
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.
Multiple Sulfatase Deficiency Disease
Measurement of recombinant human arylsulfatase A and leukocyte sulfatase activities by analytical isotachophoresis.
Multiple Sulfatase Deficiency Disease
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.
Multiple Sulfatase Deficiency Disease
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
Multiple Sulfatase Deficiency Disease
Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis.
Multiple Sulfatase Deficiency Disease
Multiple sulfatase deficiencies in cultured skin fibroblasts. Occurrence in patients with a variant form of metachromatic leukodystrophy.
Multiple Sulfatase Deficiency Disease
Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma.
Multiple Sulfatase Deficiency Disease
Multiple sulfatase deficiency (mucosulfatidosis): impaired degradation of labeled sulfated compounds in cultured skin fibroblasts in vivo.
Multiple Sulfatase Deficiency Disease
Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation.
Multiple Sulfatase Deficiency Disease
Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.
Multiple Sulfatase Deficiency Disease
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.
Multiple Sulfatase Deficiency Disease
Multiple sulfatase deficiency with a novel biochemical presentation.
Multiple Sulfatase Deficiency Disease
Multiple sulfatase deficiency with early severe retinal degeneration.
Multiple Sulfatase Deficiency Disease
Multiple sulfatase deficiency with neonatal manifestation.
Multiple Sulfatase Deficiency Disease
Multiple sulfatase deficiency: A case series of four children.
Multiple Sulfatase Deficiency Disease
Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.
Multiple Sulfatase Deficiency Disease
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Multiple Sulfatase Deficiency Disease
Multiple sulfatase deficiency: bridge between neuronal storage diseases and leukodystrophies.
Multiple Sulfatase Deficiency Disease
Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs.
Multiple Sulfatase Deficiency Disease
Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient.
Multiple Sulfatase Deficiency Disease
Multiple sulfatase deficiency: clinical, neuropathological, ultrastructural and biochemical studies.
Multiple Sulfatase Deficiency Disease
Multiple sulfatase deficiency: degradation of arylsulfatase A and B after endocytosis in fibroblasts.
Multiple Sulfatase Deficiency Disease
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.
Multiple Sulfatase Deficiency Disease
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Multiple Sulfatase Deficiency Disease
Neonatal manifestation of multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
Multiple Sulfatase Deficiency Disease
Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy.
Multiple Sulfatase Deficiency Disease
Ocular findings in metachromatic leukodystrophy. An electron microscopic and enzyme study in different clinical and genetic variants.
Multiple Sulfatase Deficiency Disease
Pathologic findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies.
Multiple Sulfatase Deficiency Disease
Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B.
Multiple Sulfatase Deficiency Disease
Pitfalls in the diagnosis of multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Plasmatic and urinary glycosaminoglycan profile in a patient affected by multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts.
Multiple Sulfatase Deficiency Disease
Properties of sulfatases in cultured skin fibroblasts of multiple sulfatase deficient patients.
Multiple Sulfatase Deficiency Disease
Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant.
Multiple Sulfatase Deficiency Disease
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Rapid degradation of steroid sulfatase in multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Rapid method for measuring arylsulfatase A and B in leucocytes as a diagnosis for sulfatidosis, mucosulfatidosis and mucopolysaccharidosis VI.
Multiple Sulfatase Deficiency Disease
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.
Multiple Sulfatase Deficiency Disease
Screening patients referred to a metabolic clinic for lysosomal storage disorders.
Multiple Sulfatase Deficiency Disease
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Multiple Sulfatase Deficiency Disease
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism.
Multiple Sulfatase Deficiency Disease
Self-eating in skeletal development: implications for lysosomal storage disorders.
Multiple Sulfatase Deficiency Disease
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.
Multiple Sulfatase Deficiency Disease
Structural distortions due to missense mutations in human formylglycine-generating enzyme leading to multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum.
Multiple Sulfatase Deficiency Disease
Sulfatase modifying factor 1-mediated fibroblast growth factor signaling primes hematopoietic multilineage development.
Multiple Sulfatase Deficiency Disease
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.
Multiple Sulfatase Deficiency Disease
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Synthesis and maturation of cross-reactive glycoprotein in fibroblasts deficient in arylsulfatase A activity.
Multiple Sulfatase Deficiency Disease
Synthesis and stability of arylsulfatase A and B in fibroblasts from multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Synthesis and stability of steroid sulfatase in fibroblasts from multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?
Multiple Sulfatase Deficiency Disease
The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes.
Multiple Sulfatase Deficiency Disease
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.
Multiple Sulfatase Deficiency Disease
The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation.
Multiple Sulfatase Deficiency Disease
Thiosulfate-mediated increase of arylsulfatase activities in multiple sulfatase deficiency disorder fibroblasts.
Multiple Sulfatase Deficiency Disease
Unusual clinical presentation in two cases of multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Unusual early manifestation of multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Urinary acid mucopolysaccharides in multiple sulfatase deficiency (mucosulfatidosis).
Multiple Sulfatase Deficiency Disease
Various sulfatase activities in leukocytes and cultured skin fibroblasts from heterozygotes for the multiple sulfatase deficiency (mukosulfatidosis).
Multiple Sulfatase Deficiency Disease
View from inside: When multiple sulfatase deficiency changes everything about how you live and becomes your life.
Multiple Sulfatase Deficiency Disease
[A case of multiple sulfatase deficiency with fiber type disproportion]
Multiple Sulfatase Deficiency Disease
[A rare genetic disease: multiple sulfatase deficiency]
Multiple Sulfatase Deficiency Disease
[Cases of multiple sulfatase deficiency in sisters--biopsy findings of the sural nerve]
Multiple Sulfatase Deficiency Disease
[Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China].
