Varaico: Literature-Extracted Genetic Variants

Gene:DCTN4
Variant:p.L341V
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DCTN4

NM_016221.4:p.L341V

Associated Papers

p62/SQSTM1 Condensation Modulates Mitochondrial Clustering to Participate in Mitochondrial Quality Control.

Sun S et al.

Aging Cell, 2026

Urolithin A promotes p62-dependent lysophagy to prevent acute retinal neurodegeneration.

Jiménez-Loygorri JI et al.

Molecular Neurodegeneration, 2024

Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.

Bagyinszky E et al.

Cells, 2023

The selective autophagy adaptor p62/SQSTM1 forms phase condensates regulated by HSP27 that facilitate the clearance of damaged lysosomes via lysophagy.

Gallagher ER et al.

Cell Reports, 2023

The converging roles of sequestosome-1/p62 in the molecular pathways of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Davidson JM et al.

Neurobiology of Disease, 2022

An ALS-associated variant of the autophagy receptor SQSTM1/p62 reprograms binding selectivity toward the autophagy-related hATG8 proteins.

Brennan A et al.

The Journal of Biological Chemistry, 2022

Phase-separated protein droplets of amyotrophic lateral sclerosis-associated p62/SQSTM1 mutants show reduced inner fluidity.

Faruk MO et al.

The Journal of Biological Chemistry, 2021

DNA damage as a mechanism of neurodegeneration in ALS and a contributor to astrocyte toxicity.

Kok JR et al.

Cellular and Molecular Life Sciences : Cmls, 2021

The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.

Foster AD et al.

Neural Regeneration Research, 2020

p62/SQSTM1, a Central but Unexploited Target: Advances in Its Physiological/Pathogenic Functions and Small Molecular Modulators.

Chen Y et al.

Journal of Medicinal Chemistry, 2020

Autophagy in Age-Associated Neurodegeneration.

Metaxakis A et al.

Cells, 2018

SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD.

Rea SL et al.

Experimental Cell Research, 2014

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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."