Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.A117A
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SQSTM1

NM_003900.5:p.A117A

Associated Papers

Deleterious Sequestosome 1 mutations G262R and P438L in amyotrophic lateral sclerosis cause autophagy and oxidative stress imbalance.

Singh N et al.

Neuroscience, 2025

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

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

SQSTM1L341V variant that is linked to sporadic ALS exhibits impaired association with MAP1LC3 in cultured cells.

Nozaki M et al.

Eneurologicalsci, 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

ALS-FTLD-linked mutations of SQSTM1/p62 disrupt selective autophagy and NFE2L2/NRF2 anti-oxidative stress pathway.

Deng Z et al.

Autophagy, 2020

Mendelian neurodegenerative disease genes involved in autophagy.

Stamatakou E et al.

Cell Discovery, 2020

An FTLD-associated SQSTM1 variant impacts Nrf2 and NF-κB signalling and is associated with reduced phosphorylation of p62.

Foster A et al.

Molecular and Cellular Neurosciences, 2019

ALS-FTLD associated mutations of SQSTM1 impact on Keap1-Nrf2 signalling.

Goode A et al.

Molecular and Cellular Neurosciences, 2016

p62/SQSTM1 analysis in frontotemporal lobar degeneration.

Miller L et al.

Neurobiology of Aging, 2015

p62/SQSTM1 is a target gene for transcription factor NRF2 and creates a positive feedback loop by inducing antioxidant response element-driven gene transcription.

Jain A et al.

The Journal of Biological Chemistry, 2010

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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."