Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.R110C
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SQSTM1

NM_003900.5:p.R110C

Associated Papers

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS

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

Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.

Mesaros M et al.

Genes, 2021

35052416 (PubMed )
Supplement: genes-13-00076-s001.zip › genes-1514337-supplementary.pdf

The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Jiao B et al.

Npj Genomic Medicine, 2021

34389718 (PubMed )
Supplement: 41525_2021_235_MOESM1_ESM.docx

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

Foster AD et al.

Neural Regeneration Research, 2020

The clinical and radiological profile of primary lateral sclerosis: a population-based study.

Finegan E et al.

Journal of Neurology, 2019

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

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

van der Zee J et al.

Acta Neuropathologica, 2014

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

Rea SL et al.

Experimental Cell Research, 2014

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

Le Ber I et al.

Jama Neurology, 2013

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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."