Assay of β-glucosidase 2 (GBA2) activity using lithocholic acid β-3-O-glucoside substrate for cultured fibroblasts and glucosylceramide for brain tissue.

Assay of β-glucosidase 2 (GBA2) activity using lithocholic acid β-3-O-glucoside substrate for cultured fibroblasts and glucosylceramide for brain tissue. Biol Chem. 2018 Dec 01;: Authors: Harzer K, Yildiz Y, Beck-Wödl S Abstract Beta-glucosidase 2 (GBA2) is deficient in a form of human spastic paraplegia due to defects in the GBA2 (SPG46) gene. GBA2 was proposed as a modifier of Gaucher disease (lysosomal storage disease by deficient β-glucosidase 1; GBA1). Described assays of GBA2 activity mostly used artificial substrates incompletely modelling the situation with natural substrates in vivo. We studied GBA2 activities in vitro, using lithocholic acid β-glucoside or glucosylceramide as natural β-glucosidase substrates in tissues or cultured fibroblasts from murine and human individuals with the pathologic genotypes: Gba1-/-; Gba2-/-; GBA1-/- ; GBA2+/- and found expected and unexpected deviations from normal controls. PMID: 30864417 [PubMed - as supplied by publisher]
Source: Biological Chemistry - Category: Chemistry Tags: Biol Chem Source Type: research