The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines

The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines
Hum Mol Genet. 2022 Sep 20:ddac233. doi: 10.1093/hmg/ddac233. Online ahead of print.ABSTRACTSequence variants or mutations in the GBA gene are numerically the most important risk factor for Parkinson disease (PD). The GBA gene encodes for the lysosomal hydrolase enzyme, glucocerebrosidase (GCase). GBA mutations often reduce GCase activity and lead to impairment of the autophagy-lysosomal pathway, which is important in the ... read more
Source: PubMedPublished on 2022-09-21By Laura J Smith