Associated Papers
p62/SQSTM1 Condensation Modulates Mitochondrial Clustering to Participate in Mitochondrial Quality Control.
Sun S et al.
Aging Cell, 2026
Inborn errors of canonical autophagy in neurodegenerative diseases.
Freisem D et al.
Human Molecular Genetics, 2025
The p.R321C mutation in the p62 protein is associated with abnormalities in the central nervous system.
Usategui-Martín R et al.
Scientific Reports, 2025
Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis.
Wang S et al.
Journal of Medical Genetics, 2024
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 2022
36133075 (PubMed )
Supplement: Table_1.XLSX › AD_057
The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.
Foster AD et al.
Neural Regeneration Research, 2020
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.xlsx › Variant_list
A mutation in p62 protein (p. R321C), associated to Paget's disease of bone, causes a blockade of autophagy and an activation of NF-kB pathway.
Usategui-Martín R et al.
Bone, 2020
SQSTM1 Mutations and Glaucoma.
Scheetz TE et al.
Plos One, 2016
27275741 (PubMed )
Supplement: pone.0156001.s001.xlsx › Sheet1
Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study.
Cuyvers E et al.
Neurobiology of Aging, 2015
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
van der Zee J et al.
Acta Neuropathologica, 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
Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.
Kenna KP et al.
Human Mutation, 2013
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
Fecto F et al.
Archives of Neurology, 2011
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