Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.R215C
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TUBA4A

NM_006000.3:p.R215C

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

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Benkirane M et al.

Brain : a Journal of Neurology, 2024

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

Luan T et al.

Neuroscience Bulletin, 2024

Structural insights into the mechanism of GTP initiation of microtubule assembly.

Zhou J et al.

Nature Communications, 2023

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

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

Stump AL et al.

Biomolecules, 2023

Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.

Tantry MSA et al.

Molecular Neurobiology, 2023

Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.

Li Q et al.

Genome Biology, 2023

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

Multiple roles for the cytoskeleton in ALS.

Liu X et al.

Experimental Neurology, 2022

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

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

New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.

Sabatelli M et al.

Brain Pathology (zurich, Switzerland), 2016

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."