Transgenic mouse expressing human mutant α-galactosidase A in an endogenous enzyme deficient background: A biochemical animal model for studying active-site specific chaperone therapy for Fabry disease

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1690, Issue 3, 2004, Pages 250-257

  Ishii, Satoshi ^a,b   Yoshioka, Hidekatsu ^c   Mannen, Kazuaki ^c   Kulkarni, Ashok B ^d   Fan, Jian Qiang ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b Usuki shi   (Japan)

^c OITA UNIVERSITY   (Japan)

^d NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

Author keywords

Galactosidase A; 1 deoxygalactonojirimycin; Active site specific chaperone; Fabry disease; Transgenic

Indexed keywords

1 DEOXYGALACTONOJIRIMYCIN; ALPHA GALACTOSIDASE; CHAPERONE; ENZYME INHIBITOR; GLOBOTRIAOSYLCERAMIDE; GLYCOLIPID; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; ENZYME ACTIVITY; FABRY DISEASE; FEMALE; FIBROBLAST; HETEROZYGOSITY; HOMOZYGOSITY; MALE; MISSENSE MUTATION; MOUSE; NONHUMAN; PRIORITY JOURNAL; TRANSGENIC MOUSE;

1-DEOXYNOJIRIMYCIN; ALPHA-GALACTOSIDASE; ANIMALS; BINDING SITES; CELLS, CULTURED; DISEASE MODELS, ANIMAL; FABRY DISEASE; FIBROBLASTS; GENE THERAPY; HEART; HUMANS; MICE; MICE, KNOCKOUT; MICE, TRANSGENIC; MOLECULAR CHAPERONES; MUTATION; MYOCARDIUM; PROTEIN FOLDING; RNA, MESSENGER; SENSITIVITY AND SPECIFICITY; TRIHEXOSYLCERAMIDES;

ANIMALIA; MUS MUSCULUS;

EID: 7044284796     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2004.07.001     Document Type: Article

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