Citations for
1CACNA1B, DYT23, DYT26, DYT4, KCTD17, TUBB4A
Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.
Domingo A, Erro R, Lohmann K.
Mov Disord 31(4):471-7. doi: 10.1002/mds.26600. Review. 2016
2DYT4, TUBB4A
Large-scale TUBB4A mutational screening in isolated dystonia and controls.
Zech M, Boesch S, Jochim A, Graf S, Lichtner P, Peters A, Gieger C, Mueller J, Poewe W, Haslinger B, Winkelmann J.
Parkinsonism Relat Disord 21(10):1278-81. doi: 10.1016/j.parkreldis.2015.08.017. 2015
3HABC, PLP1, TUBB4A
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.
Shimojima K, Okumura A, Ikeno M, Nishimura A, Saito A, Saitsu H, Matsumoto N, Yamamoto T.
Brain Dev rain Dev. 2014 Jun 26. pii: S0387-7604(14)00131-4. doi: 10.1016/j.braindev.2014.05.004. [Epub ahead of print] 2014
4HABC, TUBB4A
A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum.
Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, Chudnow RS, van Coster R, Lagae L, Kisler J, Sperner J, van der Knaap MS, Schiffmann R, Taft RJ, Vanderver A.
Am J Hum Genet 92(5):767-73. doi: 10.1016/j.ajhg.2013.03.018. Epub 2013 Apr 11. 2013
5DYT4, TUBB4A
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
Hersheson J, Mencacci NE, Davis M, Macdonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H.
Ann Neurol nn Neurol. 2012 Dec 13. doi: 10.1002/ana.23832. [Epub ahead of print] 2012
6TUBB, TUBB1, TUBB2A, TUBB2B, TUBB3, TUBB4A
Tumoral and tissue-specific expression of the major human beta-tubulin isotypes.
Leandro-García LJ, Leskelä S, Landa I, Montero-Conde C, López-Jiménez E, Letón R, Cascón A, Robledo M, Rodríguez-Antona C.
Cytoskeleton (Hoboken) 67(4):214-23.PMID: 20191564 2010
7TUBA1C, TUBB1, TUBB3, TUBB4A
HIV-1 Tat targets microtubules to induce apoptosis, a process promoted by the pro-apoptotic Bcl-2 relative Bim.
Chen D, Wang M, Zhou S, Zhou Q.
EMBO J 21(24):6801-10. 2002
8TUBB4A
Sequence of an expressed human beta-tubulin gene containing ten Alu family members.
Lee MG, Loomis C, Cowan NJ.
Nucleic Acids Res 12(14):5823-36. 1984
9TUBB, TUBB4A
Identification of two human beta-tubulin isotypes.
Hall JL, Dudley L, Dobner PR, Lewis SA, Cowan NJ.
Mol Cell Biol 3(5):854-62. 1983