Varaico: Literature-Extracted Genetic Variants

Gene:ATG5
Variant:p.E122D
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ATG5

NM_004849.4:p.E122D

Associated Papers

C. elegans ATG-5 mutants associated with ataxia.

Yugeta A et al.

Micropublication Biology, 2023

Autophagy deficiency in neurodevelopmental disorders.

Deng Z et al.

Cell & Bioscience, 2021

Mendelian neurodegenerative disease genes involved in autophagy.

Stamatakou E et al.

Cell Discovery, 2020

Autophagy in childhood neurological disorders.

Zhu Y et al.

Developmental Medicine and Child Neurology, 2019

An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway.

Mathiowetz AJ et al.

Molecular Biology of the Cell, 2017

Autophagy and Human Neurodegenerative Diseases-A Fly's Perspective.

Kim M et al.

International Journal of Molecular Sciences, 2017

Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities.

Menzies FM et al.

Neuron, 2017

A cause for childhood ataxia.

Steffan JS

Elife, 2016

Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.

Kim M et al.

Elife, 2016

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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."