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Eur J Hum Genet. 2003 May;11(5):369-74.

Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system.

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  • 1Center for Integrated Genomics and Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Ke Karlovu 2, Praha 2, 128 08, Czech Republic.


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.

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