Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.Q128L
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TUBA4A

NM_006000.3:p.Q128L

Associated Papers

TUBA4A: The Tale of an Unconventional Tubulin.

Zhu JL et al.

Cytoskeleton (hoboken, N.j.), 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

Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights.

Luan T et al.

Neuroscience Bulletin, 2024

Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.

Stump AL et al.

Biomolecules, 2023

In silico analysis of TUBA4A mutations in Amyotrophic Lateral Sclerosis to define mechanisms of microtubule disintegration.

Ganne A et al.

Scientific Reports, 2023

Multiple roles for the cytoskeleton in ALS.

Liu X et al.

Experimental Neurology, 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

Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia.

Mol MO et al.

Neurology. Genetics, 2021

Destination Amyotrophic Lateral Sclerosis.

Keon M et al.

Frontiers in Neurology, 2021

33854469 (PubMed )
Supplement: Table_1.XLSX › Genes

Tubulin mutations in brain development disorders: Why haploinsufficiency does not explain TUBA1A tubulinopathies.

Aiken J et al.

Cytoskeleton (hoboken, N.j.), 2020

The Neglected Genes of ALS: Cytoskeletal Dynamics Impact Synaptic Degeneration in ALS.

Castellanos-Montiel MJ et al.

Frontiers in Cellular Neuroscience, 2020

Screening for TUBA4A mutations in a large Chinese cohort of patients with ALS: re-evaluating the pathogenesis of TUBA4A in ALS.

Li J et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients.

Perrone F et al.

Neurobiology of Aging, 2017

Amyotrophic lateral sclerosis: recent genetic highlights.

White MA et al.

Current Opinion in Neurology, 2016

TUBA4A may not be a significant genetic factor in Chinese ALS patients.

Li J et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2015

Excess of rare damaging TUBA4A variants suggests cytoskeletal defects in ALS.

Rademakers R et al.

Neuron, 2014

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Smith BN et al.

Neuron, 2014

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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."