Associated Papers
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Ruf WP et al.
Brain Communications, 2023
37223130 (PubMed )
Supplement: fcad152_supplementary_data.pdf
Proteostasis impairment and ALS.
Lambert-Smith IA et al.
Progress in Biophysics and Molecular Biology, 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
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
Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes.
Tamargo-Gómez I et al.
International Journal of Molecular Sciences, 2020
ALS-FTLD associated mutations of SQSTM1 impact on Keap1-Nrf2 signalling.
Goode A et al.
Molecular and Cellular Neurosciences, 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
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