Associated Papers
Atypical Frontotemporal Dementia Associated With SQSTM1 Gene Mutation: A Clinicopathological Case.
Espinoza-Vinces C et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification
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
SQSTM1 variant in disorders of the frontotemporal dementia-amyotrophic lateral sclerosis spectrum: identification of a novel heterozygous variant and a review of the literature.
Li W et al.
Journal of Neurology, 2021
The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.
Foster AD et al.
Neural Regeneration Research, 2020
Pathomechanism Heterogeneity in the Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Disease Spectrum: Providing Focus Through the Lens of Autophagy.
Casterton RL et al.
Journal of Molecular Biology, 2020
Triggering apoptosis by oroxylin A through caspase-8 activation and p62/SQSTM1 proteolysis.
Zhao Y et al.
Redox Biology, 2020
Regulated proteolysis of p62/SQSTM1 enables differential control of autophagy and nutrient sensing.
Sanchez-Garrido J et al.
Science Signaling, 2018
Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations.
Luis E et al.
Journal of Alzheimer's Disease : Jad, 2016
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
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