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4-methylumbelliferyl sulfate + H2O
4-methylumbelliferol + sulfate
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-
-
?
4-methylumbelliferyl sulfate + H2O
4-methylumbelliferone + sulfate
-
-
-
?
4-methylumbelliferyl sulfate + H2O
sulfate + 4-methylumbelliferone
-
-
-
?
chondroitin 4-sulfate + H2O
chondroitin + sulfate
-
-
-
?
chondroitin sulfate + H2O
chondroitin + sulfate
-
-
-
?
dermatan sulfate + H2O
dermatan + sulfate
-
-
-
?
sulfated glycosaminoglycan + H2O
glycosaminoglycan + sulfate
-
-
-
?
(2-acetamido-2-deoxy-O-(beta-D-glucuronic acid)-4-O-sulpho-D-galactose)2 + H2O
(2-acetamido-2-deoxy-O-(beta-D-glucuronic acid)-D-galactose)2 + sulfate
-
exo-sulfatase, stepwise degradation of glycosaminoglycans
-
-
?
4-methylumbelliferyl sulfate + H2O
4-methylumbelliferol + sulfate
-
-
-
-
?
4-methylumbelliferyl sulfate + H2O
4-methylumbelliferone + sulfate
-
-
-
-
?
4-nitrocatechol sulfate + H2O
4-nitrocatechol + sulfate
-
-
-
-
?
chondroitin 4-sulfate + H2O
chondroitin + sulfate
-
-
-
-
?
chondroitin 4-sulfate-heptasaccharide + H2O
chondroitin 4-sulfate-heptasaccharide + sulfate
-
reduced activity in patients with Maroteaux-Lamy Syndrome
-
-
?
chondroitin 4-sulfate-tetrasaccharide + H2O
chondroitin 4-sulfate-tetrasaccharide + sulfate
-
only the 4-sulfated endgroup is attacked by the enzyme, sulfate is released only in presence of beta-glucuronidase, acts as exosulphatase
-
-
?
chondroitin sulfate + H2O
?
-
-
-
-
?
chondroitin sulfate + H2O
chondroitin + sulfate
-
-
-
-
?
chondroitin-4-sulfate + H2O
chondroitin + sulfate
-
arylsulfatase B removes 4-sulfate groups from the sulfated glycosaminoglycans chondroitin-4-sulfate and dermatan sulfate
-
-
?
dermatan sulfate + H2O
?
-
-
-
-
?
dermatan sulfate + H2O
dermatan + sulfate
N-acetygalactosamine 4-sulfate-(1-4)-beta-glucuronic acid-(1-3)-beta-N-acetylgalactosaminitol 4-sulfate + H2O
N-acetygalactosamine-(1-4)-beta glucuronic acid-(1-3)-beta N-acetylgalactosaminitol 4-sulfate + sulfate
-
oligosaccharides
-
-
?
N-acetyl-D-galactosamine 4-sulfate + H2O
N-acetyl-D-galactosamine + sulfate
-
-
-
-
?
N-acetyl-D-galactosamine 4-sulfate units + H2O
N-acetyl-D-galactosamine units + sulfate
-
acts also on N-acetylglucosamine 4-sulfate
135542, 135544, 135545, 135548, 135551, 135554, 135557, 135560, 135562, 135563, 135564 -
-
?
N-acetylgalactosamine 4-sulfate + H2O
N-acetylgalactosamine + sulfate
-
-
-
-
?
p-nitrocatechol sulfate + H2O
p-nitrocatechol + sulfate
-
enzymes catalyze in addition to reaction of EC 3.1.6.12 also arylsulfatase reaction , see also EC 3.1.6.1
-
-
?
UDP-N-acetylgalactosamine-4-sulfate + H2O
UDP-N-acetylgalactosamine + sulfate
-
-
-
-
?
additional information
?
-
dermatan sulfate + H2O
dermatan + sulfate
-
-
-
-
?
dermatan sulfate + H2O
dermatan + sulfate
-
reduced activity in patients with Maroteaux-Lamy Syndrome
-
-
?
dermatan sulfate + H2O
dermatan + sulfate
-
arylsulfatase B removes 4-sulfate groups from the sulfated glycosaminoglycans chondroitin-4-sulfate and dermatan sulfate
-
-
?
additional information
?