Multiple Sulfatase Deficiency Disease
[Metachromatic leukodystrophy and multiple sulfatase deficiency]
Myeloproliferative Disorders
Gene dosage effect for beta-glucuronidase (GUSB) in monosomy 7 cells of patients with myeloproliferative disorders.
Myocardial Ischemia
[Dynamic changes in arylsulfatase activity in the initial period of acute focal myocardial ischemia in an experiment]
Myoclonic Epilepsies, Progressive
Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy.
Neoplasm Metastasis
Arylsulfatase B regulates colonic epithelial cell migration by effects on MMP9 expression and RhoA activation.
Neoplasm Metastasis
High expression of steroid sulfatase mRNA predicts poor prognosis in patients with estrogen receptor-positive breast cancer.
Neoplasm Metastasis
Quantitative analysis of aromatase, sulfatase and 17beta-HSD(1) mRNA expression in soft tissue metastases of breast cancer.
Neoplasm Metastasis
Single-nucleotide polymorphism in microRNA-binding site of SULF1 target gene as a protective factor against the susceptibility to breast cancer: a case-control study.
Neoplasm Metastasis
The human sulfatase 2 inhibitor 2,4-disulfonylphenyl-tert-butylnitrone (OKN-007) has an antitumor effect in hepatocellular carcinoma mediated via suppression of TGFB1/SMAD2 and Hedgehog/GLI1 signaling.
Neoplasm Metastasis
[Changes in arylsulphatase activity in blood serum in patients with breast cancer before and after treatment]
Neoplasms
A combined approach to data mining of textual and structured data to identify cancer-related targets.
Neoplasms
A sulfatase regulating the migratory potency of oligodendrocyte progenitor cells through tyrosine phosphorylation of beta-catenin.
Neoplasms
Activation of the transforming growth factor-?/SMAD transcriptional pathway underlies a novel tumor-promoting role of sulfatase 1 in hepatocellular carcinoma.
Neoplasms
Activity of some lysosomal enzymes in serum and in tumors of patients with squamous cell lung carcinoma.
Neoplasms
Activity of some lysosomal hydrolases in the homogenates of transplantable melanotic and amelanotic melanoma in golden hamster (Mesocricetus auratus, Waterhouse).
Neoplasms
Alterations of protein kinase isozymes in transplantable human lung cancer with special reference to the phosphorylation of arylsulfatase B.
Neoplasms
Arylsulfatase A activities in urine and tissues taken from bladder cancer patients.
Neoplasms
Arylsulfatase a from normal human lung and lung tumors showed different patterns of microheterogeneity.
Neoplasms
Arylsulfatases of human-lung tumors transplanted into athymic mice. Cancer-associated modification of arylsulfatase B variant.
Neoplasms
Circulating Estrogens in Endometrial Cancer Cases and Their Relationship with Tissular Expression of Key Estrogen Biosynthesis and Metabolic Pathways.
Neoplasms
Clinical significance of the estrogen-modifying enzymes steroid sulfatase and estrogen sulfotransferase in epithelial ovarian cancer.
Neoplasms
Colorimetric estimation of arylsulfatase: enzyme kinetics and distribution of the enzyme in seven mammals and in tumors.
Neoplasms
Comparison of estrogen concentrations, estrone sulfatase and aromatase activities in normal, and in cancerous, human breast tissues.
Neoplasms
Comparison of mouse and human colon tumors with regard to phase I and phase II drug-metabolizing enzyme systems.
Neoplasms
Cytogenetic analysis of epithelial ovarian cancer's stem cells: an overview on new diagnostic and therapeutic perspectives.
Neoplasms
Decline in arylsulfatase B expression increases EGFR expression by inhibiting the protein-tyrosine phosphatase SHP2 and activating JNK in prostate cells.
Neoplasms
Dehydroepiandrosterone concentration in breast cancer tissue is related to its plasma gradient across the mammary gland.
Neoplasms
Design, synthesis and biological evaluation of combretastatin A-4 sulfamate derivatives as potential anti-cancer agents.
Neoplasms
Differentiating malignant colorectal tumor patients from benign colorectal tumor patients by assaying morning urinary arylsulfatase activity.
Neoplasms
Dihydrotestosterone inhibits arylsulfatase B and Dickkopf Wnt signaling pathway inhibitor (DKK)-3 leading to enhanced Wnt signaling in prostate epithelium in response to stromal Wnt3A.
Neoplasms
Discovery and Development of the Aryl O-Sulfamate Pharmacophore for Oncology and Women's Health.
Neoplasms
Elevated activities and properties of arylsulfatases A and B and B-variant in human lung tumors.
Neoplasms
Estrone and dehydroepiandrosterone sulfatase activities and plasma estrone sulfate levels in human breast carcinoma.
Neoplasms
Estrone sulfate and sulfatase activity in human breast cancer and endometrial cancer.
Neoplasms
Evaluating Tumor-Associated Activity of Extracellular Sulfatase by Analyzing Naturally Occurring Substrate in Tumor Microenvironment of Hepatocellular Carcinoma.
Neoplasms
Evaluation of selected lichens from iceland for cancer chemopreventive and cytotoxic activity.
Neoplasms
Evidence of in situ estrogen synthesis in nitrosomethylurea-induced rat mammary tumors via the enzyme estrone sulfatase.
Neoplasms
Expression of 17beta-hydroxysteroid dehydrogenases and other estrogen-metabolizing enzymes in different cancer cell lines.
Neoplasms
Expression of arylsulfatase B variant from leukocytes in chronic myelogenous leukemia related to chemotherapy.
Neoplasms
Expression of GalCer sulfotransferase by human uterine endometrial carcinoma cell lines.
Neoplasms
Expression of sulfotransferases and sulfatases in human breast cancer: Impact on resveratrol metabolism.
