Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.E83A
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SNCA

NM_000345.4:p.E83A

Associated Papers

Defining essential charged residues in fibril formation of a lysosomal derived N-terminal α-synuclein truncation.

McGlinchey RP et al.

Nature Communications, 2025

Structurally targeted mutagenesis identifies key residues supporting α -synuclein misfolding in multiple system atrophy.

Reis PM et al.

Biorxiv : the Preprint Server for Biology, 2024

39026799 (PubMed )
Supplement: media-1.pdf

Protein arginylation targets alpha synuclein, facilitates normal brain health, and prevents neurodegeneration.

Wang J et al.

Scientific Reports, 2017

Residue Glu83 plays a major role in negatively regulating alpha-synuclein amyloid formation.

Waxman EA et al.

Biochemical and Biophysical Research Communications, 2010

Characterization of hydrophobic residue requirements for alpha-synuclein fibrillization.

Waxman EA et al.

Biochemistry, 2009

Inhibition of alpha-synuclein fibrillization by dopamine is mediated by interactions with five C-terminal residues and with E83 in the NAC region.

Herrera FE et al.

Plos One, 2008

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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."