Article
Gene-corrected p.A30P SNCA patient-derived isogenic neurons rescue neuronal branching and function.
Scientific reports - 9 Nov 2021
Barbuti Peter A, Ohnmacht Jochen, Santos Bruno F R, Antony Paul M, Massart François, Cruciani Gérald, Dording Claire M, Pavelka Lukas, Casadei Nicolas, Kwon Yong-Jun, Krüger Rejko
Abstract excerpt
Parkinson's disease (PD) is characterised by the degeneration of A9 dopaminergic neurons and the pathological accumulation of alpha-synuclein. The p.A30P SNCA mutation generates the pathogenic form of the alpha-synuclein protein causing an autosomal-dominant form of PD. There are limited studies assessing pathogenic SNCA mutations in patient-derived isogenic cell models. Here we provide a functional assessment of...
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