TUBA1A/TUBA1B/TUBA1C/TUBA3C/TUBA3E/TUBA4A (Ab-272) Antibody

1. A de novo heterozygous c.320A>G [p.(His 107 Arg)] mutation in TUBA1A was identified in a patient with microcephaly, epileptic seizures, and severe developmental delay. PMID: 29109381
2. Given that Spastin engages the MT in two places, we propose that severing occurs by forces exerted on the C-terminal tail of tubulin, which results in a conformational change in tubulin, which releases it from the polymer. PMID: 17389232
3. Molecular docking studies revealed that 6f interacted and bound ef fi ciently with the colchicine-binding site of tubulin. In addition, 6f treatment induced G2/M cell cycle arrest dose-dependently and subsequently induced cell apoptosis PMID: 28440465
4. induced pluripotent stem cells (iPSCs) from the umbilical cord and peripheral blood of two lissencephaly patients with different clinical severities carrying alpha tubulin (TUBA1A) missense mutations, were generated. PMID: 27431206
5. Long intergenic non-coding RNA APOC1P1-3 inhibits apoptosis by decreasing alpha-tubulin acetylation in breast cancer. PMID: 27228351
6. Results show that Tuba1a plays an essential, noncompensated role in neuronal saltatory migration in vivo and highlight the importance of microtubule flexibility in nucleus-centrosome coupling and neuronal-branching regulation during neuronal migration. PMID: 28687665
7. data suggest that the TUBA1A mutations disrupting lateral interactions have pronounced dominant-negative effects on microtubule dynamics that are associated with the severe end of the lissencephaly spectrum PMID: 26493046
8. Data show that tubulin phosphorylation and acetylation play important roles in the control of microtubule assembly and stability. PMID: 26165356
9. Data show that plasma membrane Ca(2+)-ATPase (PMCA) was associated with tubulin in normotensive and hypertensive erythrocytes. PMID: 26307527
10. Studies indicate that alpha-tubulin acetylation and microtubule level is mainly governed by opposing actions of alpha-tubulin acetyltransferase 1 (ATAT1) and histone deacetylase 6 (HDAC6). PMID: 26227334
11. Data from studies using peptide fragment of alpha-tubulin (residues 31-49) suggest that Ser38 is crucial for substrate recognition by alpha-tubulin acetylase 1 (ATAT1); Asp39, Ile42, the glycine stretch (residues 43-45), and Asp46 are also involved. PMID: 25602620
12. Lysine 40 acetylation of alpha-tubulin does not result in significant changes in kinesin-1's landing rate or motility parameters. PMID: 24940781
13. These results demonstrated that SelP interacts with tubulin, alpha 1a (TUBA1A). PMID: 24914767
14. This study show all foetuses with lissencephaly and cerebellar hypoplasia carried distinct TUBA1A mutations. PMID: 25059107
15. These findings call attention to PKC-mediated phosphorylation of alpha-tubulin as a novel mechanism for controlling the dynamics of microtubules that result in cell movement. PMID: 24574051
16. case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation PMID: 23528852
17. The present study confirms that mutations in tubulin genes are responsible for complex brain malformation. PMID: 24392928
18. Studies suggest that tubulin-interactive agents have the potential to play a significant role in the fight against cancer. PMID: 23818224
19. Missense mutations in TUBA1A were found in 3 patients with polymicrogyria. PMID: 22948023
20. We described the clinical course and pathological findings in a child with TUBA1A mutation PMID: 22633752
21. TUBA1A and TUBB2B coding regions have been sequenced that are associated with cortical malformations. PMID: 23361065
22. Data show that Na(+),K(+)-ATPase activity was >50% lower and membrane-associated tubulin content was >200% higher in erythrocyte membranes from diabetic patients. PMID: 22565168
23. study describes a 14-month-old girl with TUBA1A mutation-associated lissencephaly, and summarize the clinical and neuroradiologic findings of 19 cases in the literature PMID: 22264709
24. Alpha2B-adrenergic receptor interaction with tubulin controls its transport from the endoplasmic reticulum to the cell surface PMID: 21357695
25. The expression of alpha-tubulin and MDR1 may play an important role in the development and progression of human non-small cell lung carcinoma. PMID: 20510079
26. We report a mutation in TUBA1A as a cause of polymicrogyria. So far, all mutations in TUBA1A have occurred de novo, resulting in isolated cases. This article describes familial recurrence of TUBA1A mutations due to somatic mosaicism in a parent. PMID: 21403111
27. Data show that IAV-infected cells contain elevated level of AcTub and alpha-tubulin. PMID: 21094644
28. Mutations in TUBA1A result in defects in the tubulin folding and heterodimer assembly. PMID: 20603323
29. LIS-associated mutations of TUBA1A operate via diverse mechanisms that include disruption of binding sites for microtubule-associated proteins. PMID: 20466733
30. the dipole moments of each tubulin isotype may influence their functional characteristics within the cell, resulting in differences for MT assembly kinetics and stability PMID: 16941085
31. Mutations in alpha-tubulin in mice and humans that affect neuronal migration result in abnormal lamination of brain structures with associated behavioral deficits. PMID: 17218254
32. Retrospective examination of MR images suggests that patients with TUBA1A mutations share not only cortical dysgenesis, but also cerebellar, hippocampal, corpus callosum, and brainstem abnormalities PMID: 17584854
33. Increased expression of tubulin alpha is associated with pulmonary sclerosing hemangioma PMID: 17914564
34. The diminished production of TUBA1A tubulin in R264C individuals is consistent with haploinsufficiency as a cause of the disease phenotype. PMID: 18199681
35. the TUBA1A phenotype is distinct from LIS1, DCX, RELN and ARX lissencephalies. Compared with the phenotypes of children mutated for TUBA1A, these prenatally diagnosed fetal cases occur at the severe end of the TUBA1A lissencephaly spectrum. PMID: 18669490
36. Missense mutations within the TUBA1A gene are associated with specific abnormalities in lissencephaly. PMID: 18728072
37. mutation analysis in the TUBA1A gene in 46 patients with classical lissencephaly. PMID: 18954413
38. This protein has been found differentially expressed in the Wernicke's Area from patients with schizophrenia. PMID: 19405953

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HGNC: 20766

OMIM: 602529

KEGG: hsa:7846

STRING: 9606.ENSP00000301071

UniGene: Hs.654422