Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.D129N
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SQSTM1

NM_003900.5:p.D129N

Associated Papers

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis.

Wang S et al.

Journal of Medical Genetics, 2024

Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia.

Llamas-Velasco S et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021

R-catcher, a potent molecular tool to unveil the arginylome.

Seo T 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

ZZ-dependent regulation of p62/SQSTM1 in autophagy.

Zhang Y et al.

Nature Communications, 2018

Insights into degradation mechanism of N-end rule substrates by p62/SQSTM1 autophagy adapter.

Kwon DH et al.

Nature Communications, 2018

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

van der Zee J et al.

Acta Neuropathologica, 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."