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- Title
Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system.
- Authors
Hodanová, Katerina; Melková, Zora; Horowitz, Mia; Hrebícek, Martin
- Abstract
Gaucher disease, the most prevalent lysosomal storage disease, is characterised by a significant phenotypic variation caused by more than 150 mutations. In order to verify pathogenicity of mutations found in the Czech Gaucher population, the vaccinia expression system was used. The wild-type human beta-glucocerebrosidase cDNA and cDNAs carrying the mutations 72delC, 1326insT, 1263del55, S196P, N370S, L444P, G202E, D409H, T369M, L444P+V460V, and D409H+T369M were expressed in Gaucher fibroblast cell line (L444P/S107L), BSC40, and HeLa G cells. The enzymatic activity and immunological reactivity were analysed. Only beta-glucocerebrosidase-deficient fibroblasts were suitable for expression using plasmid transfection. The expressed beta-glucosidase activity of mutant glucocerebrosidases was in good correlation with the presumed severity of the mutations.
- Publication
European journal of human genetics : EJHG, 2003, Vol 11, Issue 5, p369
- ISSN
1018-4813
- Publication type
Journal Article
- DOI
10.1038/sj.ejhg.5200974