-
mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-4-sulfatase. Mutations in the N-acetylgalactosamine-4-sulfatase gene are responsible for 4S deficiency, which leads to the intralysosomal storage of partially degraded glycosaminoglycan, dermatan sulfate, and chondroitin 4-sulfate
-
-
?
additional information
?
-
-
mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-4-sulfatase. Mutations in the N-acetylgalactosamine-4-sulfatase gene are responsible for 4S deficiency, which leads to the intralysosomal storage of partially degraded glycosaminoglycan, dermatan sulfate, and chondroitin 4-sulfate
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-
?
additional information
?
-
-
the enzyme is required for the degradation of the glycosaminoglycan substrates dermatan and chondroitin sulfate. A 4-sulfatase deficiency results in the accumulation of undegraded substrate and causes the severe lysosomal storage disorder mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome. A wide variation in clinical severity is observed between MPS VI patients and reflects the number of different 4-sulfatase mutations that can cause the disorder.Y210C is detected in about 10% of the MPS VI patients
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-
?
additional information
?
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-
ARSB removes 4-sulfate groups from the nonreducing end of chondroitin-4-sulfate and dermatan sulfate
-
-
?
additional information
?
-
-
ASB is a lysosomal exohydrolase, cleaving the 4-sulfate from the N-acetylgalactosamine-4-sulfate residue at the nonreducing terminal of glycosaminoglycan structures
-
-
?
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arylsulfatase (type i) deficiency
Multiple sulfatase deficiency with a novel biochemical presentation.
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.
Dentigerous Cyst
Occurrence of multiple dentigerous cysts in a patient with the Maroteaux-Lamy syndrome (mucopolysaccharidosis, type VI).
Dysostoses
Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI.
Hypersensitivity
Immune response to enzyme replacement therapy: clinical signs of hypersensitivity reactions and altered enzyme distribution in a high titre rat model.
Leukodystrophy, Metachromatic
Multiple sulfatase deficiency with a novel biochemical presentation.
Lysosomal Storage Diseases
ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs.
Lysosomal Storage Diseases
Arylsulfatase B regulates interaction of chondroitin-4-sulfate and kininogen in renal epithelial cells.
Lysosomal Storage Diseases
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.
Lysosomal Storage Diseases
Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase.
Lysosomal Storage Diseases
Expert recommendations for the laboratory diagnosis of MPS VI.
Lysosomal Storage Diseases
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.
Lysosomal Storage Diseases
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease.
Lysosomal Storage Diseases
Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation.
Lysosomal Storage Diseases
Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.
Lysosomal Storage Diseases
Pharmacodynamics, pharmacokinetics and biodistribution of recombinant human N-acetylgalactosamine 4-sulfatase after 6months of therapy in cats using different IV infusion durations.
Lysosomal Storage Diseases
Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study.
Lysosomal Storage Diseases
The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
Lysosomal Storage Diseases
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes.
Meningitis
Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.
Mucopolysaccharidoses
Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease.
Mucopolysaccharidoses
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings.
Mucopolysaccharidoses
Advantages of using same species enzyme for replacement therapy in a feline model of mucopolysaccharidosis type VI.
Mucopolysaccharidoses
An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum.
Mucopolysaccharidoses
Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients.
Mucopolysaccharidoses
ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs.
Mucopolysaccharidoses
Aryplase (Biomarin).
Mucopolysaccharidoses
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.
Mucopolysaccharidoses
Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI.
Mucopolysaccharidoses
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.
Mucopolysaccharidoses
Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI.
Mucopolysaccharidoses
Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase.
Mucopolysaccharidoses
Deletion of exon 4 in the N-acetylgalactosamine-4-sulfatase gene in a Taiwanese patient with mucopolysaccharidosis type VI.
Mucopolysaccharidoses
Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots.
Mucopolysaccharidoses
Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI.
Mucopolysaccharidoses
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI.
Mucopolysaccharidoses
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age-a sibling control study.
Mucopolysaccharidoses
Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan.
Mucopolysaccharidoses
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Mucopolysaccharidoses
Enzyme replacement therapy in Mucopolysaccharidosis VI: evidence for immune responses and altered efficacy of treatment in animal models.
