Associated Papers
TRIM32-UBQLN2-p62 axis promotes TDP-43 inclusion formation and amyloid aggregation through shuttle condensates.
He Z et al.
Biorxiv : the Preprint Server for Biology, 2026
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
Interactome screening implicates BAG6 as a suppressor of UBQLN2 misfolding in ALS-dementia.
Kim SH 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
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Chen YP et al.
Journal of Medical Genetics, 2022
Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis.
Su WM et al.
Bmc Medicine, 2022
Genetics of primary lateral sclerosis.
Silani V et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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
ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function.
Wu JJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.
Gkazi SA et al.
Neurobiology of Aging, 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
UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome.
Hjerpe R et al.
Cell, 2016
The distinct genetic pattern of ALS in Turkey and novel mutations.
Özoğuz A et al.
Neurobiology of Aging, 2015
Evidence of a link between ubiquilin 2 and optineurin in amyotrophic lateral sclerosis.
Osaka M et al.
Human Molecular Genetics, 2015
Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2.
Vengoechea J et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013
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