Recombinant Human Tubulin beta-4A chain (TUBB4A)

1. The data of this studies suggest that mutations in TUBB4A exceedingly rarely contribute to the etiology of isolated dystonia. PMID: 28655586
2. The different clinical phenotypes associated with TUBB4A reflect the selective and specific cellular effects of the causative mutations. Cellular specificity of disease pathogenesis is relevant to developing targeted treatments for this disabling condition. PMID: 28973395
3. Together, DYT4-associated TUBB4A mutants themselves form aberrant tubulin networks and inhibit neuronal process growth, possibly explaining progress through the pathological states at cellular levels. PMID: 29127012
4. Genetic screening targeted at currently known disease-causing mutations in TOR1A, THAP1, and TUBB4 appears to have low diagnostic yield in sporadic spasmodic dysphonia. In our cohort, only 2 patients tested positive for novel/rare variants in THAP1. PMID: 27188707
5. TUBB4A-mutated patients manifest a comparable clinical and neuroimaging picture but they can differ from each other in terms of rate of disease progression PMID: 26643067
6. our data indicate that TUBB4A coding mutations do not play a critical role in the broad population of isolated dystonia patients PMID: 26318963
7. a paclitaxel-resistant beta-tubulin isotype, betaIVa-tubulin, was the most up-regulated gene compared with other beta-tubulin isotypes in H460 floating cells, concomitant with elevated ERK activation PMID: 26375501
8. The study adds complicated hereditary spastic paraplegia to the clinical spectrum of TUBB4A-associated neurological disorders. PMID: 25772097
9. Data suggested H-ABC and DYT4 belong to a continuous phenotypic spectrum associated with TUBB4A mutations. PMID: 25545912
10. Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). PMID: 24706558
11. Novel TUBB4A mutations expands the phenotype of TUBB4A-related hypomyelinating conditions beyond hypomyelination with atrophy of the basal ganglia and cerebellum. PMID: 25085639
12. This study demonistrated that Hypomyelination with atrophy of the basal ganglia and cerebellum with TUBB4A mutation. PMID: 24785942
13. TUBB4A mutations cause typical hypomyelinating leukoencephalopathies. PMID: 24850488
14. The c.4C>G DYT4 mutation appears to be private, and clinical testing for TUBB4A mutations is not justified in spasmodic dysphonia or other forms of primary dystonia PMID: 24598712
15. This study demonistrated that TUBB4A mutation in the autoregulatory domain cause hereditary dystonia. PMID: 23424103
16. This study provided strong evidence supporting the causative role of a mutation in TUBB4, altering a highly conserved and functionally important amino acid, in DYT4 dystonia. PMID: 23595291
17. Data indicate that leucine-rich repeat kinase 2 (LRRK2) selectively interacts with three beta-tubulin isoforms: TUBB, TUBB4, and TUBB6. PMID: 24275654
18. DYT4 is a familial form of dystonia unrelated to known dystonia genes and loci. Phenotypic expression is variable, ranging from isolated spasmodic dysphonia (often with mild craniocervical dystonia) to severe generalized dystonia. PMID: 21956287
19. A de novo mutation in the beta-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. PMID: 23582646
20. Destruction of the beta-tubulin:CCT-beta complex provokes Hsp90-dependent protein ubiquitination and degradation. PMID: 23190606
21. Data show six differentially expressed proteins were identified as HSP70, PPIA and alpha-Enolase (up-regulated) S100-A9, PIMT and beta-5 tubulin (down-regulated), most of which had been shown to play a potential role in the pathogenesis of atherosclerosis. PMID: 21839816
22. The results provide the first evidence that a specific isoform of beta-tubulin is required for mitosis. PMID: 18553364
23. Suggest that nuclear accumulation of soluble tubulin is part of an intrinsic defense mechanism, which tends to limit cell proliferation under pathological conditions. PMID: 19299461

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HGNC: 20774

OMIM: 128101

KEGG: hsa:10382

STRING: 9606.ENSP00000264071

UniGene: Hs.110837