Mucopolysaccharidoses
Evaluation of fibroblast-mediated gene therapy in a feline model of mucopolysaccharidosis type VI.
Mucopolysaccharidoses
Feline mucopolysaccharidosis type VI. Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease.
Mucopolysaccharidoses
Feline mucopolysaccharidosis type VI: correction of glycosaminoglycan storage in myoblasts by retrovirus-mediated transfer of the feline N-acetylgalactosamine 4-sulfatase gene.
Mucopolysaccharidoses
Galsulfase: arylsulfatase B, BM 102, recombinant human arylsulfatase B, recombinant human N-acetylgalactosamine-4-sulfatase, rhASB.
Mucopolysaccharidoses
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.
Mucopolysaccharidoses
Human N-acetylgalactosamine-4-sulphatase biosynthesis and maturation in normal, Maroteaux-Lamy and multiple-sulphatase-deficient fibroblasts.
Mucopolysaccharidoses
Human N-acetylgalactosamine-4-sulphatase: protein maturation and isolation of genomic clones.
Mucopolysaccharidoses
Human pulmonary artery endothelial cells in the model of mucopolysaccharidosis VI present a prohypertensive phenotype.
Mucopolysaccharidoses
Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity.
Mucopolysaccharidoses
Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients.
Mucopolysaccharidoses
Immunoquantification of the low abundance lysosomal enzyme N-acetylgalactosamine 4-sulphatase.
Mucopolysaccharidoses
Improved Reagents for Newborn Screening of Mucopolysaccharidosis-I, II and VI by Tandem Mass Spectrometry.
Mucopolysaccharidoses
Liver transplantation: New treatment for mucopolysaccharidosis type VI in rats.
Mucopolysaccharidoses
Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series.
Mucopolysaccharidoses
Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): A single dose of galsulfase further reduces urine glycosaminoglycans after hematopoietic stem cell transplantation.
Mucopolysaccharidoses
Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activity.
Mucopolysaccharidoses
Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.
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 type VI: Report of two Taiwanese patients and identification of one novel mutation.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.
Mucopolysaccharidoses
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
Mucopolysaccharidoses
Mutational analysis of 105 mucopolysaccharidosis type VI patients.
Mucopolysaccharidoses
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy.
Mucopolysaccharidoses
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.
Mucopolysaccharidoses
N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.
Mucopolysaccharidoses
Neonatal Gene Therapy With a Gamma Retroviral Vector in Mucopolysaccharidosis VI Cats.
Mucopolysaccharidoses
Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.
Mucopolysaccharidoses
Overexpression of N-acetylgalactosamine-4-sulphatase induces a multiple sulphatase deficiency in mucopolysaccharidosis-type-VI fibroblasts.
Mucopolysaccharidoses
Processing of normal lysosomal and mutant N-acetylgalactosamine 4-sulphatase: BiP (immunoglobulin heavy-chain binding protein) may interact with critical protein contact sites.
Mucopolysaccharidoses
Receptor mediated binding of two glycosylation forms of N-acetylgalactosamine-4-sulphatase.
Mucopolysaccharidoses
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
Mucopolysaccharidoses
Regulation of N-acetylgalactosamine 4-sulfatase expression in retrovirus-transduced feline mucopolysaccharidosis type VI muscle cells.
Mucopolysaccharidoses
Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI.
Mucopolysaccharidoses
Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).
Mucopolysaccharidoses
The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
Mucopolysaccharidoses
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Mucopolysaccharidoses
Thrombocytopenia associated with galsulfase treatment.
Mucopolysaccharidoses
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes.
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
Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein.
Mucopolysaccharidosis III
Recombinant caprine 3H-[N-acetylglucosamine-6-sulfatase] and human 3H-[N-acetylgalactosamine-4-sulfatase]: plasma clearance, tissue distribution, and cellular uptake in the rat.
Mucopolysaccharidosis VI
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings.
Mucopolysaccharidosis VI
Advantages of using same species enzyme for replacement therapy in a feline model of mucopolysaccharidosis type VI.
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
Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients.
Mucopolysaccharidosis VI
Arylsulfatase B regulates interaction of chondroitin-4-sulfate and kininogen in renal epithelial cells.
