Article
The novel Parkinson's disease linked mutation G51D attenuates in vitro aggregation and membrane binding of α-synuclein, and enhances its secretion and nuclear localization in cells.
Human molecular genetics - 1 Sept 2014
Fares Mohamed-Bilal, Ait-Bouziad Nadine, Dikiy Igor, Mbefo Martial K, Jovičić Ana, Kiely Aoife, Holton Janice L, Lee Seung-Jae, Gitler Aaron D, Eliezer David, Lashuel Hilal A
Abstract excerpt
A novel mutation in the α-Synuclein (α-Syn) gene "G51D" was recently identified in two familial cases exhibiting features of Parkinson's disease (PD) and multiple system atrophy (MSA). In this study, we explored the impact of this novel mutation on the aggregation, cellular and biophysical properties of α-Syn, in an attempt to unravel how this mutant contributes to PD/MSA. Our results show that the G51D mutation...
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