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Disease on EC 3.10.1.1 - N-sulfoglucosamine sulfohydrolase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Alzheimer Disease
Is SGSH heterozygosity a risk factor for early-onset neurodegenerative disease?
arylsulfatase (type i) deficiency
Genetic complementation studies of multiple sulfatase deficiency.
Pathologic findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies.
beta-glucuronidase deficiency
Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones.
beta-Mannosidosis
Complementation studies in human and caprine beta-mannosidosis.
Deficiency Diseases
Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?
Genetic Diseases, Inborn
High and prolonged sulfamidase secretion by the liver of MPS-IIIA mice following hydrodynamic tail vein delivery of antibiotic-free pFAR4 plasmid vector.
Infections
Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse Brain.
Intellectual Disability
Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA.
Leukemia
Correction of Sanfilippo A skin fibroblasts by retroviral vector-mediated gene transfer.
Lysosomal Storage Diseases
A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).
An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA.
An Improved Adeno-Associated Virus Vector for Neurological Correction of the Mouse Model of Mucopolysaccharidosis IIIA.
Broad Functional Correction of Molecular Impairments by Systemic Delivery of scAAVrh74-hSGSH Gene Delivery in MPS IIIA Mice.
Liver production of sulfamidase reverses peripheral and ameliorates CNS pathology in mucopolysaccharidosis IIIA mice.
Overcoming Limitations Inherent in Sulfamidase to Improve Mucopolysaccharidosis IIIA Gene Therapy.
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.
Memory Disorders
Overcoming Limitations Inherent in Sulfamidase to Improve Mucopolysaccharidosis IIIA Gene Therapy.
Mucopolysaccharidoses
A boy with mucopolysaccharidosis type II accompanied with a novel variation in heparan-N-sulfatase.
A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA.
A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).
A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome.
A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family.
A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA.
A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA.
A Preclinical Study Evaluating AAVrh10-Based Gene Therapy for Sanfilippo Syndrome.
AAVrh10 Vector Corrects Disease Pathology in MPS IIIA Mice and Achieves Widespread Distribution of SGSH in Large Animal Brains.
Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice.
An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA.
An Improved Adeno-Associated Virus Vector for Neurological Correction of the Mouse Model of Mucopolysaccharidosis IIIA.
Analysis of Sanfilippo A gene mutations in a large pedigree.
Brain Targeting in MPS-IIIA.
Broad Functional Correction of Molecular Impairments by Systemic Delivery of scAAVrh74-hSGSH Gene Delivery in MPS IIIA Mice.
Correction of mucopolysaccharidosis type IIIA somatic and central nervous system pathology by lentiviral-mediated gene transfer.
Correction of pathological accumulation of glycosaminoglycans in CNS and peripheral tissues of MPSIIIA mice through systemic AAV9 gene transfer.
Correction of Sanfilippo A skin fibroblasts by retroviral vector-mediated gene transfer.
Diagnosis of Sanfilippo type A syndrome by estimation of sulfamidase activity using a radiolabelled tetrasaccharide substrate.
Directed differentiation and characterization of genetically modified embryonic stem cells for therapy.
Distribution of Heparan Sulfate Oligosaccharides in Murine Mucopolysaccharidosis Type IIIA.
Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs-A proof of principle study.
Enhancing the Therapeutic Potential of Sulfamidase for the Treatment of Mucopolysaccharidosis IIIA.
Enzyme replacement reduces neuropathology in MPS IIIA dogs.
Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease.
Exocytosis is impaired in mucopolysaccharidosis IIIA mouse chromaffin cells.
Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome.
Expression and functional characterization of human mutant sulfamidase in insect cells.
Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field test.
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes.
Gastrointestinal pathology in a mouse model of mucopolysaccharidosis type IIIA.
Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mapping.
Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA.
Genetic manipulation of murine embryonic stem cells with enhanced green fluorescence protein and sulfatase-modifying factor I genes.
Glycosaminoglycan levels and structure in a mucopolysaccharidosis IIIA mice and the effect of a highly secreted sulfamidase engineered to cross the blood-brain barrier.