Mucopolysaccharidosis VI
Aryplase (Biomarin).
Mucopolysaccharidosis VI
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.
Mucopolysaccharidosis VI
Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI.
Mucopolysaccharidosis VI
Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase.
Mucopolysaccharidosis VI
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.
Mucopolysaccharidosis VI
Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI.
Mucopolysaccharidosis VI
Deletion of exon 4 in the N-acetylgalactosamine-4-sulfatase gene in a Taiwanese patient with mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots.
Mucopolysaccharidosis VI
Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase.
Mucopolysaccharidosis VI
Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age-a sibling control study.
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 for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
Mucopolysaccharidosis VI
Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
Mucopolysaccharidosis VI
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Mucopolysaccharidosis VI
Enzyme replacement therapy in Mucopolysaccharidosis VI: evidence for immune responses and altered efficacy of treatment in animal models.
Mucopolysaccharidosis VI
Evaluation of fibroblast-mediated gene therapy in a feline model of mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
Expert recommendations for the laboratory diagnosis of MPS VI.
Mucopolysaccharidosis VI
Feline mucopolysaccharidosis type VI. Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease.
Mucopolysaccharidosis VI
Feline mucopolysaccharidosis type VI: correction of glycosaminoglycan storage in myoblasts by retrovirus-mediated transfer of the feline N-acetylgalactosamine 4-sulfatase gene.
Mucopolysaccharidosis VI
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.
Mucopolysaccharidosis VI
Human N-acetylgalactosamine-4-sulphatase biosynthesis and maturation in normal, Maroteaux-Lamy and multiple-sulphatase-deficient fibroblasts.
Mucopolysaccharidosis VI
Human N-acetylgalactosamine-4-sulphatase: protein maturation and isolation of genomic clones.
Mucopolysaccharidosis VI
Human pulmonary artery endothelial cells in the model of mucopolysaccharidosis VI present a prohypertensive phenotype.
Mucopolysaccharidosis VI
Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.
Mucopolysaccharidosis VI
Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients.
Mucopolysaccharidosis VI
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).
Mucopolysaccharidosis VI
Immunochemical characterization of feline and human N-acetylgalactosamine 4-sulfatase.
Mucopolysaccharidosis VI
Immunoquantification of the low abundance lysosomal enzyme N-acetylgalactosamine 4-sulphatase.
Mucopolysaccharidosis VI
Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.
Mucopolysaccharidosis VI
Intrathecal recombinant human 4-sulfatase reduces accumulation of glycosaminoglycans in dura of mucopolysaccharidosis VI cats.
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
Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI.
Mucopolysaccharidosis VI
Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): A single dose of galsulfase further reduces urine glycosaminoglycans after hematopoietic stem cell transplantation.
Mucopolysaccharidosis VI
Maroteaux-lamy syndrome: five novel mutations and their structural localization.
Mucopolysaccharidosis VI
Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene.
Mucopolysaccharidosis VI
Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activity.
Mucopolysaccharidosis VI
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.
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 type VI: Report of two Taiwanese patients and identification of one novel mutation.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.
Mucopolysaccharidosis VI
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
Mucopolysaccharidosis VI
Mutational analysis of 105 mucopolysaccharidosis type VI patients.
Mucopolysaccharidosis VI
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy.
Mucopolysaccharidosis VI
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.
Mucopolysaccharidosis VI
N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study.
Mucopolysaccharidosis VI
Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.
Mucopolysaccharidosis VI
Occurrence of multiple dentigerous cysts in a patient with the Maroteaux-Lamy syndrome (mucopolysaccharidosis, type VI).
Mucopolysaccharidosis VI
Overexpression of N-acetylgalactosamine-4-sulphatase induces a multiple sulphatase deficiency in mucopolysaccharidosis-type-VI fibroblasts.
Mucopolysaccharidosis VI
Pharmacodynamics, pharmacokinetics and biodistribution of recombinant human N-acetylgalactosamine 4-sulfatase after 6months of therapy in cats using different IV infusion durations.
Mucopolysaccharidosis VI
Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study.
Mucopolysaccharidosis VI
Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI.
Mucopolysaccharidosis VI
Processing of normal lysosomal and mutant N-acetylgalactosamine 4-sulphatase: BiP (immunoglobulin heavy-chain binding protein) may interact with critical protein contact sites.
