A dual-functional substrate for quantitation of substrate levels and GCase activity in living cells.

ABSTRACT: Loss of function mutations in the gene GBA1, which encodes the lysosomal glycoside hydrolase β-glucocerebrosidase (GCase) cause Gaucher's disease (GD). Moreover, one mutant allele of GBA1 is the most common genetic risk factor for the development of Parkinson's disease (PD). To gain a better understanding how these mutations drive development of PD and how GCase is regulated within cells, the field needs chemical reporters of GCase activity that can be used within living cells. Fluorogenic substrates are one method that can be used to quantify enzyme activities within cells yet existing substrates for GCase have limitations. In particular, the inability to monitor cellular uptake of substrate limits the ability to disentangle impairments in uptake of substrate from impairment

SUBMITTER: Tiet B 

PROVIDER: S-EPMC12223415 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature