Results 161 to 170 of about 2,595 (198)
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Human Molecular Genetics, 1993
Mutations of the iduronate-2-sulfatase gene were identified in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Together with another 10 cases reported by us earlier it emerges that about 20% of the patients have deletions of the whole gene or other major structural alterations.
Bunge, Susanna +8 more
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Mutations of the iduronate-2-sulfatase gene were identified in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Together with another 10 cases reported by us earlier it emerges that about 20% of the patients have deletions of the whole gene or other major structural alterations.
Bunge, Susanna +8 more
openaire +3 more sources
Biochemical and Biophysical Research Communications, 2019
Mucopolysaccharidosis type II (MPS II) is one of the most common mucopolysaccharidoses, which is caused by mutation of the gene encoding iduronate 2-sulfatase (IDS). The loss of function of IDS leads to the accumulation of heparan sulfate and dermatan sulfate of glycosaminoglycans throughout the body, resulting in skeletal deformities, mental ...
Yosuke Osaki +7 more
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Mucopolysaccharidosis type II (MPS II) is one of the most common mucopolysaccharidoses, which is caused by mutation of the gene encoding iduronate 2-sulfatase (IDS). The loss of function of IDS leads to the accumulation of heparan sulfate and dermatan sulfate of glycosaminoglycans throughout the body, resulting in skeletal deformities, mental ...
Yosuke Osaki +7 more
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Detection of four novel mutations in the iduronate-2-sulfatase gene
Human Mutation, 1998Hypochondroplasia and achondroplasia are skeletal dysplasias, characterized by autosomal dominant inheritance and disproportionate short stature, which occurs mainly due to growth failure of the extremities. Both dysplasias have been mapped to fibroblast growth factor receptor 3 (FGFR3) gene. For hypochondroplasia, two point mutations, both responsible
BALZANO N. +4 more
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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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