Associated Papers
Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.
Lu J et al.
Autophagy, 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
UBQLN2 in neurodegenerative disease: mechanistic insights and emerging therapeutic potential.
Matthews AM et al.
Biochemical Society Transactions, 2025
E3 ligase recruitment by UBQLN2 protects substrates from proteasomal degradation.
Scheutzow AN et al.
Biorxiv : the Preprint Server for Biology, 2025
The role of autophagy in the pathogenesis and treatment of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Beckers J et al.
Autophagy Reports, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 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
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
Pathogenic mutations in UBQLN2 exhibit diverse aggregation propensity and neurotoxicity.
Safren N et al.
Scientific Reports, 2024
Analysis of translatomic changes in the Ubqln2P497S model of ALS reveals that motor neurons express muscle-associated genes in non-disease states.
Stansberry WM et al.
Frontiers in Neurology, 2024
Axon guidance genes modulate neurotoxicity of ALS-associated UBQLN2.
Kim SH et al.
Elife, 2023
UBQLN2 restrains the domesticated retrotransposon PEG10 to maintain neuronal health in ALS.
Black HH 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
Neuronal Puncta/Aggregate Formation by WT and Mutant UBQLN2.
Safren N et al.
Methods in Molecular Biology (clifton, N.j.), 2023
Potential roles of the endoplasmic reticulum stress pathway in amyotrophic lateral sclerosis.
Jeon YM et al.
Frontiers in Aging Neuroscience, 2023
Simple models to understand complex disease: 10 years of progress from Caenorhabditis elegans models of amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
Eck RJ et al.
Frontiers in Neuroscience, 2023
UBQLN proteins in health and disease with a focus on UBQLN2 in ALS/FTD.
Lin BC et al.
The Febs Journal, 2022
Proteostasis impairment and ALS.
Lambert-Smith IA et al.
Progress in Biophysics and Molecular Biology, 2022
New insights into the role of the Golgi apparatus in the pathogenesis and therapeutics of human diseases.
Choi W et al.
Archives of Pharmacal Research, 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
TDP-43 pathology: From noxious assembly to therapeutic removal.
Keating SS et al.
Progress in Neurobiology, 2022
Modelling amyotrophic lateral sclerosis in rodents.
Todd TW et al.
Nature Reviews. Neuroscience, 2022
Amyotrophic lateral sclerosis (ALS) linked mutation in Ubiquilin 2 affects stress granule assembly via TIA-1.
Peng G et al.
Cns Neuroscience & Therapeutics, 2022
Nearly 30 Years of Animal Models to Study Amyotrophic Lateral Sclerosis: A Historical Overview and Future Perspectives.
Bonifacino T et al.
International Journal of Molecular Sciences, 2021
ALS-linked mutations impair UBQLN2 stress-induced biomolecular condensate assembly in cells.
Riley JF et al.
Journal of Neurochemistry, 2021
Human Ubiquilin 2 and TDP-43 copathology drives neurodegeneration in transgenic Caenorhabditis elegans.
Saxton AD et al.
G3 (bethesda, Md.), 2021
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
Overexpression of UBQLN1 reduces neuropathology in the P497S UBQLN2 mouse model of ALS/FTD.
Wang S et al.
Acta Neuropathologica Communications, 2020
Amyotrophic lateral sclerosis-linked UBQLN2 mutants inhibit endoplasmic reticulum to Golgi transport, leading to Golgi fragmentation and ER stress.
Halloran M et al.
Cellular and Molecular Life Sciences : Cmls, 2020
Structure, dynamics and functions of UBQLNs: at the crossroads of protein quality control machinery.
Zheng T et al.
The Biochemical Journal, 2020
Modeling UBQLN2-mediated neurodegenerative disease in mice: Shared and divergent properties of wild type and mutant UBQLN2 in phase separation, subcellular localization, altered proteostasis pathways, and selective cytotoxicity.
Sharkey LM et al.
Neurobiology of Disease, 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
The Impact of ALS-Associated Genes hnRNPA1, MATR3, VCP and UBQLN2 on the Severity of TDP-43 Aggregation.
Bajc Česnik A et al.
Cells, 2020
The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature.
Picher-Martel V et al.
Journal of Child Neurology, 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
UBQLN2 Promotes the Production of Type I Interferon via the TBK1-IRF3 Pathway.
Chen T et al.
Cells, 2020
Mendelian neurodegenerative disease genes involved in autophagy.
Stamatakou E et al.
Cell Discovery, 2020
Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia.
Renaud L et al.
Acta Neuropathologica Communications, 2019