Associated Papers
TRIM9 and TRIM26 Interact with UBQLN2P497H to Modulate Its Proteasomal Degradation.
Chen X et al.
Acs Chemical 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
UBQLN2 in neurodegenerative disease: mechanistic insights and emerging therapeutic potential.
Matthews AM et al.
Biochemical Society Transactions, 2025
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.
Pottier C et al.
Nature Communications, 2025
Unveiling amyotrophic lateral sclerosis complexity: insights from proteomics, metabolomics and microbiomics.
Scarcella S et al.
Brain Communications, 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
Oxidative stress-induced stress granules: a central link to protein aggregation in neurodegenerative diseases.
Younas N et al.
Frontiers in Neuroscience, 2025
The Underestimated Role of Iron in Frontotemporal Dementia: A Narrative Review.
Ferretti S et al.
International Journal of Molecular Sciences, 2024
Pathophysiologic abnormalities in transgenic mice carrying the Alzheimer disease PSEN1 Δ440 mutation.
Fuller PE et al.
Human Molecular Genetics, 2024
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
Molecular hallmarks of ageing in amyotrophic lateral sclerosis.
Jagaraj CJ et al.
Cellular and Molecular Life Sciences : Cmls, 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
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
Emerging Trends in the Field of Inflammation and Proteinopathy in ALS/FTD Spectrum Disorder.
De Marchi F et al.
Biomedicines, 2023
DNAscan2: a versatile, scalable, and user-friendly analysis pipeline for human next-generation sequencing data.
Marriott H et al.
Bioinformatics (oxford, England), 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
Potential roles of the endoplasmic reticulum stress pathway in amyotrophic lateral sclerosis.
Jeon YM et al.
Frontiers in Aging Neuroscience, 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
Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD-associated UBQLN2 mutants.
Strohm L et al.
Life Science Alliance, 2022
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
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
The converging roles of sequestosome-1/p62 in the molecular pathways of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Davidson JM et al.
Neurobiology of Disease, 2022
Modelling amyotrophic lateral sclerosis in rodents.
Todd TW et al.
Nature Reviews. Neuroscience, 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
Serpin neuropathology in the P497S UBQLN2 mouse model of ALS/FTD.
Higgins NR et al.
Brain Pathology (zurich, Switzerland), 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
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
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
Neuronal Expression of UBQLN2P497H Exacerbates TDP-43 Pathology in TDP-43G348C Mice through Interaction with Ubiquitin.
Picher-Martel V et al.
Molecular Neurobiology, 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
Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis.
De Giorgio F et al.
Disease Models & Mechanisms, 2019