Research summary
Mutations in the gene encoding for glucocerebrosidase are the greatest known genetic risk factor for developing Parkinson's disease. Glucocerebrosidase is a lysosomal enzyme involved in sphingolipid metabolism. Impairment of the autophagy-lysosomal pathway is implicated in the accumulation/aggregation of alpha-synuclein and the mitochondrial dysfunction observed in Parkinson's disease. I am investigating the mechanisms by which glucocerebrosidase deficiency contributes to aberrant function of the autophagy-lysosome pathway.