Mucopolysaccharidosis VI
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
Mucopolysaccharidosis VI
Regulation of N-acetylgalactosamine 4-sulfatase expression in retrovirus-transduced feline mucopolysaccharidosis type VI muscle cells.
Mucopolysaccharidosis VI
Repeated intrathecal injections of recombinant human 4-sulphatase remove dural storage in mature mucopolysaccharidosis VI cats primed with a short-course tolerisation regimen.
Mucopolysaccharidosis VI
Replacement therapy in Mucopolysaccharidosis type VI: advantages of early onset of therapy.
Mucopolysaccharidosis VI
Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI.
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
The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
Mucopolysaccharidosis VI
The sulphatase of ox liver. XX. The preparation of sulphatases B1alpha and B1beta.
Mucopolysaccharidosis VI
Thrombocytopenia associated with galsulfase treatment.
Mucopolysaccharidosis VI
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes.
Mucopolysaccharidosis VI
Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutations in brief no. 127. Online.
Mucopolysaccharidosis VI
Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein.
Multiple Sulfatase Deficiency Disease
Multiple sulfatase deficiency with a novel biochemical presentation.
n-acetylgalactosamine-4-sulfatase deficiency
Immunoquantification of the low abundance lysosomal enzyme N-acetylgalactosamine 4-sulphatase.
n-acetylgalactosamine-4-sulfatase deficiency
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network.
Sarcoma, Avian
Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase.
Spinal Cord Compression
Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI.
Spinal Cord Compression
Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.
Tuberculosis
Characterization of Rv0394c gene encoding hyaluronidase and chondrosulfatase from Mycobacterium tuberculosis.
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C117R
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, severe phenotype
C192R
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, mild phenotype
C447F
associated with the severe phenotype of mucopolysaccharidosis type VI
C447S
associated with the severe phenotype of mucopolysaccharidosis type VI
D54N
associated with the severe phenotype of mucopolysaccharidosis type VI
D83Y
associated with the attenuated phenotype of mucopolysaccharidosis type VI
E421X
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
G171D
associated with the attenuated phenotype of mucopolysaccharidosis type VI
G171S
associated with the attenuated phenotype of mucopolysaccharidosis type VI
H430R
associated with the attenuated phenotype of mucopolysaccharidosis type VI
I296N
associated with the severe phenotype of mucopolysaccharidosis type VI
K439E
associated with the severe phenotype of mucopolysaccharidosis type VI
L236P
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation C405Y, mild phenotype
L321P
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
L472P
associated with the attenuated phenotype of mucopolysaccharidosis type VI
L498P
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation T92M, mild phenotype
L72Q
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, heterozygote of L72Q and 219delC/221-230delCGCTGGCGGC on same allele and 743delC on other allele, severe phenotype
L72R
associated with the severe phenotype of mucopolysaccharidosis type VI
M142I
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, intermediate phenotype
Q456X
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
Q503X
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
R102H
associated with the attenuated phenotype of mucopolysaccharidosis type VI
R160Q
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, intermediate phenotype
R160X
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
R315Q
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
R315X
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, heterozygote of the R315X and Y513W alleles, severe phenotype
R434I
associated with the attenuated phenotype of mucopolysaccharidosis type VI
R513X
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, heterozygote of the R315X and Y513W alleles, severe phenotype
S320R
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
T442M
associated with the attenuated phenotype of mucopolysaccharidosis type VI
T442R
associated with the attenuated phenotype of mucopolysaccharidosis type VI
T92M
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation L489P, mild phenotype
W146X
second mutation Y210C, mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, intermediate phenotype
W353R
associated with the severe phenotype of mucopolysaccharidosis type VI
C447F
-
mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability
C53S
-
