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
Deleterious Sequestosome 1 mutations G262R and P438L in amyotrophic lateral sclerosis cause autophagy and oxidative stress imbalance.
Singh N et al.
Neuroscience, 2025
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
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
Proteostasis impairment and ALS.
Lambert-Smith IA et al.
Progress in Biophysics and Molecular Biology, 2022
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
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
The conformational and mutational landscape of the ubiquitin-like marker for autophagosome formation in cancer.
Fas BA et al.
Autophagy, 2021
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
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
SQSTM1L341V variant that is linked to sporadic ALS exhibits impaired association with MAP1LC3 in cultured cells.
Nozaki M et al.
Eneurologicalsci, 2021
The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.
Foster AD et al.
Neural Regeneration Research, 2020
p62/SQSTM1, a Central but Unexploited Target: Advances in Its Physiological/Pathogenic Functions and Small Molecular Modulators.
Chen Y et al.
Journal of Medicinal Chemistry, 2020
ALS-FTLD-linked mutations of SQSTM1/p62 disrupt selective autophagy and NFE2L2/NRF2 anti-oxidative stress pathway.
Deng Z et al.
Autophagy, 2020
Mendelian neurodegenerative disease genes involved in autophagy.
Stamatakou E et al.
Cell Discovery, 2020
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
ALS-FTLD associated mutations of SQSTM1 impact on Keap1-Nrf2 signalling.
Goode A et al.
Molecular and Cellular Neurosciences, 2016
Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations.
Luis E et al.
Journal of Alzheimer's Disease : Jad, 2016
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
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 frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
Rubino E et al.
Neurology, 2012