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

Volumn 29, Issue 6, 2006, Pages 755-761

  Sukegawa Hayasaka, K ^a   Kato, Z ^a,b,c   Nakamura, H ^d   Tomatsu, S ^a,e   Fukao, T ^a   Kuwata, K ^b   Orii, T ^f   Kondo, N ^a,b  

^a GIFU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b GIFU UNIVERSITY   (Japan)

^c HARVARD UNIVERSITY   (United States)

^d OSAKA UNIVERSITY   (Japan)

^e SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f CHUBU GAKUIN UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCEROL; IDURONATE 2 SULFATASE; TREHALOSE;

ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME STRUCTURE; GENE MUTATION; GENOTYPE; HUMAN; HUNTER SYNDROME; IMMUNOBLOTTING; MISSENSE MUTATION; MOLECULAR GENETICS; MOLECULAR MECHANICS; PHENOTYPE; PROTEIN DEGRADATION; PROTEIN ENGINEERING; PROTEIN EXPRESSION; PROTEIN PROCESSING; STRUCTURE ANALYSIS; WILD TYPE;

ANIMALS; CELL LINE; CHO CELLS; CRICETINAE; GENOTYPE; HUMANS; IDURONATE SULFATASE; IMMUNOBLOTTING; MODELS, MOLECULAR; MUCOPOLYSACCHARIDOSIS II; MUTATION; PHENOTYPE; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTEIN STRUCTURE, TERTIARY;

EID: 33751040150     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0440-7     Document Type: Article

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