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
Large-scale drug screening in iPSC-derived motor neurons from sporadic ALS patients identifies a potential combinatorial therapy.
Bye CR et al.
Nature Neuroscience, 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
E3 ligase recruitment by UBQLN2 protects substrates from proteasomal degradation.
Scheutzow AN et al.
Biorxiv : the Preprint Server for Biology, 2025
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.
Pottier C et al.
Nature Communications, 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
Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia.
Nementzik LR et al.
Brain Pathology (zurich, Switzerland), 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
Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD-associated UBQLN2 mutants.
Strohm L et al.
Life Science Alliance, 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
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
UBQLN2-HSP70 axis reduces poly-Gly-Ala aggregates and alleviates behavioral defects in the C9ORF72 animal model.
Zhang K et al.
Neuron, 2021
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
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
The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.
McCann EP et al.
Clinical Genetics, 2017
C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue.
Scotter EL et al.
Neurobiology of Aging, 2017
UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome.
Hjerpe R et al.
Cell, 2016
Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features.
Yang S et al.
Neurotoxicity Research, 2015
Application of next-generation sequencing technologies in Neurology.
Jiang T et al.
Annals of Translational Medicine, 2014
Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis.
Yang S et al.
Neurobiology of Aging, 2013
UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.
Williams KL et al.
Neurobiology of Aging, 2012
The genetics and neuropathology of amyotrophic lateral sclerosis.
Al-Chalabi A et al.
Acta Neuropathologica, 2012
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