the mutation causes ASB-deficiency, phenoytpe, overview. The enzyme is taken up into cultured ASB-deficient human fibroblasts, GM00519 cells, and translocates to the lysosomes, it is catalytically active. The enzyme enters target cells predominantly through the CI-M6P receptor. The uptake of rhASB is able to restore lysosomal function in an in vitro cell-based assay
G308R
-
mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability
H393P
-
mutation in MPS IV patient
K470A
-
mutation leads to an decrease of enzyme activity in the medium to 13% of total activity compared to 25% of the wild-type enzyme, no effect on phosphorylation
K470A/K497A/K507A
-
mutation leads to an decrease of enzyme activity in the medium to 17% of total activity compared to 25% of the wild-type enzyme, no effect on phosphorylation
K470A/K507A
-
mutation leads to an decrease of enzyme activity in the medium to 16% of total activity compared to 25% of the wild-type enzyme, no effect on phosphorylation
K497A
-
mutation leads to an decrease of enzyme activity in the medium to 19% of total activity compared to 25% of the wild-type enzyme, no effect on phosphorylation
K497A/K507A
-
mutation leads to an decrease of enzyme activity in the medium to 18% of total activity compared to 25% of the wild-type enzyme, no effect on phosphorylation
K507A
-
mutation leads to an decrease of enzyme activity in the medium to 23% of total activity compared to 25% of the wild-type enzyme, no effect on phosphorylation
L472P
-
mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability
L498P
-
mutation in MPS IV patient
L82R
-
mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability
P313A
-
mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability
R315X
-
a narturally occuring mutationiin exon 5 of the ARSB gene causing reduced enzyme activity
R95Q
-
mutation in MPS IV patient
S240F
-
mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability
T92M
-
mutation in MPS IV patient
Y138C
-
mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability
C405Y
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation L236P, mild phenotype
C405Y
associated with the attenuated phenotype of mucopolysaccharidosis type VI
C521Y
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype. Second mutation R152W, intermediate phenotype
C521Y
causes large structural changes, associated with the severe phenotype of mucopolysaccharidosis type VI
C91S
catalytically inactive enzyme can be converted into an active enzyme form by vanadate and light
C91S
present at significantly higher levels in conditioned media when compared with the wild type
G137V
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
G137V
causes small structural changes, associated with the attenuated phenotype of mucopolysaccharidosis type VI
G144R
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype
G144R
causes large structural changes, associated with the severe phenotype of mucopolysaccharidosis type VI
G302R
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype
G302R
associated with the severe phenotype of mucopolysaccharidosis type VI
H393P
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation R95Q, severe phenotype. Second mutation Y210C, intermediate phenotype
H393P
causes large structural changes, associated with the severe phenotype of mucopolysaccharidosis type VI
L360P
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation R152W and S384N, mild phenotype
L360P
associated with the attenuated phenotype of mucopolysaccharidosis type VI
L98P
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation 245delT, intermediate phenotype
L98P
associated with the attenuated phenotype of mucopolysaccharidosis type VI
P116H
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype
P116H
associated with the severe phenotype of mucopolysaccharidosis type VI
P531R
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, mild phenotype
P531R
associated with the attenuated phenotype of mucopolysaccharidosis type VI
R152W
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation 237-243delGGTGCTC or C521Y, intermediate phenotype. Second mutation L360P or S384N, mild phenotype
R152W
associated with the attenuated phenotype of mucopolysaccharidosis type VI
R95Q
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation H393P, severe phenotype
R95Q
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutazion Y210C alleles, mild phenotype
R95Q
causes large structural changes, associated with the severe phenotype of mucopolysaccharidosis type VI
S384N
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype
S384N
associated with the severe phenotype of mucopolysaccharidosis type VI
S65F
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, intermediate phenotype
S65F
associated with the attenuated phenotype of mucopolysaccharidosis type VI
W146L
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, svere phenotype
W146L
associated with the severe phenotype of mucopolysaccharidosis type VI
W146R
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype
W146R
associated with the severe phenotype of mucopolysaccharidosis type VI
W146S
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, mild phenotype