Guanidinylated Neomycin Conjugation Enhances Intranasal Enzyme Replacement in the Brain.
Helper-dependent canine adenovirus vector-mediated transgene expression in a neurodegenerative lysosomal storage disorder.
Hematopoietic Stem Cell and Gene Therapy Corrects Primary Neuropathology and Behavior in Mucopolysaccharidosis IIIA Mice.
Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group.
Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.
High and prolonged sulfamidase secretion by the liver of MPS-IIIA mice following hydrodynamic tail vein delivery of antibiotic-free pFAR4 plasmid vector.
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).
Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs.
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
Impact of high-dose, chemically modified sulfamidase on pathology in a murine model of MPS IIIA.
Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA.
Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice.
Insulin receptor antibody-sulfamidase fusion protein penetrates the primate blood-brain barrier and reduces glycosoaminoglycans in Sanfilippo type A cells.
Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA.
Intracisternal Enzyme Replacement Therapy in Lysosomal Storage Diseases: Routes of Absorption into Brain.
Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice.
Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.
Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA.
Liver production of sulfamidase reverses peripheral and ameliorates CNS pathology in mucopolysaccharidosis IIIA mice.
Low-dose, continuous enzyme replacement therapy ameliorates brain pathology in the neurodegenerative lysosomal disorder MPS IIIA.
Mannose 6-phosphate receptor-mediated transport of sulfamidase across the blood-brain barrier in the newborn mouse.
MPS-IIIA mice acquire autistic behaviours with age.
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.
Myeloid/Microglial Driven Autologous Hematopoietic Stem Cell Gene Therapy Corrects a Neuronopathic Lysosomal Disease.
N-butyldeoxynojirimycin treatment restores the innate fear response and improves learning in mucopolysaccharidosis IIIA mice.
Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA.
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
Overcoming Limitations Inherent in Sulfamidase to Improve Mucopolysaccharidosis IIIA Gene Therapy.
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.
Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients.
Purification and characterization of recombinant murine sulfamidase.
Reduction in Brain Heparan Sulfate with Systemic Administration of an IgG Trojan Horse-Sulfamidase Fusion Protein in the Mucopolysaccharidosis Type IIIA Mouse.
Retinal Degeneration in MPS-IIIA Mouse Model.
SGSH gene transfer in mucopolysaccharidosis type IIIA mice using canine adenovirus vectors.
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).
Sulphamidase activity in leucocytes, cultured skin fibroblasts and amniotic cells: diagnosis of the Sanfilippo A syndrome with the use of radiolabelled disaccharide substrate.
Sulphamidase.
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.
Validation of a heparan sulfate-derived disaccharide as a marker of accumulation in murine mucopolysaccharidosis type IIIA.
Variables influencing fluorimetric N-sulfoglucosamine sulfohydrolase (SGSH) activity measurement in brain homogenates.
Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy.
Mucopolysaccharidosis I
Mucopolysaccharide diseases: A complex interplay between neuroinflammation, microglial activation and adaptive immunity.
Mucopolysaccharidosis II
A boy with mucopolysaccharidosis type II accompanied with a novel variation in heparan-N-sulfatase.
Mucopolysaccharidosis III
A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.
A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).
A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome.
A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant.
A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA.
A Preclinical Study Evaluating AAVrh10-Based Gene Therapy for Sanfilippo Syndrome.
A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.
AAVrh10 Vector Corrects Disease Pathology in MPS IIIA Mice and Achieves Widespread Distribution of SGSH in Large Animal Brains.
Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice.
An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA.
Analysis of Sanfilippo A gene mutations in a large pedigree.
Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII.
Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA.
Brain Targeting in MPS-IIIA.
Broad Functional Correction of Molecular Impairments by Systemic Delivery of scAAVrh74-hSGSH Gene Delivery in MPS IIIA Mice.
Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds.
Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.
Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse Brain.
Correction of mucopolysaccharidosis type IIIA somatic and central nervous system pathology by lentiviral-mediated gene transfer.
Correction of pathological accumulation of glycosaminoglycans in CNS and peripheral tissues of MPSIIIA mice through systemic AAV9 gene transfer.
Delivery of therapeutic protein for prevention of neurodegenerative changes: comparison of different CSF-delivery methods.
Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry.
Determination of the role of injection site on the efficacy of intra-CSF enzyme replacement therapy in MPS IIIA mice.
Directed differentiation and characterization of genetically modified embryonic stem cells for therapy.
Distribution of Heparan Sulfate Oligosaccharides in Murine Mucopolysaccharidosis Type IIIA.
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.
Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking ?-synuclein.
Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs-A proof of principle study.
Effect of high dose, repeated intra-CSF injection of sulphamidase on neuropathology in MPS IIIA mice.
Embryonic stem cell-derived glial precursors as a vehicle for sulfamidase production in the MPS-IIIA mouse brain.
Enhancing the Therapeutic Potential of Sulfamidase for the Treatment of Mucopolysaccharidosis IIIA.
Enzyme replacement reduces neuropathology in MPS IIIA dogs.
Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice.
Evaluation of enzyme dose and dose-frequency in ameliorating substrate accumulation in MPS IIIA Huntaway dog brain.
Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease.
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes.
Functional correction of neurological and somatic disorders at later stages of disease in MPS IIIA mice by systemic scAAV9-hSGSH gene delivery.
Gastrointestinal pathology in a mouse model of mucopolysaccharidosis type IIIA.
Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mapping.
Gene symbol: SGSH. Disease: Sanfilippo syndrome type A.
Genetic manipulation of murine embryonic stem cells with enhanced green fluorescence protein and sulfatase-modifying factor I genes.
Glycosaminoglycan levels and structure in a mucopolysaccharidosis IIIA mice and the effect of a highly secreted sulfamidase engineered to cross the blood-brain barrier.
Glycosaminoglycans and mucopolysaccharidosis type III.
Helper-dependent canine adenovirus vector-mediated transgene expression in a neurodegenerative lysosomal storage disorder.
Hematopoietic Stem Cell and Gene Therapy Corrects Primary Neuropathology and Behavior in Mucopolysaccharidosis IIIA Mice.
Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group.
Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.
High and prolonged sulfamidase secretion by the liver of MPS-IIIA mice following hydrodynamic tail vein delivery of antibiotic-free pFAR4 plasmid vector.
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).
Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands.
Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs.
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
Impact of chemical modification of sulfamidase on distribution to brain interstitial fluid and to CSF after an intravenous administration in awake, freely-moving rats.
Impact of high-dose, chemically modified sulfamidase on pathology in a murine model of MPS IIIA.
Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA.
In vitro characterization of genetically modified embryonic stem cells as a therapy for murine mucopolysaccharidosis type IIIA.
Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice.
Insulin receptor antibody-sulfamidase fusion protein penetrates the primate blood-brain barrier and reduces glycosoaminoglycans in Sanfilippo type A cells.
Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA.
Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.
Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice.
Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.
Lentiviral-mediated gene correction of mucopolysaccharidosis type IIIA.
Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA.
Liver production of sulfamidase reverses peripheral and ameliorates CNS pathology in mucopolysaccharidosis IIIA mice.
Low-dose, continuous enzyme replacement therapy ameliorates brain pathology in the neurodegenerative lysosomal disorder MPS IIIA.
Mannose 6-phosphate receptor-mediated transport of sulfamidase across the blood-brain barrier in the newborn mouse.
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.
Mucopolysaccharide diseases: A complex interplay between neuroinflammation, microglial activation and adaptive immunity.
Mucopolysaccharidosis 3 A (Sanfilippo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes.
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.
Myeloid/Microglial Driven Autologous Hematopoietic Stem Cell Gene Therapy Corrects a Neuronopathic Lysosomal Disease.
Neonatal Bone Marrow Transplantation in MPS IIIA Mice.
Neurodevelopmental Changes in Excitatory Synaptic Structure and Function in the Cerebral Cortex of Sanfilippo Syndrome IIIA Mice.
Neuroinflammatory and oxidative stress phenomena in MPS IIIA mouse model: The positive effect of long-term aspirin treatment.
Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA.
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
Overcoming Limitations Inherent in Sulfamidase to Improve Mucopolysaccharidosis IIIA Gene Therapy.
Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?
Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients.
Prenatal diagnosis of Sanfilippo syndrome type A by early amniocentesis.
Purification and characterization of recombinant murine sulfamidase.
Recombinant human sulphamidase: expression, amplification, purification and characterization.
Reduction in Brain Heparan Sulfate with Systemic Administration of an IgG Trojan Horse-Sulfamidase Fusion Protein in the Mucopolysaccharidosis Type IIIA Mouse.
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
Retinal Degeneration in MPS-IIIA Mouse Model.
Robust LC-MS/MS methods for analysis of heparan sulfate levels in CSF and brain for application in studies of MPS IIIA.
Sanfilippo A syndrome: sulfamidase deficiency in cultured skin fibroblasts and liver.
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report.
SGSH gene transfer in mucopolysaccharidosis type IIIA mice using canine adenovirus vectors.
Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA.
Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones.
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).
Sulphamidase.
Systemic scAAV9.U1a.hSGSH Delivery Corrects Brain Biochemistry in Mucopolysaccharidosis Type IIIA at Early and Later Stages of Disease.
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
Trans-generational exposure to low levels of rhodamine B does not adversely affect litter size or liver function in murine mucopolysaccharidosis type IIIA.
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
Validation of a heparan sulfate-derived disaccharide as a marker of accumulation in murine mucopolysaccharidosis type IIIA.
Variables influencing fluorimetric N-sulfoglucosamine sulfohydrolase (SGSH) activity measurement in brain homogenates.
Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy.
[Clinical and neuroradiological evaluation of the long-term surviving siblings of Sanfilippo syndrome A type]
Mucopolysaccharidosis VII
Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones.
Multiple Sulfatase Deficiency Disease
Genetic complementation studies of multiple sulfatase deficiency.
Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?
Pathologic findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies.
n-sulfoglucosamine sulfohydrolase deficiency
Complementation studies in human and caprine beta-mannosidosis.
Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice.
Neuroinflammatory and oxidative stress phenomena in MPS IIIA mouse model: The positive effect of long-term aspirin treatment.
Retinal Degeneration in MPS-IIIA Mouse Model.
Sanfilippo A syndrome: sulfamidase deficiency in cultured skin fibroblasts and liver.
Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones.
Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).
Sulphamidase activity in leucocytes, cultured skin fibroblasts and amniotic cells: diagnosis of the Sanfilippo A syndrome with the use of radiolabelled disaccharide substrate.
Validation of a heparan sulfate-derived disaccharide as a marker of accumulation in murine mucopolysaccharidosis type IIIA.
Neurodegenerative Diseases
Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking ?-synuclein.
Hematopoietic Stem Cell and Gene Therapy Corrects Primary Neuropathology and Behavior in Mucopolysaccharidosis IIIA Mice.
Molecular defects in Sanfilippo syndrome type A.
N-butyldeoxynojirimycin treatment restores the innate fear response and improves learning in mucopolysaccharidosis IIIA mice.
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.
Reduction in Brain Heparan Sulfate with Systemic Administration of an IgG Trojan Horse-Sulfamidase Fusion Protein in the Mucopolysaccharidosis Type IIIA Mouse.
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
Neuroinflammatory Diseases
An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA.
Correction of pathological accumulation of glycosaminoglycans in CNS and peripheral tissues of MPSIIIA mice through systemic AAV9 gene transfer.
Neuronal Ceroid-Lipofuscinoses
Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology.
Osteoporosis
Field Test Results of Sex- and Gender-Specific Health Multimedia Case-Based Learning Modules.
Pulmonary Disease, Chronic Obstructive
Expression, activity and localization of lysosomal sulfatases in Chronic Obstructive Pulmonary Disease.
Retinitis Pigmentosa
Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.
Stroke
Development of a PubMed Based Search Tool for Identifying Sex and Gender Specific Health Literature.