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
Interactome screening implicates BAG6 as a suppressor of UBQLN2 misfolding in ALS-dementia.
Kim SH et al.
Biorxiv : the Preprint Server for Biology, 2025
Inborn errors of canonical autophagy in neurodegenerative diseases.
Freisem D et al.
Human Molecular Genetics, 2025
UBQLN2 in neurodegenerative disease: mechanistic insights and emerging therapeutic potential.
Matthews AM et al.
Biochemical Society Transactions, 2025
Interactome screening implicates BAG6 as a suppressor of UBQLN2 misfolding in ALS/FTD.
Kim SH et al.
Frontiers in Molecular Neuroscience, 2025
Prion protein pathology in Ubiquilin 2 models of ALS.
Le NT et al.
Neurobiology of Disease, 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
UBQLN2 and HSP70 participate in Parkin-mediated mitophagy by facilitating outer mitochondrial membrane rupture.
Ma Q et al.
Embo Reports, 2023
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Axon guidance genes modulate neurotoxicity of ALS-associated UBQLN2.
Kim SH et al.
Elife, 2023
UBQLN2 undergoes a reversible temperature-induced conformational switch that regulates binding with HSPA1B: ALS/FTD mutations cripple the switch but do not destroy HSPA1B binding.
Phung TH et al.
Biochimica Et Biophysica Acta. General Subjects, 2023
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
Proteostasis impairment and ALS.
Lambert-Smith IA et al.
Progress in Biophysics and Molecular Biology, 2022
Damaged DNA Is an Early Event of Neurodegeneration in Induced Pluripotent Stem Cell-Derived Motoneurons with UBQLN2P497H Mutation.
Zhang Y et al.
International Journal of Molecular Sciences, 2022
ALS/FTD mutations in UBQLN2 are linked to mitochondrial dysfunction through loss-of-function in mitochondrial protein import.
Lin BC et al.
Human Molecular Genetics, 2021
UBQLN2-HSP70 axis reduces poly-Gly-Ala aggregates and alleviates behavioral defects in the C9ORF72 animal model.
Zhang K et al.
Neuron, 2021
Impaired 26S Proteasome Assembly Precedes Neuronal Loss in Mutant UBQLN2 Rats.
Zhang W et al.
International Journal of Molecular Sciences, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
A Systematic and Comprehensive Review on Disease-Causing Genes in Amyotrophic Lateral Sclerosis.
Srinivasan E et al.
Journal of Molecular Neuroscience : Mn, 2020
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
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
Hot-spot KIF5A mutations cause familial ALS.
Brenner D et al.
Brain : a Journal of Neurology, 2018
Mutation-dependent aggregation and toxicity in a Drosophila model for UBQLN2-associated ALS.
Kim SH et al.
Human Molecular Genetics, 2018
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
Motor neuron disease, TDP-43 pathology, and memory deficits in mice expressing ALS-FTD-linked UBQLN2 mutations.
Le NT et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome.
Hjerpe R et al.
Cell, 2016
Disturbance of proteasomal and autophagic protein degradation pathways by amyotrophic lateral sclerosis-linked mutations in ubiquilin 2.
Osaka M et al.
Biochemical and Biophysical Research Communications, 2016
ALS-linked mutations in ubiquilin-2 or hnRNPA1 reduce interaction between ubiquilin-2 and hnRNPA1.
Gilpin KM et al.
Human Molecular Genetics, 2015
Evidence of a link between ubiquilin 2 and optineurin in amyotrophic lateral sclerosis.
Osaka M et al.
Human Molecular Genetics, 2015
Defective Proteasome Delivery of Polyubiquitinated Proteins by Ubiquilin-2 Proteins Containing ALS Mutations.
Chang L et al.
Plos One, 2015
The changing scene of amyotrophic lateral sclerosis.
Robberecht W et al.
Nature Reviews. Neuroscience, 2013
Dysfunction of constitutive and inducible ubiquitin-proteasome system in amyotrophic lateral sclerosis: implication for protein aggregation and immune response.
Bendotti C et al.
Progress in Neurobiology, 2012
When 'UPS' fails to deliver: a novel gene associated with the ubiquitin-proteasome system causes familial ALS.
Petkau TL
Clinical Genetics, 2012
A role for ubiquilin 2 mutations in neurodegeneration.
Daoud H et al.
Nature Reviews. Neurology, 2011
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.
Deng HX et al.
Nature, 2011
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