Neoplasms
First crystal structures of human carbonic anhydrase II in complex with dual aromatase-steroid sulfatase inhibitors.
Neoplasms
Heparan sulfate sulfatase SULF2 regulates PDGFR? signaling and growth in human and mouse malignant glioma.
Neoplasms
High expression of steroid sulfatase mRNA predicts poor prognosis in patients with estrogen receptor-positive breast cancer.
Neoplasms
High-mannose-type oligosaccharides from human placental arylsulfatase A are core fucosylated as confirmed by MALDI MS.
Neoplasms
Human Sulfatase 2 inhibits in vivo tumor growth of MDA-MB-231 human breast cancer xenografts.
Neoplasms
Identification and characterization of arylsulfatase A and B of the rat basophil leukemia tumor.
Neoplasms
In situ estrogen production via the estrone sulfatase pathway in breast tumors: relative importance versus the aromatase pathway.
Neoplasms
In vivo Inhibition of the Estrogen Sulfatase Enzyme and Growth of DMBA-Induced Mammary Tumors by Melatonin.
Neoplasms
Increased estrogen sulfation of estradiol 17beta-D-glucuronide in metastatic tumor rat livers.
Neoplasms
Induction of Lysosome-associated Protein Transmembrane 4 Beta via Sulfatase 2 Enhances Autophagic Flux in Liver Cancer Cells.
Neoplasms
Involvement of up-regulation of 17beta-hydroxysteroid dehydrogenase type 1 in maintenance of intratumoral high estradiol levels in postmenopausal breast cancers.
Neoplasms
Isolation and comparison of arylsulfatase A from rat liver and Morris hepatoma 7777.
Neoplasms
Mitochondrial superoxide dismutase 2 mediates ?-irradiation-induced cancer cell invasion.
Neoplasms
New Protocol-Guided Exploitation of a Lysosomal Sulfatase Inhibitor to Suppress Cell Growth in Glioblastoma Multiforme.
Neoplasms
Phosphorylation of human lysosomal arylsulfatase B by cAMP-dependent protein kinase. Different sites of phosphorylation between normal and cancer tissues.
Neoplasms
Processing enzymes acting on carbohydrate moiety of lysosomal hydrolases in leukemic cells: elevated activity of N-acetylglucosamine-1-phosphotransferase.
Neoplasms
Protein phosphorylation of human lysosomal arylsulfatase B from normal and cancer tissues.
Neoplasms
Redox State and Lysosomal Activity in Women with Ovarian Cancer with Tumor Recurrence and Multiorgan Metastasis.
Neoplasms
Regulation of macrophage dehydroepiandrosterone sulfate metabolism by inflammatory cytokines.
Neoplasms
Restoration of epigenetically silenced SULF1 expression by 5-aza-2-deoxycytidine sensitizes hepatocellular carcinoma cells to chemotherapy-induced apoptosis.
Neoplasms
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Neoplasms
Sulfatase 1 and sulfatase 2 in hepatocellular carcinoma: associated signaling pathways, tumor phenotypes, and survival.
Neoplasms
Sulfatase 1 expression in pancreatic cancer and its correlation with clinicopathological features and postoperative prognosis.
Neoplasms
Sulfatase 2 up-regulates glypican 3, promotes fibroblast growth factor signaling, and decreases survival in hepatocellular carcinoma.
Neoplasms
Sulfate Metabolites Provide an Intracellular Pool for Resveratrol Generation and Induce Autophagy with Senescence.
Neoplasms
The human sulfatase 2 inhibitor 2,4-disulfonylphenyl-tert-butylnitrone (OKN-007) has an antitumor effect in hepatocellular carcinoma mediated via suppression of TGFB1/SMAD2 and Hedgehog/GLI1 signaling.
Neoplasms
The hydrolysis of estrone sulfate and dehydroepiandrosterone sulfate by MCF-7 human breast cancer cells.
Neoplasms
The sulfatase pathway for estrogen formation: targets for the treatment and diagnosis of hormone-associated tumors.
Neoplasms
Therapeutic use of tamoxifen in advanced breast cancer: correlation with biochemical parameters.
Neoplasms
Transcriptional Induction of Periostin by a Sulfatase 2-TGF?1-SMAD Signaling Axis Mediates Tumor Angiogenesis in Hepatocellular Carcinoma.
Neoplasms
Unraveling Heparan Sulfate Proteoglycan Binding Motif for Cancer Cell Selectivity.
Neoplasms
Virilizing adrenal tumor in a child suppressed with dexamethasone for three years. Effect of o,p'-DDD on serum and urinary androgens.
Neoplasms
[Arylsulfatase A--physico-chemical properties and the use of enzyme radioimmunoassay in medical diagnosis]
Neoplasms
[Arylsulfatase of peripheral blood leukocytes in patients with selected proliferative diseases of the hematopoietic system, malignant neoplasms in other organs and lupus erythematosus]
Neoplasms
[Biochemical study on steroid sulfatase and its clinical application to the obstetrics and gynecology]
Neoplasms
[Changes in arylsulphatase activity in blood serum in patients with breast cancer before and after treatment]
Neoplasms
[Detection and distribution of the hydrolytic enzymes beta-D-glucuronidase, beta-D-galactosidase, beta-D-glucosidase and arylsulfatase in intracranial tumors]
Neoplasms
[Endogenous levels and dynamics of estrogen sulfates--physiological and pathological roles of estrone sulfate and estradiol 17-sulfate]
Neoplasms
[The influence of tumor growth on natural cytotoxicity and activity of some lysosomal enzymes of human effector cells and the C3HA mouse splenocytes]
Nephrotic Syndrome
Sulfatase 2 Is Associated with Steroid Resistance in Childhood Nephrotic Syndrome.
