Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.G41D
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SNCA

NM_000345.4:p.G41D

Associated Papers

The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons.

Jones-Tabah J et al.

Molecular Neurodegeneration, 2024

39587654 (PubMed )
Supplement: 13024_2024_779_MOESM1_ESM.xlsx › Supp_Table_13_-_gnomAD_CTSB_LOF

Parkinson's disease-associated mutations in α-synuclein alters its lipid-bound state.

Maltseva S et al.

Biophysical Journal, 2024

In silico analysis of alpha-synuclein protein variants and posttranslational modifications related to Parkinson's disease.

da Silva ANR et al.

Journal of Cellular Biochemistry, 2024

In Silico Evaluation of the Potential Association of the Pathogenic Mutations of Alpha Synuclein Protein with Induction of Synucleinopathies.

Elnageeb ME et al.

Diseases (basel, Switzerland), 2023

An endogenous peptide marker differentiates SOD1 stability and facilitates pharmacodynamic monitoring in SOD1 amyotrophic lateral sclerosis.

Gertsman I et al.

Jci Insight, 2019

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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."