ArticleJournal of inherited metabolic disease2006
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.
Article in Journal of inherited metabolic disease, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- iPS-derived neural stem cells for disease modeling and evaluation of therapeutics for mucopolysaccharidosis type II.Experimental cell research · 2022Article
- Loss of Function of Mutant IDS Due to Endoplasmic Reticulum-Associated Degradation: New Therapeutic Opportunities for Mucopolysaccharidosis Type II.International journal of molecular sciences · 2021Review
- Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) - Case series.Molecular genetics and metabolism reports · 2021Article
- Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting.JIMD reports · 2021Article
- Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.International journal of molecular sciences · 2020Review
- Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II.Cell death & disease · 2018Article
- SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.Clinical genetics · 2018Article
- Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.Nature communications · 2017Article
- Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.PloS one · 2016Article
- Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.JIMD reports · 2015Article
- A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients.Korean journal of pediatrics · 2012Article
- Article
- Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.Journal of inherited metabolic disease · 2008Article
- Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.Journal of inherited metabolic disease · 2007Article
Corrections and comments
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8 authors.
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Abstract
Mucopolysaccharidosis II (Hunter disease), a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS), has variable clinical phenotypes. Nearly 300 different mutations have been identified in the IDS gene from patients with Hunter disease, but the correlation between the genotype and phenotype has remained unclear. We studied the characteristics of 11 missense mutations, which were detected in the patients or artificially introduced, using stable expression experiments and structural analysis. The mutants found in the attenuated phenotype showed considerable residual activity (0.2-2.4% of the wild-type IDS activity) and those in the severe phenotype had no activity. In immunoblot analysis, both the 73-75 kDa precursor and processed forms were detected in the expression of 'attenuated' mutants (R48P, A85T and W337R) and the artificial active site mutants (C84S, C84T). The 73-75 kDa initial precursor was detected in the 'severe' mutants (P86L, S333L, S349I, R468Q, R468L). The truncated 68 kDa precursor form was synthesized in the Q531X mutant. The results of immunoblotting indicated rapid degradation and/or insufficiency in processing as a result of structural alteration of the IDS protein. A combination of analyses of genotype and molecular phenotypes, including enzyme activity, protein processing and structural analysis with an engineered reference protein, could provide an avenue to understanding the molecular mechanism of the disease and could give a useful tool for the evaluation of possible therapeutic chemical compounds.
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