A versatile fluorescence-quenched substrate for quantitative measurement of glucocerebrosidase activity within live cells.

ABSTRACT: Loss of activity of the lysosomal glycosidase β-glucocerebrosidase (GCase) causes the lysosomal storage disease Gaucher disease (GD) and has emerged as the greatest genetic risk factor for the development of both Parkinson disease (PD) and dementia with Lewy bodies. There is significant interest into how GCase dysfunction contributes to these diseases, however, progress toward a full understanding is complicated by presence of endogenous cellular factors that influence lysosomal GCase activity. Indeed, such factors are thought to contribute to the high degree of variable penetrance of GBA mutations among patients. Robust methods to quantitatively measure GCase activity within lysosomes are therefore needed to advance research in this area, as well as to develop clinical assays to mo

SUBMITTER: Deen MC 

PROVIDER: S-EPMC9304032 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature