Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: Insight into mucopolysaccharidosis type VI

Molecular Genetics and Metabolism

Volumn 93, Issue 4, 2008, Pages 419-425

  Saito, Seiji ^a   Ohno, Kazuki ^b   Sugawara, Kanako ^c   Sakuraba, Hitoshi ^c,d  

^a UNIVERSITY OF TOKYO   (Japan)

^b TOKYO INSTITUTE OF TECHNOLOGY   (Japan)

^c MEIJI PHARMACEUTICAL UNIVERSITY   (Japan)

^d JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

Gene mutation; Maroteaux Lamy syndrome; Mucopolysaccharidosis type VI; N Acetylgalactosamine 4 sulfatase; Protein structure

Indexed keywords

AMINO ACID; N ACETYLGALACTOSAMINE 4 SULFATASE; SOLVENT;

AMINO ACID SUBSTITUTION; ARTICLE; ATOM; CALCULATION; COMPARATIVE STUDY; GENE; GENE MUTATION; IMAGING; MORQUIO SYNDROME; OUTCOME ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN STRUCTURE; STRUCTURE ANALYSIS;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; HUMANS; MODELS, MOLECULAR; MUCOPOLYSACCHARIDOSIS VI; MUTATION, MISSENSE; N-ACETYLGALACTOSAMINE-4-SULFATASE;

EID: 40849135631     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.11.017     Document Type: Article

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