Nervous System Diseases
Arylsulfatase A bound to poly(butyl cyanoacrylate) nanoparticles for enzyme replacement therapy--physicochemical evaluation.
Nervous System Diseases
Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy.
Nervous System Diseases
Enzymic detection of metachromatic leukodystrophy patients and heterozygotes.
Nervous System Diseases
Increased prevalence of pervasive developmental disorders in children with slight arylsulfatase A deficiency.
Nervous System Diseases
Reduced activity of arylsulfatase A and predisposition to neurological disorders: analysis of 140 pediatric patients.
Neurilemmoma
[Demonstration and distribution of the enzymes: beta-D-glucuronidase, beta-D-galactosidase, beta-D-glucosidase, and arylsulfatase in neurinomas.]
Neuroblastoma
Urinary arylsulfatase in normal children and in patients with pediatric malignant disease.
Neurodegenerative Diseases
An Italian cohort study identifies four new pathologic mutations in the ARSA gene.
Neurodegenerative Diseases
Artificially Induced Pluripotent Stem Cell-Derived Whole-Brain Organoid for Modelling the Pathophysiology of Metachromatic Leukodystrophy and Drug Repurposing.
Neurodegenerative Diseases
Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.
Neurodegenerative Diseases
Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?
Neurodegenerative Diseases
Biochemical profiling to predict disease severity in metachromatic leukodystrophy.
Neurodegenerative Diseases
Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.
Neurodegenerative Diseases
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.
Neurodegenerative Diseases
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Neurodegenerative Diseases
Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.
Neurodegenerative Diseases
Diagnosis of pseudo-arylsulfatase A deficiency with electrophoretic techniques.
Neurodegenerative Diseases
EFFICIENT INTRACEREBRAL DELIVERY OF AAV5 VECTOR ENCODING HUMAN ARSA IN NON-HUMAN PRIMATE.
Neurodegenerative Diseases
Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency.
Neurodegenerative Diseases
Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.
Neurodegenerative Diseases
Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation.
Neurodegenerative Diseases
Late infantile form metachromatic leukodystrophy: report of one case.
Neurodegenerative Diseases
Metachromatic leukodystrophy and nonverbal learning disability: neuropsychological and neuroradiological findings in heterozygous carriers.
Neurodegenerative Diseases
Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews.
Neurodegenerative Diseases
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Neurodegenerative Diseases
Pseudo arylsulfatase A deficiency. Biosynthesis of an abnormal arylsulfatase A.
Neurodegenerative Diseases
Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.
Neurologic Manifestations
Development of nanoparticle-bound arylsulfatase B for enzyme replacement therapy of mucopolysaccharidosis VI.
Neuronal Ceroid-Lipofuscinoses
A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Lacritin and other autophagy associated proteins in ocular surface health.
Neuronal Ceroid-Lipofuscinoses
Multiple sulfatase deficiency with early severe retinal degeneration.
Niemann-Pick Disease, Type C
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.
Niemann-Pick Diseases
Lacritin and other autophagy associated proteins in ocular surface health.
Niemann-Pick Diseases
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.
Niemann-Pick Diseases
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
Niemann-Pick Diseases
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Non-alcoholic Fatty Liver Disease
Knockout of sulfatase 2 is associated with decreased steatohepatitis and fibrosis in a mouse model of nonalcoholic fatty liver disease.
Ocular Hypertension
Lacritin and other autophagy associated proteins in ocular surface health.
Osteoarthritis
Profile of glycosaminoglycan-degrading glycosidases and glycoside sulfatases secreted by human articular chondrocytes in homeostasis and inflammation.
Osteoarthritis, Knee
Lysosomal enzymes in serum and synovial fluid in patients with osteoarthritis.
Ovarian Neoplasms
Clinical significance of the estrogen-modifying enzymes steroid sulfatase and estrogen sulfotransferase in epithelial ovarian cancer.
Ovarian Neoplasms
HSulf-1 modulates HGF-mediated tumor cell invasion and signaling in head and neck squamous carcinoma.
Ovarian Neoplasms
Incorporating SULF1 polymorphisms in a pretreatment CT-based radiomic model for predicting platinum resistance in ovarian cancer treatment.
Ovarian Neoplasms
Sulfated glycosaminoglycans mediate prion-like behavior of p53 aggregates.
Ovarian Neoplasms
The Important Roles of Steroid Sulfatase and Sulfotransferases in Gynecological Diseases.
Ovarian Neoplasms
[Molecular constitution of human arylsulfatase A and its alteration in cancer]
Pancreatic Neoplasms
Computational and Biological Evaluation of Quinazolinone Prodrug for Targeting Pancreatic Cancer.
Pancreatic Neoplasms
Enhanced levels of Hsulf-1 interfere with heparin-binding growth factor signaling in pancreatic cancer.
Pancreatic Neoplasms
Sulfatase 1 expression in pancreatic cancer and its correlation with clinicopathological features and postoperative prognosis.
Papilledema
Reversed papilledema in an MPS VI patient with galsulfase (Naglazyme((R))) therapy.
Parkinson Disease
Arylsulfatase A (ASA) in Parkinson's Disease: From Pathogenesis to Biomarker Potential.
Parkinson Disease
Arylsulfatase A, a genetic modifier of Parkinson's disease, is an ?-synuclein chaperone.
Parkinson Disease
Changes in plasma arylsulfatase A level as a compensatory biomarker of early Parkinson's disease.
Parkinson Disease
Genetic analysis of arylsulfatase A (ARSA) in Chinese patients with Parkinson's disease.
Parkinsonian Disorders
Arylsulphatase A (ASA) activity in parkinsonism and symptomatic essential tremor.
Parkinsonian Disorders
Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?
