Article
GBA mutations, glucosylceramide and Parkinson's disease.
Current opinion in neurobiology - 1 Feb 2022
Milenkovic Ivan, Blumenreich Shani, Futerman Anthony H
Abstract excerpt
Mutations in GBA, which encodes the lysosomal enzyme glucocerebrosidase, are the highest genetic risk factor for Parkinson's disease (PD), although the mechanistic link between GBA mutations and PD is unknown. An attractive hypothesis is that the lipid substrate of glucocerebrosidase, glucosylceramide, accumulates in patients with PD with a GBA mutation (PD-GBA). Despite the availability of new and accurate...
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