Mechanisms of Glucocerebrosidase Dysfunction in Parkinson’s Disease
Diptaman Chatterjee, Dimitri Krainc
Abstract
Beta-glucocerebrosidase is a lysosomal hydrolase, encoded by GBA1 that represents the most common risk gene associated with Parkinson's disease (PD) and Lewy Body Dementia. Glucocerebrosidase dysfunction has been also observed in the absence of GBA1 mutations across different genetic and sporadic forms of PD and related disorders, suggesting a broader role of glucocerebrosidase in neurodegeneration. In this review, we highlight recent advances in mechanistic characterization of glucocerebrosidase function as the foundation for development of novel therapeutics targeting glucocerebrosidase in PD and related disorders.
Topics & Concepts
GlucocerebrosidaseParkinson's diseaseLewy bodyNeurodegenerationDiseaseNeuroscienceDementiaMedicineBioinformaticsBiologyInternal medicineLysosomal Storage Disorders ResearchParkinson's Disease Mechanisms and TreatmentsCellular transport and secretion