Fabry disease: Biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution

Molecular Genetics and Metabolism

Volumn 105, Issue 4, 2012, Pages 615-620

  Togawa, Tadayasu ^a   Tsukimura, Takahiro ^a   Kodama, Takashi ^a   Tanaka, Toshie ^a   Kawashima, Ikuo ^a,b   Saito, Seiji ^c   Ohno, Kazuki ^d   Fukushige, Tomoko ^e   Kanekura, Takuro ^e   Satomura, Atsushi ^f   Kang, Duk Hee ^g   Lee, Beom Hee ^h   Yoo, Han Wook ^h   Doi, Kent ⁱ   Noiri, Eisei ⁱ   Sakuraba, Hitoshi ^a  

^a MEIJI PHARMACEUTICAL UNIVERSITY   (Japan)

^b TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^c HOKKAIDO INFORMATION UNIVERSITY   (Japan)

^d NPO for Intellectual Property Tokyo   (Japan)

^e KAGOSHIMA UNIVERSITY   (Japan)

^f NIHON UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g Ewha Womans University School of Medicine   (South Korea)

^h University of Ulsan College of Medicine   (South Korea)

ⁱ UNIVERSITY OF TOKYO   (Japan)

Author keywords

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

Indexed keywords

ALPHA GALACTOSIDASE; GLOBOTRIAOSYLCERAMIDE; GLOBOTRIAOSYLSPHINGOSINE; SPHINGOSINE; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHEMICAL ANALYSIS; CLINICAL ARTICLE; CONFORMATIONAL TRANSITION; CONTROLLED STUDY; ELECTRON MICROSCOPY; ENZYME ACTIVITY; FABRY DISEASE; FIBROBLAST; HUMAN; HUMAN TISSUE; LEUKOCYTE; MALE; PATHOLOGY; PRIORITY JOURNAL; SKIN BIOPSY;

AGED; AGED, 80 AND OVER; ALPHA-GALACTOSIDASE; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CELLS, CULTURED; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FABRY DISEASE; FIBROBLASTS; HETEROZYGOTE; HUMANS; IMMUNOBLOTTING; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MODELS, MOLECULAR; MUTATION; PHENOTYPE; REAL-TIME POLYMERASE CHAIN REACTION; SKIN; TRIHEXOSYLCERAMIDES;

EID: 84862797726     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.01.010     Document Type: Article

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