The novel Parkinson's disease linked mutation G51D attenuates in vitro aggregation and membrane binding of alpha-synuclein, and enhances its secretion and nuclear localization in cells

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22-07-2022
Biology

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The novel Parkinson's disease linked mutation G51D attenuates in vitro aggregation and membrane binding of alpha-synuclein, and enhances its secretion and nuclear localization in cells

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tutorconsortium31 tutorconsortium31 · Answer 1 · 2022-07-29T05:38:10+02:00

PD linked mutation may cause neurodegeneration via different mechanism.

What is Novel Parkinson's disease linked mutation ?

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)

the G51D mutation significantly attenuates α-Syn aggregation in vitro.

it disrupts local helix formation in the presence of SDS, decreases binding to lipid vesicles C-terminal to the site of mutation and severely inhibits helical folding in the presence of acidic vesicles.

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