Associated Papers
A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia.
Thumbadoo KM et al.
Neurobiology of Disease, 2025
UBQLN2 in neurodegenerative disease: mechanistic insights and emerging therapeutic potential.
Matthews AM et al.
Biochemical Society Transactions, 2025
ALS mutations disrupt self-association between the Ubiquilin Sti1 hydrophobic groove and internal placeholder sequences.
Onwunma J et al.
Biorxiv : the Preprint Server for Biology, 2025
Pathogenic mutations in UBQLN2 exhibit diverse aggregation propensity and neurotoxicity.
Safren N et al.
Scientific Reports, 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
ALS-linked mutations impair UBQLN2 stress-induced biomolecular condensate assembly in cells.
Riley JF et al.
Journal of Neurochemistry, 2021
First case of an UBQLN2 gene mutation causing frontotemporal dementia preceded by adult onset psychiatric symptoms.
Raggi A et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020
Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia.
Renaud L et al.
Acta Neuropathologica Communications, 2019
Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia.
Gellera C et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.
Sharma R et al.
Mutation Research. Reviews in Mutation Research, 0
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