Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.S403A
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SQSTM1

NM_003900.5:p.S403A

Associated Papers

Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.

Nan H et al.

Alzheimer's Research & Therapy, 2024

Slingshot homolog-1-mediated Nrf2 sequestration tips the balance from neuroprotection to neurodegeneration in Alzheimer's disease.

Cazzaro S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Phosphorylation of phase-separated p62 bodies by ULK1 activates a redox-independent stress response.

Ikeda R et al.

The Embo Journal, 2023

Non-canonical function of FIP200 is required for neural stem cell maintenance and differentiation by limiting TBK1 activation and p62 aggregate formation.

Liu H et al.

Scientific Reports, 2021

SSH1 impedes SQSTM1/p62 flux and MAPT/Tau clearance independent of CFL (cofilin) activation.

Fang C et al.

Autophagy, 2021

PTK2/FAK regulates UPS impairment via SQSTM1/p62 phosphorylation in TARDBP/TDP-43 proteinopathies.

Lee S et al.

Autophagy, 2020

Ubiquitylation of p62/sequestosome1 activates its autophagy receptor function and controls selective autophagy upon ubiquitin stress.

Peng H et al.

Cell Research, 2017

ENC1 Modulates the Aggregation and Neurotoxicity of Mutant Huntingtin Through p62 Under ER Stress.

Lee H et al.

Molecular Neurobiology, 2016

Interplay between Leucine-Rich Repeat Kinase 2 (LRRK2) and p62/SQSTM-1 in Selective Autophagy.

Park S et al.

Plos One, 2016

p62 provides dual cytoprotection against oxidative stress in the retinal pigment epithelium.

Wang L et al.

Biochimica Et Biophysica Acta, 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."