Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN2
Variant:p.T128S
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UBQLN2

NM_013444.4:p.T128S

Associated Papers

TDP-43 proteinopathies and neurodegeneration: insights from Caenorhabditis elegans models.

Pir GJ et al.

The Febs Journal, 2026

Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.

Yuan L et al.

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

TDP-43 as a therapeutic target in neurodegenerative diseases: Focusing on motor neuron disease and frontotemporal dementia.

Babazadeh A et al.

Ageing Research Reviews, 2023

TDP-43 protein interactome informs about perturbed canonical pathways and may help develop personalized medicine approaches for patients with TDP-43 pathology.

Helmold BR et al.

Drug Discovery Today, 2023

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

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

A Systematic and Comprehensive Review on Disease-Causing Genes in Amyotrophic Lateral Sclerosis.

Srinivasan E et al.

Journal of Molecular Neuroscience : Mn, 2020

Disrupted neuronal trafficking in amyotrophic lateral sclerosis.

Burk K et al.

Acta Neuropathologica, 2019

The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?

Hergesheimer RC et al.

Brain : a Journal of Neurology, 2019

TDP-43 post-translational modifications in health and disease.

Buratti E

Expert Opinion on Therapeutic Targets, 2018

From animal models to human disease: a genetic approach for personalized medicine in ALS.

Picher-Martel V et al.

Acta Neuropathologica Communications, 2016

Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.

Marangi G et al.

Brain Research, 2015

Emerging mechanisms of molecular pathology in ALS.

Peters OM et al.

The Journal of Clinical Investigation, 2015

Amyotrophic lateral sclerosis: new insights into underlying molecular mechanisms and opportunities for therapeutic intervention.

Cozzolino M et al.

Antioxidants & Redox Signaling, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."