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Article

Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.

Nature communications - 8 Jun 2017

Demydchuk Mykhaylo, Hill Chris H, Zhou Aiwu, Bunkóczi Gábor, Stein Penelope E, Marchesan Denis, Deane Janet E, Read Randy J

Abstract excerpt

Hunter syndrome is a rare but devastating childhood disease caused by mutations in the IDS gene encoding iduronate-2-sulfatase, a crucial enzyme in the lysosomal degradation pathway of dermatan sulfate and heparan sulfate. These complex glycosaminoglycans have important roles in cell adhesion, growth, proliferation and repair, and their degradation and recycling in the lysosome is essential for cellular...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28593992
DOI: 10.1038/ncomms15786
PMCID: PMC5472762

Genes

IDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

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Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.PMID 28593992Read ↗

Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.Semantic proximity Read ↗

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations.Semantic proximity Read ↗

Identification and structure characterization of novel IDS variants causing mucopolysaccharidosis type II: A retrospective analysis of 30 Chinese children.Semantic proximity Read ↗

A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome.Semantic proximity Read ↗

A molecular genetics view on Mucopolysaccharidosis Type II.Semantic proximity Read ↗

Mucopolysaccharidosis type II in tunisian families: IDS gene variations disrupting substrate binding and a novel deep intronic deletion reducing IDS expression.Semantic proximity Read ↗

Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.Semantic proximity Read ↗

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.Semantic proximity Read ↗

Subtle Cellular Phenotypes Inform Pathological and Benign Genetic Mutants in the Iduronidase-2 Sulfatase GeneSemantic proximity Read ↗

Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.Semantic proximity Read ↗

RNF13 is a novel interactor of iduronate 2-sulfatase that modifies its glycosylation and maturationSemantic proximity Read ↗

Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome.Semantic proximity Read ↗

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