A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report [PDF]
Frontiers in Genetics, 2020 RationaleMucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
Caio Perez Gomes +7 more
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Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene [PDF]
Stem Cell Research, 2019 Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 2-sulfatase (I2S).
Junjie Hong +8 more
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Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants [PDF]
Human GenomicsPurpose Mucopolysaccharidosis type II (MPS II) is a rare X-linked lysosomal storage disorder caused by genetic alterations in the iduronate 2-sulfatase (IDS) gene. A wide range of variants has been reported for different countries and ethnic groups.
Alessandra Zanetti +2 more
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Rescue of neurologic disease in mucopolysaccharidosis type II mice via AAV-mediated liver delivery of brain-penetrating iduronate-2-sulfatase [PDF]
NeurotherapeuticsMucopolysaccharidosis type II (MPS II) is a neurodegenerative lysosomal storage disorder (LSD) caused by inherited mutations in the iduronate-2-sulfatase (IDS) gene.
Xiu Jin +15 more
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Protein-coding genes in humans and model mammals (mouse, rat and pig): gene identifiers and disambiguation of gene nomenclature retrieved from the Ensembl genome browser [PDF]
BMC GenomicsBackground Gene nomenclature contains current official symbols and various numbers of synonyms, which pose a challenge to integrating genomic data and increase the probability that different genes share the same symbol.
Grzegorz R. Juszczak +3 more
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Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome. [PDF]
JIMD Rep, 2015 Mucopolysaccharidosis type II (MPSII), also known as Hunter syndrome, is an X-linked disorder caused by mutations in the iduronate 2 sulfatase (IDS) gene. This enzyme catalyzes the initial step in the catabolism of heparan sulfate and dermatan sulfate; thus, its deficiency leads to the accumulation of these glycosaminoglycans.
Galvis J +3 more
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Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II [PDF]
Data in Brief, 2015 This data article contains insights into the methodology used for the analysis of three exonic mutations altering the splicing of the IDS gene: c.241C>T, c.257C>T and c.1122C>T.
Liliana Matos +8 more
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IDconverter and IDClight: Conversion and annotation of gene and protein IDs [PDF]
BMC Bioinformatics, 2007 Background Researchers involved in the annotation of large numbers of gene, clone or protein identifiers are usually required to perform a one-by-one conversion for each identifier.
Díaz-Uriarte Ramón +3 more
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Biology, 2022 The increasing incorporation of omics technologies into biomedical research and translational medicine presents challenges to end users of the large and complex datasets that are generated by these methods.
Joshua D. Breidenbach +3 more
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Sustained long-term disease correction in a murine model of MPSII following stem cell gene therapy
Molecular Therapy: Methods & Clinical Development, 2023 Mucopolysaccharidosis type II (MPSII) is a pediatric lysosomal storage disease caused by deficiencies in the IDS (iduronate-2-sulfatase) gene resulting in accumulation of glycosaminoglycans, multisystem disease, and profound neurodegeneration in severe ...
Stuart Ellison +9 more
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