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
E3 ligase recruitment by UBQLN2 protects substrates from proteasomal degradation.
Scheutzow AN et al.
Biorxiv : the Preprint Server for Biology, 2025
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia.
Thumbadoo KM et al.
Brain : a Journal of Neurology, 2024
Two new cases with the UBQLN2 gene mutation in Han Chinese.
He S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.
Feng M et al.
Nature Communications, 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
ALS mutations in the TIA-1 prion-like domain trigger highly condensed pathogenic structures.
Sekiyama N et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Chen YP et al.
Journal of Medical Genetics, 2022
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
Structure, dynamics and functions of UBQLNs: at the crossroads of protein quality control machinery.
Zheng T et al.
The Biochemical Journal, 2020
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
ALS-Linked Mutations Affect UBQLN2 Oligomerization and Phase Separation in a Position- and Amino Acid-Dependent Manner.
Dao TP et al.
Structure (london, England : 1993), 2019
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis.
Teyssou E et al.
Neurobiology of Aging, 2017
Viral expression of ALS-linked ubiquilin-2 mutants causes inclusion pathology and behavioral deficits in mice.
Ceballos-Diaz C et al.
Molecular Neurodegeneration, 2015
UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration.
Fahed AC et al.
Annals of Neurology, 2014
The Genetics of Monogenic Frontotemporal Dementia.
Takada LT
Dementia & Neuropsychologia, 0
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