Article
The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines.
Human molecular genetics - 19 Feb 2023
Smith Laura J, Bolsinger Magdalena M, Chau Kai-Yin, Gegg Matthew E, Schapira Anthony H V
Abstract excerpt
Sequence 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 the impairment of the autophagy-lysosomal pathway, which is important in the turnover of alpha-synuclein, accumulation of which is a key pathological...
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