W146S
associated with the severe phenotype of mucopolysaccharidosis type VI
Y210C
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation H393P, intermediate phenotype. Second mutation R95Q, mild phenotype
Y210C
causes small structural changes, associated with the attenuated phenotype of mucopolysaccharidosis type VI
Y210C
-
mutation in MPS IV patient
Y210C
-
the enzyme is synthesized at a comparable molecular size and amount to wild-type enzyme. 33% of the intracellular Y210C mutant enzyme remains as a precursor form, for at least 8 h post labeling and is not processed to the mature lysosomal form. A significant amount of the mutant enzyme escapes the endoplasmic reticulum and is either secreted from the expression cells or underwent delayed intracellular traffic. The mutant enzyme is inactivated and degraded at an enhanced rate in the lysosomal compartment
additional information
the vast majority of mucopolysaccharidosis type VI mutant alleles are either unique to a patient or are present in a small number of patients
additional information
-
the vast majority of mucopolysaccharidosis type VI mutant alleles are either unique to a patient or are present in a small number of patients
additional information
a homozygous deletion of exon 4 is observed in a 5-year-old girl who presented with an exaggerated, convex curvature of the back at the age of one year. The mutation leads to abnormal excretion of dermatan sulfate in the urine and extremely low leukocyte ARSB activity. The deletion leads to a truncated protein that lacks most of the catalytic domain. The patient received recombinant human ARSB as enzyme replacement therapy at an early stage (2 years), and responded positively in terms of skeletal development and other developmental milestones
additional information
-
a homozygous deletion of exon 4 is observed in a 5-year-old girl who presented with an exaggerated, convex curvature of the back at the age of one year. The mutation leads to abnormal excretion of dermatan sulfate in the urine and extremely low leukocyte ARSB activity. The deletion leads to a truncated protein that lacks most of the catalytic domain. The patient received recombinant human ARSB as enzyme replacement therapy at an early stage (2 years), and responded positively in terms of skeletal development and other developmental milestones
additional information
-
a large deletion, c.899-1142del, e.iminates the whole exon5, the large deletion mutation g.99367-102002del involves exon 5 and parts of introns 4 and 5 of the arylsulfatase B gene leading to a frameshift and causing apparent homozygosity in a mucopolysaccharidosis type VI patient
additional information
-
ASB silencing and overexpression are associated with alterations in syndecan-1 and decorin expression in MCF-7 cells and in IL-8 secretion in human bronchial epithelial cells. Silencing or overexpression of ASB in normal rat kidney epithelial cells in tissue culture modified the content of total sulfated glycosaminoglycans, chondroitin 4-sulfate, kininogen, and bradykinin in spent media and cell lysates. When ASB is overexpressed, the cellular kininogen that associated with C4S declines
additional information
-
ASB silencing in IB3-1 and C38 bronchial epithelial cell lines and in primary bronchial epithelial cells, leading to reduced ASB activity, chondroitin 4-sulfate content, and increased interleukin-8 content associated to the cell membranes instead of secreted. Neutrophil attraction to the cell lysate is increased in ABS silencing, overview
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Arylsulfatase B regulates colonic epithelial cell migration by effects on MMP9 expression and RhoA activation
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brenda
Bhattacharyya, S.; Feferman, L.; Tobacman, J.K.
Chondroitin sulfatases differentially regulate Wnt signaling in prostate stem cells through effects on SHP2, phospho-ERK1/2, and Dickkopf Wnt signaling pathway inhibitor (DKK3)
Oncotarget
8
242-260
2017
Homo sapiens (P15848), Homo sapiens
brenda
Bhattacharyya, S.; Feferman, L.; Tobacman, J.
Inhibition of phosphatase activity follows decline in sulfatase activity and leads to transcriptional effects through sustained phosphorylation of transcription factor MITF
PLoS ONE
11
e0153463
2016
Homo sapiens (P15848), Mus musculus (P50429)
brenda
Bhattacharyya, S.; Feferman, L.; Tobacman, J.
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
Prostate
79
689-700
2019
Homo sapiens (P15848)
brenda
Bhattacharyya, S.; Feferman, L.; Tobacman, J.K.
Effect of CFTR modifiers on arylsulfatase B activity in cystic fibrosis and normal human bronchial epithelial cells
Pulm. Pharmacol. Ther.
36
22-30
2016
Homo sapiens (P15848)
brenda
Lin, W.D.; Ke, Y.Y.; Chou, I.C.; Wang, C.H.; Tsai, F.J.
Deletion of exon 4 in the N-acetylgalactosamine-4-sulfatase gene in a Taiwanese patient with mucopolysaccharidosis type VI
Tohoku J. Exp. Med.
235
267-273
2015
Homo sapiens (P15848), Homo sapiens
brenda