Associated Papers
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant.
Watanabe K et al.
Journal of Human Genetics, 2025
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
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides
Pathogenic mutations in UBQLN2 exhibit diverse aggregation propensity and neurotoxicity.
Safren N et al.
Scientific Reports, 2024
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
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.
Blauwendraat C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype.
Synofzik M et al.
Neurobiology of Aging, 2012
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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