Article
Sphingolipid changes in Parkinson L444P GBA mutation fibroblasts promote α-synuclein aggregation.
Brain : a journal of neurology - 29 Apr 2022
Galvagnion Céline, Marlet Frederik Ravnkilde, Cerri Silvia, Schapira Anthony H V, Blandini Fabio, Di Monte Donato A
Abstract excerpt
Intraneuronal accumulation of aggregated α-synuclein is a pathological hallmark of Parkinson's disease. Therefore, mechanisms capable of promoting α-synuclein deposition bear important pathogenetic implications. Mutations of the glucocerebrosidase 1 (GBA) gene represent a prevalent Parkinson's disease risk factor. They are associated with loss of activity of a key enzyme involved in lipid metabolism,...
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