Periodontitis
Relationship of subgingival plaque flora to lysosomal and cytoplasmic enzyme activity in gingival crevicular fluid.
Peroxisomal Disorders
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Pleurisy
Effects of several anti-inflammatory drugs on the various parameters involved in the inflammatory response in rat carrageenin-induced pleurisy.
Polychondritis, Relapsing
Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
Polyneuropathies
Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family.
Polyneuropathies
Polyneuropathy with antibodies to sulphatide and decreased level of arylsulphatase A.
Pre-Eclampsia
Evaluation of a radioimmunoassay for serum unconjugated estriol using commercial reagents.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Arylsulfatase B in Kurloff cells: increased activity of anionic isoforms in guinea pig acute lymphoblastic leukemia.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Serum adenosine deaminase and arylsulphatase A as an index of early infiltration of central nervous system in acute lymphoblastic leukemia.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
[Arylsulfatase A and B activity in acute lymphoblastic leukemia in children]
Pregnancy, High-Risk
Evaluation of a radioimmunoassay for serum unconjugated estriol using commercial reagents.
Premature Birth
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.
Propionic Acidemia
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Prostatic Hyperplasia
Steroid sulfate sulfatase in human benign prostatic hyperplasia: characterization and quantification of the enzyme in epithelium and stroma.
Prostatic Neoplasms
Arylsulfatase A activities in urine and tissues taken from bladder cancer patients.
Prostatic Neoplasms
Arylsulfatase B (N-acetylgalactosamine-4-sulfatase): potential role as a biomarker in prostate cancer.
Prostatic Neoplasms
Dihydrotestosterone inhibits arylsulfatase B and Dickkopf Wnt signaling pathway inhibitor (DKK)-3 leading to enhanced Wnt signaling in prostate epithelium in response to stromal Wnt3A.
Prostatic Neoplasms
Inhibition of steryl sulfatase activity in LNCaP human prostate cancer cells.
Protein Deficiency
An Unusual Homozygous Arylsulfatase A Pseudodeficiency in a Metachromatic Leukodystrophy Tunisian Patient.
Protein Deficiency
Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry.
Pulmonary Disease, Chronic Obstructive
Activity of ?1-antitrypsin and some lysosomal enzymes in the blood serum of patients with chronic obstructive pulmonary disease after smoking cessation.
Pulmonary Disease, Chronic Obstructive
Expression, activity and localization of lysosomal sulfatases in Chronic Obstructive Pulmonary Disease.
Pulmonary Disease, Chronic Obstructive
Sulfatase modifying factor 1 (SUMF1) is associated with Chronic Obstructive Pulmonary Disease.
pyruvate carboxylase deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Pyruvate Carboxylase Deficiency Disease
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
pyruvate dehydrogenase (nadp+) deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Pyruvate Dehydrogenase Complex Deficiency Disease
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Renal Insufficiency, Chronic
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Retinal Dystrophies
Lacritin and other autophagy associated proteins in ocular surface health.
Retinitis Pigmentosa
Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19.
Rhinitis, Allergic, Seasonal
Major basic protein, eosinophil cationic protein, and arylsulfatase in nasal secretions of patients with Japanese cedar pollinosis.
Salpingitis
Estrone and dehydroepiandrosterone sulfatase activities in normal and pathological human endometrium biopsies.
Sandhoff Disease
Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients.
Sandhoff Disease
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
Sarcoma, Yoshida
[Histochemical studies on Yoshida sarcoma cells-polysaccharide, dehydrogenase, sulfatase, desulfurase, lipase.]
Schistosomiasis
Activity of some hepatic enzymes in schistosomiasis and concomitant alteration of arylsulfatase B.
Sepsis
Highly increased levels of serum beta-hexosaminidase, arylsulphatase A and beta-galactosidase in a patient with sepsis.
Skin Diseases
6-[2-(adamantylidene)-hydroxybenzoxazole]-O-sulfamate, a steroid sulfatase inhibitor for the treatment of androgen- and estrogen-dependent diseases.
Smith-Lemli-Opitz Syndrome
Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
Sneddon Syndrome
Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter.
Sphingolipidoses
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Sphingolipidoses
Non-inhibitory antibodies impede lysosomal storage reduction during enzyme replacement therapy of a lysosomal storage disease.
Spinal Cord Compression
Development of nanoparticle-bound arylsulfatase B for enzyme replacement therapy of mucopolysaccharidosis VI.
Spinal Cord Injuries
Arylsulfatase B improves locomotor function after mouse spinal cord injury.
Squamous Cell Carcinoma of Head and Neck
Expression of the Extracellular Sulfatase SULF2 Affects Survival of Head and Neck Squamous Cell Carcinoma Patients.
Starvation
Cytochemical investigation of the digestive gland of two strombidae species (Strombus gigas and Strombus pugilis) in relation to the nutrition.
Starvation
Genetic interactions between regulators of Chlamydomonas phosphorus and sulfur deprivation responses.
Starvation
Lysosomal enzyme activities in muscle following starvation and refeeding in the saithe Pollachius virens L.
Starvation
Purification and biosynthesis of a derepressible periplasmic arylsulfatase from Chlamydomonas reinhardtii.
Starvation
Regulation of the sulfate starvation response in Pseudomonas aeruginosa: role of cysteine biosynthetic intermediates.
steryl-sulfatase deficiency
Congenital hypopituitarism as a cause of undetectable estriol levels in the maternal triple-marker screen.
steryl-sulfatase deficiency
Ichthyosis: the skin manifestation of multiple sulfatase deficiency.
steryl-sulfatase deficiency
Placental steroid deficiency: association with arylsulfatase A deficiency.
steryl-sulfatase deficiency
Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis.
steryl-sulfatase deficiency
Steroid sulphatase deficiency. Steroid sulphatase and arylsulphatase C determination in normal and affected fibroblasts.
