Evaluation of Strategies for Measuring Lysosomal Glucocerebrosidase Activity.

ABSTRACT: Mutations in GBA1, which encode for the protein glucocerebrosidase (GCase), are the most common genetic risk factor for Parkinson's disease and dementia with Lewy bodies. In addition, growing evidence now suggests that the loss of GCase activity is also involved in onset of all forms of Parkinson's disease, dementia with Lewy bodies, and other dementias, such as progranulin-linked frontal temporal dementia. As a result, there is significant interest in developing GCase-targeted therapies that have the potential to stop or slow progression of these diseases. Despite this interest in GCase as a therapeutic target, there is significant inconsistency in the methodology for measuring GCase enzymatic activity in disease-modeling systems and patient populations, which could hinder progress in dev

SUBMITTER: Ysselstein D 

PROVIDER: S-EPMC8853444 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature