Mia Horowitz

GBA1 mutations as a role model for precision medicine in Parkinson’s disease

Abstract Genetic variants in GBA1 , encoding the lysosomal enzyme glucocerebrosidase (GCase), represent the strongest genetic risk factor for Parkinson’s disease (PD) and provide a mechanistic link between Gaucher disease (GD) and PD. While biallelic GBA1 mutations cause GD, hete...