Stomach Neoplasms
Arylsulfatase, betagalactosidase and lysozyme in gastric cancer cells and its relationship to invasion.
Sulfatidosis
Human urinary sulfatides in patients with sulfatidosis (metachromatic leukodystrophy).
Sulfatidosis
Rapid method for measuring arylsulfatase A and B in leucocytes as a diagnosis for sulfatidosis, mucosulfatidosis and mucopolysaccharidosis VI.
Tay-Sachs Disease
Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients.
Tay-Sachs Disease
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
Teratoma
Urinary arylsulfatase in normal children and in patients with pediatric malignant disease.
Testicular Neoplasms
Arylsulfatase A activity of urine in patients with various genitourinary tract disorders.
transaldolase deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Tuberculosis
An alpha-formylglycine building block for fmoc-based solid-phase peptide synthesis.
Tuberculosis
Expression and functional analysis of a predicted AtsG arylsulfatase identified from Mycobacterium tuberculosis genomic data.
Tuberculosis
Hypothesis: Cystic fibrosis carrier geography reflects interactions of tuberculosis and hypertension with vitamin D deficiency, altitude and temperature. Vitamin D deficiency effects and CF carrier advantage.
Tuberculosis
Mycobacterium tuberculosis AtsG (Rv0296c), GlmU (Rv1018c) and SahH (Rv3248c) Proteins Function as the Human IL-8-Binding Effectors and Contribute to Pathogen Entry into Human Neutrophils.
Tuberculosis
[Differentiation between Mycobacterium tuberculosis and Mycobacterium bovis by means of an arylsulphatase test]
Urethritis
Arylsulfatase A activities in urine and tissues taken from bladder cancer patients.
Urethritis
Arylsulfatase A activity of urine in patients with various genitourinary tract disorders.
Urinary Bladder Neoplasms
Arylsulfatase A activities in urine and tissues taken from bladder cancer patients.
Urinary Bladder Neoplasms
Arylsulfatase A activity of urine in patients with various genitourinary tract disorders.
Urinary Bladder Neoplasms
Clinical significance of a variant form of urinary arylsulfatase A.
Urinary Tract Infections
[Clinical characteristics in patients with purple urine bag syndrome]
Urinary Tract Infections
[Purple urine bag syndrome (PUBS) associated with strong alkaline urine]
Usher Syndromes
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.
Usher Syndromes
Decoding the consecutive lysosomal degradation of 3-O-sulfate containing heparan sulfate by Arylsulfatase G (ARSG).
Usher Syndromes
Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome.
Uterine Cervical Neoplasms
Genetic variations in the SULF1 gene alter the risk of cervical cancer and precancerous lesions.
Virus Diseases
Common Genetic Variants and Risk for HPV Persistence and Progression to Cervical Cancer.
Vitamin A Deficiency
Alterations in surface carbohydrates and in some functional properties of liver lysosomal membrane in vitamin A-deficient rat.
Vitamin A Deficiency
Urinary excretion of arylsulfatases in malnourished/vitamin A deficient children.
Vitamin E Deficiency
Aryl sulfatase in vitamin E deficiency and in amyotrophic lateral sclerosis.
Wolman Disease
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
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KM VALUE [mM]
SUBSTRATE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
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IC50 VALUE [mM]
INHIBITOR
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
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SPECIFIC ACTIVITY [µmol/min/mg]
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
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pH OPTIMUM
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
5.6
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pH RANGE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
4 - 6
4 - 6
-
pH 4: about 35% of maximal activity, pH 6.0: about 75% of maximal activity
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TEMPERATURE OPTIMUM
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
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ORGANISM
COMMENTARY
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
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SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
SOURCE
-
enzyme expression is unaltered in cancer tissue compared to nonmalignant tissue
brenda
-
very low enzymic activity at 41 weeks of gestation, which reduce to a half at 42 weeks of gestation, while values of sulfatide concentrations increase
brenda
-
primary epithelial cell, highest activity of galacose 6-sulfatase and aryl sulfatase B of all the cell lines tested
brenda
-
enzyme expression is unaltered in breast cancer tissue compared to nonmalignant tissue
brenda
-
remarkably low activity of arylsulfatase A, arylsulfatase B, galacose 6-sulfatase and steryl sulfatase, but not iduronate 2-sulfatase
brenda
-
primary myoepithelial cell, highest activity of steryl sulfatase and aryl sulfatase B of all the cell lines tested
brenda
-
remarkably low activity of arylsulfatase A, arylsulfatase B, galacose 6-sulfatase and steryl sulfatase, but not iduronate 2-sulfatase
brenda
additional information
additional information
mRNA expression is found in all tissues tested
brenda
additional information
-
activity of arylsulphatase A decreases in the cord, in membranes far from the internal uterine os, in membranes close to the internal uterine os and in the placenta of healthy gravidas at term pregnancy, following spontaneous birth, overview
brenda
additional information
-
sulfatase mRNA expression levels in 13 malignant and nonmalignant tissue samples, overview
brenda
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LOCALIZATION
ORGANISM
UNIPROT
COMMENTARY
GeneOntology No.
LITERATURE
SOURCE
protein carries mannose 6-phosphate, indicating lysosomal sorting
brenda
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GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
malfunction
physiological function
malfunction
-
metachromatic leukodystrophy, MLD, is a lethal neurodegenerative disease caused by a deficiency in the lysosomal arylsulfatase A enzyme leading to the accumulation of sulfatides in glial and neuronal cells
malfunction
-
metachromatic leukodystrophy, MLD, is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme arylsulfatase A, ARSA
physiological function
-
arylsulphatase A is a lysosomal enzyme that catabolizes sulphatides, it is likely to be under hormonal control, in particular, by estradiol and progesterone
physiological function
a one-time injection of human arylsufatase B into injured mouse spinal cord eliminates immunoreactivity for chondroitin sulfates within five days, and up to 9 weeks after injury. After a moderate spinal cord injury, locomotor recovery assessed by the Basso Mouse Scale in arylsulfatase B treated mice improves, compared to the buffer-treated control group, at 6 weeks after injection. After a severe spinal cord injury, mice injected with equivalent units of arylsulfatase B or bacterial chondroitinase ABC improve similarly and both groups achieve significantly more locomotor recovery than the buffer-treated control mice. Serotonin and tyrosine hydroxylase immunoreactive axons are more extensively present in mouse spinal cords treated with arylsulfatase B and chondroitinase ABC, and the immunoreactive axons penetrate further beyond the injury site than in control mice
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UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION
The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable).
The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). ARSK_HUMAN
536
1
61450
Swiss-Prot
Secretory Pathway (Reliability: 2)
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MOLECULAR WEIGHT
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
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SUBUNIT
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
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POSTTRANSLATIONAL MODIFICATION
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
glycoprotein
when expressed in human cells, isoform ArsK is detected as a 68-kDa glycoprotein carrying at least four N-glycans of both the complex and high-mannose type. Protein carries mannose 6-phosphate, indicating lysosomal sorting
glycoprotein
glycoprotein
-
ASG is a glycoprotein that binds specifically to mannose 6-phosphate receptors, the activity of arylsulfatase G depends on the Cys84 residue that is predicted to be posttranslationally converted to the critical active site Calpha-formylglycine
glycoprotein
lowering pH and increasing glycosylation reduces the flexibility of the enzyme. At acidic pH, the glycosylated enzyme presents a higher secondary conformational stability when compared to its nonglycosylated counterpart
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PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
C80A
about 20% of wild-type activity at neutral pH, about 5% of wild-type activity at pH optimum
G137A
-
the mutation is associated with X-linked recessive chondrodysplasia punctata
I40S
-
the mutation is associated with X-linked recessive chondrodysplasia punctata
N350S
mutant exhibits a consistent degree of unfolding, which may be related to its in vitro reduced stability
P578S
-
the mutation is associated with X-linked recessive chondrodysplasia punctata
T409M
-
the mutation is associated with X-linked recessive chondrodysplasia punctata
W124G
-
naturally occurring missense mutation causing ARSA deficiency, isolated from two Tunisian patients with late infantile metachromatic leukodystrophy, MLD
additional information
-
intracerebral injection of a serotype 5 adeno-associated vector, AAV2-5, encoding human ARSA in ARSA-deficient mice corrects the biochemical, neuropathological and behavioral abnormalities. Injection in the right hemisphere and into three selected areas of the centrum semiovale white matter, or in the deep gray matter nuclei, caudate nucleus, putamen, thalamus, of six non-human primates, Macaca fascicularis, to evaluate vector distribution, as well as expression and activity of human ARSA, overview. ARSA enzyme is expressed in multiple interconnected brain areas and ARSA activity is increased by 12-38% in a brain volume that corresponded to 5065% of injected hemisphere
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pH STABILITY
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
4
-
below pH 4 in presence of 1% SDS arylsulfatase A is irreversibly converted into inactive subunits
135529
additional information
additional information
lowering pH and increasing glycosylation reduces the flexibility of the enzyme. At acidic pH, the glycosylated enzyme presents a higher secondary conformational stability when compared to its nonglycosylated counterpart
730069
additional information
-
lowering pH and increasing glycosylation reduces the flexibility of the enzyme. At acidic pH, the glycosylated enzyme presents a higher secondary conformational stability when compared to its nonglycosylated counterpart
730069
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TEMPERATURE STABILITY
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
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STORAGE STABILITY
ORGANISM
UNIPROT
LITERATURE
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PURIFICATION (Commentary)
ORGANISM
UNIPROT
LITERATURE
retroviral expressed enzyme purified with ion-exchange DEAE-cellulose chromatography followed by immuno-affinity purification using a polyclonal antibody against arylsulfatase A sequence
-
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CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
ARSA, cloning of the coding sequence of the human ARSA cDNA tagged with HA epitope in C-terminus into viral serotype 5 adeno-associated vector, AAV2-5
-
ARSA, DNA and amino acid sequence determination and analysis of wild-type and mutant
-
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APPLICATION
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
medicine
medicine
-
leukocytes of patients with cerebral palsy show lower enzyme activity as compared to control. Km value for 4-nitrocatechol sulfate in patients' leukocytes is about 0.26 mM, in control 0.21 mM, whereas Vmax value in patients reaches only 58% of healthy control. All investigated patients reveal presence of the most common mutations associated with enzyme pseudodeficiency
medicine
-
very low enzymic activity in deciduum of women at 41 weeks of gestation, which reduce to a half at 42 weeks of gestation, while values of sulfatide concentrations increase
medicine
-
potential benefits of ARSA brain gene therapy in patients with metachromatic leukodystrophy, MLD
medicine
a one-time injection of human arylsufatase B into injured mouse spinal cord eliminates immunoreactivity for chondroitin sulfates within five days, and up to 9 weeks after injury. After a moderate spinal cord injury, locomotor recovery assessed by the Basso Mouse Scale in arylsulfatase B treated mice improves, compared to the buffer-treated control group, at 6 weeks after injection. After a severe spinal cord injury, mice injected with equivalent units of arylsulfatase B or bacterial chondroitinase ABC improve similarly and both groups achieve significantly more locomotor recovery than the buffer-treated control mice. Serotonin and tyrosine hydroxylase immunoreactive axons are more extensively present in mouse spinal cords treated with arylsulfatase B and chondroitinase ABC, and the immunoreactive axons penetrate further beyond the injury site than in control mice
medicine
assay for the diagnosis of metachromatic leukodystrophy. Determination of arylsulfatase A activity toward the natural substrate, galactosyl-3-sulfate ceramide or sulfatide, is performed using neat sulfatide without chemical modification. The hydrolyzed sulfatide is monitored upon inclusion of the colorimetric reagent Azure A. Within a clinical context, the method definitely discriminates between healthy subject samples and metachromatic leukodystrophy patient samples
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REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Shapira, E.; Nadler, H.L.
