Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.S129P
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SNCA

NM_000345.4:p.S129P

Associated Papers

Serine-129 phosphorylation of α-synuclein is an activity-dependent trigger for physiologic protein-protein interactions and synaptic function.

Parra-Rivas LA et al.

Neuron, 2023

α-Synuclein Impacts on Intrinsic Neuronal Network Activity Through Reduced Levels of Cyclic AMP and Diminished Numbers of Active Presynaptic Terminals.

Leite K et al.

Frontiers in Molecular Neuroscience, 2022

The effects of the novel A53E alpha-synuclein mutation on its oligomerization and aggregation.

Lázaro DF et al.

Acta Neuropathologica Communications, 2016

Ser129D mutant alpha-synuclein induces earlier motor dysfunction while S129A results in distinctive pathology in a rat model of Parkinson's disease.

Febbraro F et al.

Neurobiology of Disease, 2013

Phosphorylation at S87 is enhanced in synucleinopathies, inhibits alpha-synuclein oligomerization, and influences synuclein-membrane interactions.

Paleologou KE et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."