Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl

Proceedings of the National Academy of Sciences of the United States of America

Volumn 107, Issue 50, 2010, Pages 21665-21670

  Lu, Jie ^a   Chiang, Jeffrey ^b   Iyer, Rajiv R ^a   Thompson, Eli ^a   Kaneski, Christine R ^c   Xu, David S ^a   Yang, Chunzhang ^a   Chen, Masako ^a   Hodes, Richard J ^b   Lonser, Russell R ^a   Brady, Roscoe O ^a   Zhuang, Zhengping ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

^c BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CBL PROTEIN; CHAPERONIN CONTAINING TCP1; GLUCOSYLCERAMIDASE; LACTACYSTIN; SMALL INTERFERING RNA;

ARTICLE; ENZYME ACTIVITY; ENZYME DEFECT; GAUCHER DISEASE; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; IMMUNOFLUORESCENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; SKIN FIBROBLAST; WESTERN BLOTTING;

ACETYLCYSTEINE; CELL LINE; CHAPERONIN CONTAINING TCP-1; CYSTEINE PROTEINASE INHIBITORS; FIBROBLASTS; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; MOLECULAR CHAPERONES; PROTEASOME ENDOPEPTIDASE COMPLEX; PROTO-ONCOGENE PROTEINS C-CBL; RNA, SMALL INTERFERING;

EID: 78650750313     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1014376107     Document Type: Article

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