Associated Papers
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.
Zanetti A et al.
Human Genomics, 2024
39617925 (PubMed )
Supplement: 40246_2024_701_MOESM1_ESM.xlsx › TableS3_UniquePointVariants
Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II.
Osaki Y et al.
Cell Death & Disease, 2018
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.
Demydchuk M et al.
Nature Communications, 2017
28593992 (PubMed )
Supplement: ncomms15786-s1.pdf
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Saito S et al.
Plos One, 2016
Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient.
Lau KC et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.
Sukegawa-Hayasaka K et al.
Journal of Inherited Metabolic Disease, 2006
Mucopolysaccharidosis type II--genotype/phenotype aspects.
Froissart R et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 2002
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.
Froissart R et al.
Clinical Genetics, 1998
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
Isogai K et al.
Journal of Inherited Metabolic Disease, 1998
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
Sukegawa K et al.
Human Mutation, 1995
Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
Hopwood JJ et al.
Human Mutation, 1993
[The degradation of mutant proteins by ERAD and the pathogenesis of diseases.]
Osaki Y et al.
Clinical Calcium, 0
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