GBA mutation promotes early mitochondrial dysfunction in 3D neurosphere models

摘要

Glucocerebrosidase ( ) mutations are the most important genetic risk factor for the development of Parkinson disease (PD). encodes the lysosomal enzyme glucocerebrosidase (GCase). Loss-of-GCase activity in cellular models has implicated lysosomal and mitochondrial dysfunction in PD disease pathogenesis, although the exact mechanisms remain unclear. We hypothesize that mutations impair mitochondria quality control in a neurosphere model.