Results 161 to 170 of about 2,564 (175)
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Molecular analysis of the iduronate‐2‐sulfatase gene in Thai patients with Hunter syndrome
Journal of Inherited Metabolic Disease, 2008SummaryMolecular defects in the gene encoding the enzyme iduronate‐2‐sulfatase (IDS) result in Hunter disease (mucopolysaccharidosis type II, MPS II). To determine the molecular basis of MPS II in Thailand, the IDS gene was analysed in 20 Thai patients with Hunter syndrome from 18 unrelated families.
S, Keeratichamroen +11 more
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Role of iduronate-2-sulfatase in glucose-stimulated insulin secretion by activation of exocytosis
American Journal of Physiology-Endocrinology and Metabolism, 2009Iduronate-2-sulfatase (IDS) is a lysosomal enzyme expressed in pancreatic islets responsible for the degradation of proteoglycans such as perlecan and dermatan sulfate. Previous findings of our group demonstrated the involvement of IDS in the normal pathway of lysosomal degradation of secretory peptides, suggesting a role of this enzyme in β-cell ...
S, Piquer +6 more
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Biotechnology and Applied Biochemistry, 2018
AbstractHunter syndrome (Mucopolysaccharidosis II, MPS II) is an X‐linked lysosomal storage disease produced by the deficiency of the lysosomal enzyme iduronate‐2‐sulfatase (IDS). Currently, MPS II patients are mainly treated with enzyme replacement therapy (ERT) using recombinant enzymes produced in mammalian cells.
Natalia Pimentel +13 more
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AbstractHunter syndrome (Mucopolysaccharidosis II, MPS II) is an X‐linked lysosomal storage disease produced by the deficiency of the lysosomal enzyme iduronate‐2‐sulfatase (IDS). Currently, MPS II patients are mainly treated with enzyme replacement therapy (ERT) using recombinant enzymes produced in mammalian cells.
Natalia Pimentel +13 more
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Human Mutation, 1994
Genomic DNA and cDNA from fibroblasts from nine unrelated German patients with X-linked iduronate-2-sulfatase (IDS) deficiency showing variable clinical manifestation were screened for point mutations and small structural aberrations. Direct sequencing revealed a splice mutation skipping exon A, one nonsense mutation, and five missense mutations ...
W, Schröder +4 more
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Genomic DNA and cDNA from fibroblasts from nine unrelated German patients with X-linked iduronate-2-sulfatase (IDS) deficiency showing variable clinical manifestation were screened for point mutations and small structural aberrations. Direct sequencing revealed a splice mutation skipping exon A, one nonsense mutation, and five missense mutations ...
W, Schröder +4 more
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Improved brain uptake and efficacy of iduronate 2-sulfatase with the enzyme transport vehicle
Molecular Genetics and Metabolism, 2019Most lysosomal storage diseases (LSDs) involve progressive central nervous system (CNS) impairment resulting from deficiency in one or more lysosomal enzymes. Treatment of neuronopathic LSDs remains a considerable challenge, as the recombinant enzymes approved to treat these conditions are ineffective in modifying CNS disease because they do not ...
Anastasia G. Henry +24 more
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evaluation of a human recombinant iduronate-2-sulfatase produces in the yeast
Molecular Genetics and Metabolism, 2023María C. Duarte +2 more
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A novel functional role of iduronate-2-sulfatase in zebrafish early development
2009A novel functional role of iduronate-2-sulfatase in zebrafish early ...
MORO, ENRICO +7 more
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Generation of therapeutic iduronate-2-sulfatase enzyme using a novel RNA virus vector
Molecular Genetics and Metabolism, 2022Ryuichi Mashima +3 more
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Site-directed mutagenesis of iduronate-2-sulfatase gene
1997G. R. D. VILLANI +3 more
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