Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 623-626

  Mitobe, Sayuri ^a   Togawa, Tadayasu ^a   Tsukimura, Takahiro ^a   Kodama, Takashi ^a   Tanaka, Toshie ^a   Doi, Kent ^b   Noiri, Eisei ^b   Akai, Yasuhiro ^c   Saito, Yoshihiko ^c   Yoshino, Makoto ^d   Takenaka, Toshihiro ^e   Saito, Seiji ^f   Ohno, Kazuki ^g   Sakuraba, Hitoshi ^a  

^a MEIJI PHARMACEUTICAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c NARA MEDICAL UNIVERSITY   (Japan)

^d KURUME UNIVERSITY   (Japan)

^e KAGOSHIMA UNIVERSITY   (Japan)

^f HOKKAIDO INFORMATION UNIVERSITY   (Japan)

^g NPO for Intellectual Property Tokyo   (Japan)

Author keywords

Galactosidase A; Fabry disease; Globotriaosylceramide; Globotriaosylsphingosine; Missense mutation; Structural modeling

Indexed keywords

ALPHA GALACTOSIDASE; BIOLOGICAL MARKER; GLOBOTRIAOSYLSPHINGOSINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; ENZYME CONFORMATION; FABRY DISEASE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; JAPANESE; MALE; PHENOTYPE; PLASMA GLOBOTRIAOSYLSPHINGOSINE LEVEL; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; ALPHA-GALACTOSIDASE; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; FABRY DISEASE; FEMALE; GLYCOLIPIDS; HUMANS; ISOLEUCINE; MALE; METHIONINE; MIDDLE AGED; MUTATION; PHENOTYPE; SPHINGOLIPIDS;

EID: 84867896530     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.07.003     Document Type: Article

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