Tubulin alpha-4A chain is a protein that in humans is encoded by the TUBA4A gene. [5] Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin.

Dec 25, 2024 · TUBA4A (Tubulin Alpha 4a) is a Protein Coding gene. Diseases associated with TUBA4A include Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Type 22.

Jul 20, 2022 · We found that Tuba4a lacking C-terminal polyglutamylation prevents the binding of Tau and GSK3 kinase to neuronal microtubules, thereby strongly reducing phospho-Tau levels.

Feb 9, 2025 · Tandem affinity purification and mass spectrometry analysis identify tubulin alpha 4a protein (TUBA4A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells

Feb 6, 2023 · The recent linkage of mutations to the tubulin α chain, TUBA4A, to familial and sporadic cases of ALS provides a new investigative opportunity to shed light on both mechanisms of ALS and the...

Feb 27, 2020 · A potential role for detyrosination in regulating microtubule flexibility can be inferred from the role of a specific α-tubulin isotype, α4A-tubulin (encoded TUBA4A).

The frequency of TUBA4A mutations suggests that TUBA4A is a rare cause of Amotrophic Lateral Sclerosis in Chinese patients. Data indicate a microRNA-1825/TBCB/TUBA4A pathway as a putative pathogenic cascade in both familial ALS (fALS) and both sporadic (sALS).

Apr 7, 2024 · Clinical resource with information about TUBA4A, Amyotrophic lateral sclerosis type 22, Many sequence variants affecting diversity of adult human height., and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

Aug 23, 2023 · We identified three isolated patients with heterozygous variants in the TUBA4A gene (Fig. 1A). The proband in Trio 1 carried a c.850G > A;p.E284K variant, which was validated by Sanger sequencing and was found to be a de novo variant as it was absent in the proband’s parents (Fig. 1A).

Apr 18, 2022 · Smith et al. (2014) also investigated the ability of mutant TUBA4A to efficiently form microtubules using a cell-free system to quantify its incorporation into alpha/beta-tubulin dimers.