Associated Papers
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
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
DNA damage as a mechanism of neurodegeneration in ALS and a contributor to astrocyte toxicity.
Kok JR et al.
Cellular and Molecular Life Sciences : Cmls, 2021
The role of SQSTM1 (p62) in mitochondrial function and clearance in human cortical neurons.
Poon A et al.
Stem Cell Reports, 2021
The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.
Foster AD et al.
Neural Regeneration Research, 2020
Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates.
Bartolome F et al.
Scientific Reports, 2017
A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.
Boutoleau-Bretonnière C et al.
Journal of Alzheimer's Disease : Jad, 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
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
Fecto F et al.
Archives of Neurology, 2011
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