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- Title
Assay of β-glucosidase 2 (GBA2) activity using lithocholic acid β-3-O-glucoside substrate for cultured fibroblasts and glucosylceramide for brain tissue.
- Authors
Harzer, Klaus; Yildiz, Yildiz; Beck-Wödl, Stefanie
- Abstract
Beta (β)-glucosidase 2 (GBA2) is deficient in a form of human spastic paraplegia due to defects in GBA2 (SPG46). GBA2 was proposed as a modifier of Gaucher disease, a lysosomal storage disease resulting from deficient β-glucosidase 1; GBA1. Current GBA2 activity assays using artificial substrates incompletely model the activity encountered in vivo. We studied GBA2 activity, using lithocholic acid β-glucoside or glucosylceramide as natural β-glucosidase substrates in murine tissues or cultured patient fibroblasts with the pathologic genotypes: Gba1−/−; Gba2−/−; GBA1−/−; GBA2+/− and found expected and unexpected deviations from normal controls.
- Subjects
GLUCOSIDASES; LYSOSOMAL storage diseases; TISSUE culture; FIBROBLASTS
- Publication
Biological Chemistry, 2019, Vol 400, Issue 6, p745
- ISSN
1431-6730
- Publication type
Article
- DOI
10.1515/hsz-2018-0438