Article
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.
Journal of inherited metabolic disease - 1 Dec 2006
Sukegawa-Hayasaka K, Kato Z, Nakamura H, Tomatsu S, Fukao T, Kuwata K, Orii T, Kondo N
Abstract excerpt
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...
Topics
- Animals
- CHO Cells
- Cell Line
- Cricetinae
- Genotype
- Humans
- Iduronate Sulfatase
- Immunoblotting
- Models, Molecular
- Mucopolysaccharidosis II
- Mutation
- Phenotype
- Protein Processing, Post-Translational