Purification and some properties of soluble human liver arylsulfatases
Arch. Biochem. Biophys.
170
179-187
1975
Homo sapiens
brenda
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Isomer specifici kinetics of dopamine beta-hydroxylase and arylsulfatase towards catecholamine sulfates
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20
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1990
Homo sapiens, Sus scrofa
brenda
Bognar, S.K.; Foretic, B.; Furac, I.; Vukelic, Z.; Grubesic, Z.
Kinetics and activity of arylsulfatase A in leukocytes derived from patients with cerebral palsy
Acta Pharm.
56
95-104
2006
Homo sapiens
brenda
Martino, S.; Consiglio, A.; Cavalieri, C.; Tiribuzi, R.; Costanzi, E.; Severini, G.M.; Emiliani, C.; Bordignon, C.; Orlacchio, A.
Expression and purification of a human, soluble arylsulfatase A for Metachromatic Leukodystrophy enzyme replacement therapy
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117
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2005
Homo sapiens
brenda
Bhattacharyya, S.; Tobacman, J.K.
Steroid sulfatase, arylsulfatases A and B, galactose-6-sulfatase, and iduronate sulfatase in mammary cells and effects of sulfated and non-sulfated estrogens on sulfatase activity
J. Steroid Biochem. Mol. Biol.
103
20-34
2007
Homo sapiens
brenda
Baldoni, E.; Traini, E.; Tomassoni, D.; Indraccolo, U.; Indraccolo, S.R.; Vitaioli, L.
Biochemical determinations of arylsulphatase A activity and sulphatide concentrations in decidua of women at 41 and 42 weeks of gestation
Eur. J. Obstet. Gynecol. Reprod. Biol.
134
24-28
2007
Homo sapiens
brenda
Nino, M.; Matos-Miranda, C.; Maeda, M.; Chen, L.; Allanson, J.; Armour, C.; Greene, C.; Kamaluddeen, M.; Rita, D.; Medne, L.; Zackai, E.; Mansour, S.; Superti-Furga, A.; Lewanda, A.; Bober, M.; Rosenbaum, K.; Braverman, N.
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata
Am. J. Med. Genet. A
146A
997-1008
2008
Homo sapiens
brenda
Frese, M.A.; Schulz, S.; Dierks, T.
Arylsulfatase G, a novel lysosomal sulfatase
J. Biol. Chem.
283
11388-11395
2008
Homo sapiens
brenda
Miksits, M.; Wlcek, K.; Svoboda, M.; Thalhammer, T.; Ellinger, I.; Stefanzl, G.; Falany, C.N.; Szekeres, T.; Jaeger, W.
Expression of sulfotransferases and sulfatases in human breast cancer: impact on resveratrol metabolism
Cancer Lett.
289
237-245
2010
Homo sapiens
brenda
Colle, M.A.; Piguet, F.; Bertrand, L.; Raoul, S.; Bieche, I.; Dubreil, L.; Sloothaak, D.; Bouquet, C.; Moullier, P.; Aubourg, P.; Cherel, Y.; Cartier, N.; Sevin, C.
Efficient intracerebral delivery of AAV5 vector encoding human ARSA in non-human primate
Hum. Mol. Genet.
19
147-158
2010
Homo sapiens
brenda
Dorboz, I.; Eymard-Pierre, E.; Kefi, R.; Abdelhak, S.; Miladi, N.; Boespflug-Tanguy, O.; Boespflug-Tanguy, O.
Identification of a new arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD)
J. Neurol. Sci.
287
278-280
2009
Homo sapiens
brenda
Indraccolo, U.; Traini, E.; Baldoni, E.; Indraccolo, S.R.; Vitaioli, L.
Arylsulphatase A activity and sulphatide concentration in placenta, membranes and cord after delivery
J. Perinat. Med.
37
497-502
2009
Homo sapiens
brenda
Morena, F.; di Girolamo, I.; Emiliani, C.; Gritti, A.; Biffi, A.; Martino, S.
A new analytical bench assay for the determination of arylsulfatase A activity toward galactosyl-3-sulfate ceramide: implication for metachromatic leukodystrophy diagnosis
Anal. Chem.
86
473-481
2014
Homo sapiens (P15289), Homo sapiens
brenda
Wiegmann, E.M.; Westendorf, E.; Kalus, I.; Pringle, T.H.; Luebke, T.; Dierks, T.
Arylsulfatase K, a novel lysosomal sulfatase
J. Biol. Chem.
288
30019-30028
2013
Homo sapiens (Q6UWY0), Homo sapiens
brenda
Virgens, M.Y.; Pol-Fachin, L.; Verli, H.; Saraiva-Pereira, M.L.
Effects of glycosylation and pH conditions in the dynamics of human arylsulfatase A
J. Biomol. Struct. Dyn.
32
567-579
2014
Homo sapiens (P15289), Homo sapiens
brenda
Yoo, M.; Khaled, M.; Gibbs, K.M.; Kim, J.; Kowalewski, B.; Dierks, T.; Schachner, M.
Arylsulfatase B improves locomotor function after mouse spinal cord injury
PLoS ONE
8
e57415
2013
Homo sapiens (P15848), Homo sapiens
brenda
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