Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.S349T
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SQSTM1

NM_003900.5:p.S349T

Associated Papers

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

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

Molecular modelling and dynamic simulations of sequestosome 1 (SQSTM1) missense mutations linked to Paget disease of bone.

Shaik NA et al.

Journal of Biomolecular Structure & Dynamics, 2021

Keap1/Cullin3 Modulates p62/SQSTM1 Activity via UBA Domain Ubiquitination.

Lee Y et al.

Cell Reports, 2017

Clinical and Genetic Advances in Paget's Disease of Bone: a Review.

Alonso N et al.

Clinical Reviews in Bone and Mineral Metabolism, 2017

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

Goode A et al.

Molecular and Cellular Neurosciences, 2016

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

van der Zee J et al.

Acta Neuropathologica, 2014

Genetics of Paget's disease of bone.

Ralston SH et al.

Current Osteoporosis Reports, 2014

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

Rea SL et al.

Experimental Cell Research, 2014

Identification of rare genetic variants in novel loci associated with Paget's disease of bone.

Beauregard M et al.

Human Genetics, 2014

Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.

Kwok CT et al.

European Journal of Human Genetics : Ejhg, 2014

New insights into the role of sequestosome 1/p62 mutant proteins in the pathogenesis of Paget's disease of bone.

Rea SL et al.

Endocrine Reviews, 2013

The S349T mutation of SQSTM1 links Keap1/Nrf2 signalling to Paget's disease of bone.

Wright T et al.

Bone, 2013

Paget's disease of bone: evidence for complex pathogenetic interactions.

Chung PY et al.

Seminars in Arthritis and Rheumatism, 2012

Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population.

Michou L et al.

Bone, 2011

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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."