Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN2
Variant:p.P497H
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UBQLN2

NM_013444.4:p.P497H

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

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

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

Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.

Yuan L et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Antibody targeting TDP-43 mitigates pathogenic pathways induced by the cerebrospinal fluid of ALS.

Poulin-Brière A et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025

UBQLN2 in neurodegenerative disease: mechanistic insights and emerging therapeutic potential.

Matthews AM et al.

Biochemical Society Transactions, 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

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

Oxidative stress-induced stress granules: a central link to protein aggregation in neurodegenerative diseases.

Younas N 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

39333476 (PubMed )
Supplement: 41467_2024_52580_MOESM4_ESM.xlsx › impact_ps_mutations

TDP-43 proteinopathy in frontotemporal lobar degeneration and amyotrophic lateral sclerosis: From pathomechanisms to therapeutic strategies.

Ho PC et al.

Ageing Research Reviews, 2024

High-content analysis of proteostasis capacity in cellular models of amyotrophic lateral sclerosis (ALS).

Lambert-Smith IA et al.

Scientific Reports, 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

UBQLN2 and HSP70 participate in Parkin-mediated mitophagy by facilitating outer mitochondrial membrane rupture.

Ma Q et al.

Embo Reports, 2023

Axon guidance genes modulate neurotoxicity of ALS-associated UBQLN2.

Kim SH et al.

Elife, 2023

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