Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.K430N
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TUBA4A

NM_006000.3:p.K430N

Associated Papers

TUBA4A: The Tale of an Unconventional Tubulin.

Zhu JL et al.

Cytoskeleton (hoboken, N.j.), 2025

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

Luan T et al.

Neuroscience Bulletin, 2024

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS

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

Ganne A et al.

Scientific Reports, 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

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

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

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications.

Chia R et al.

The Lancet. Neurology, 2018

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

Perrone F et al.

Neurobiology of Aging, 2017

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

[Clinical statistics of myasthenia gravis, progressive muscular dystrophy and amyotrophic lateral sclerosis].

Unoya K

[kango Gijutsu] : [nursing Technique], 1973

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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."