The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β-glucosidase

FEBS Journal

Volumn 277, Issue 7, 2010, Pages 1618-1638

  Khanna, Richie ^a   Benjamin, Elfrida R ^a   Pellegrino, Lee ^a   Schilling, Adriane ^a   Rigat, Brigitte A ^b   Soska, Rebecca ^a   Nafar, Hadis ^c   Ranes, Brian E ^a   Feng, Jessie ^a   Lun, Yi ^a   Powe, Allan C ^a   Palling, David J ^a   Wustman, Brandon A ^c   Schiffmann, Raphael ^d   Mahuran, Don J ^b   Lockhart, David J ^c   Valenzano, Kenneth J ^a  

^a Amicus Therapeutics   (United States)

^b HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^c Amicus Therapeutics   (United States)

^d BAYLOR RESEARCH INSTITUTE   (United States)

Author keywords

Gaucher disease; Isofagomine; L444P glucocerebrosidase; Lysosomal storage disorder; Pharmacological chaperone

Indexed keywords

BETA GLUCOSIDASE; CHAPERONE; CHITIN; CHITIN 3; GLUCOSYLCERAMIDE; GLYCOPROTEIN; IMMUNOGLOBULIN G; ISOFAGOMINE; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BLOOD LEVEL; BRAIN; CELL LYSATE; CONTROLLED STUDY; ENZYMATIC ASSAY; ENZYME ACTIVITY; FEMALE; FIBROBLAST; GAUCHER DISEASE; HUMAN; HUMAN CELL; LIVER WEIGHT; LYMPHOBLASTOID CELL LINE; LYSOSOME; MALE; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; RAT; SPLEEN WEIGHT; TISSUE DISTRIBUTION;

ANIMALS; BETA-GLUCOSIDASE; DOSE-RESPONSE RELATIONSHIP, DRUG; FIBROBLASTS; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; IMINO PYRANOSES; LYSOSOMAL STORAGE DISEASES; MALE; MICE; MICROSCOPY, CONFOCAL; MOLECULAR CHAPERONES; MUTATION; RATS; RATS, SPRAGUE-DAWLEY;

MURINAE; MUS;

EID: 77949643182     PISSN: 1742464X     EISSN: 17424658     Source Type: Journal    
DOI: 10.1111/j.1742-4658.2010.07588.x     Document Type: Article

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