Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.A53P
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SNCA

NM_000345.4:p.A53P

Associated Papers

Missense Mutations Modify the Conformational Ensemble of the α-Synuclein Monomer Which Exhibits a Two-Phase Characteristic.

Guzzo A et al.

Frontiers in Molecular Biosciences, 2021

The vicious cycle between α-synuclein aggregation and autophagic-lysosomal dysfunction.

Bellomo G et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

Iron in neurodegenerative disorders of protein misfolding: a case of prion disorders and Parkinson's disease.

Singh N et al.

Antioxidants & Redox Signaling, 2014

The role of alpha-synuclein in neurodegenerative diseases.

Bennett MC

Pharmacology & Therapeutics, 2005

Haploinsufficiency at the alpha-synuclein gene underlies phenotypic severity in familial Parkinson's disease.

Kobayashi H et al.

Brain : a Journal of Neurology, 2003

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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."