Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.Q79L
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SNCA

NM_000345.4:p.Q79L

Associated Papers

Monitoring α-synuclein ubiquitination dynamics reveals key endosomal effectors mediating its trafficking and degradation.

Zenko D et al.

Science Advances, 2023

Parkinson disease-associated Leucine-rich repeat kinase regulates UNC-104-dependent axonal transport of Arl8-positive vesicles in Drosophila.

Inoshita T et al.

Iscience, 2022

β-Turn exchanges in the α-synuclein segment 44-TKEG-47 reveal high sequence fidelity requirements of amyloid fibril elongation.

Agerschou ED et al.

Biophysical Chemistry, 2021

Autophagy-lysosome pathway alterations and alpha-synuclein up-regulation in the subtype of neuronal ceroid lipofuscinosis, CLN5 disease.

Adams J et al.

Scientific Reports, 2019

Nicotine and oxidative stress induced exomic variations are concordant and overrepresented in cancer-associated genes.

Bavarva JH et al.

Oncotarget, 2014

24947164 (PubMed )
Supplement: oncotarget-05-4788-s001.pdf

Induction of neuronal cell death by Rab5A-dependent endocytosis of alpha-synuclein.

Sung JY et al.

The Journal of Biological Chemistry, 2001

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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."