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SCA11
Introduction
Tau tubulin kinase 2 is a protein in humans that is encoded by the TTBK2 gene. [1] This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem.[2]
References
References
- ↑ “Entrez Gene: Tau tubulin kinase 2”. Retrieved 2012-06-11.
- ↑ Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW (December 2007). “Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11”. Nature Genetics. 39 (12): 1434–1436. doi:10.1038/ng.2007.43. PMID 18037885.
Further reading
Further reading
- Edener, U.; Kurth, I.; Meiner, A.; Hoffmann, F.; Hübner, C. A.; Bernard, V.; Gillessen-Kaesbach, G.; Zühlke, C. (2009). “Missense exchanges in the TTBK2 gene mutated in SCA11”. Journal of Neurology. 256 (11): 1856–1859. doi:10.1007/s00415-009-5209-0. PMID 19533200.
- Dgany, O.; Avidan, N.; Delaunay, J.; Krasnov, T.; Shalmon, L.; Shalev, H.; Eidelitz-Markus, T.; Kapelushnik, J.; Cattan, D.; Pariente, A.; Tulliez, M.; Crétien, A.; Schischmanoff, P. O.; Iolascon, A.; Fibach, E.; Koren, A.; Rössler, J.; Le Merrer, M.; Yaniv, I.; Zaizov, R.; Ben-Asher, E.; Olender, T.; Lancet, D.; Beckmann, J. S.; Tamary, H. (2002). “Congenital Dyserythropoietic Anemia Type I is Caused by Mutations in Codanin-1”. The American Journal of Human Genetics. 71 (6): 1467–1474. doi:10.1086/344781. PMC 378595. PMID 12434312.
- Worth, P. F.; Giunti, P.; Gardner-Thorpe, C.; Dixon, P. H.; Davis, M. B.; Wood, N. W. (1999). “Autosomal Dominant Cerebellar Ataxia Type III: Linkage in a Large British Family to a 7.6-cM Region on Chromosome 15q14-21.3”. The American Journal of Human Genetics. 65 (2): 420–426. doi:10.1086/302495. PMC 1377940. PMID 10417284.
- Kitano-Takahashi, M.; Morita, H.; Kondo, S.; Tomizawa, K.; Kato, R.; Tanio, M.; Shirota, Y.; Takahashi, H.; Sugio, S.; Kohno, T. (2007). “Expression, purification and crystallization of a human tau-tubulin kinase 2 that phosphorylates tau protein”. Acta Crystallographica Section F. 63 (7): 602–604. doi:10.1107/S1744309107028783. PMC 2335129. PMID 17620722.
- Xu, Q.; Li, X.; Wang, J.; Yi, J.; Lei, L.; Shen, L.; Jiang, H.; Xia, K.; Pan, Q.; Tang, B. (2009). “Spinocerebellar ataxia type 11 in the Chinese Han population”. Neurological Sciences. 31 (1): 107–109. doi:10.1007/s10072-009-0129-4. PMID 19768375.
- Houlden, H.; Johnson, J.; Gardner-Thorpe, C.; Lashley, T.; Hernandez, D.; Worth, P.; Singleton, A. B.; Hilton, D. A.; Holton, J.; Revesz, T.; Davis, M. B.; Giunti, P.; Wood, N. W. (2007). “Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11”. Nature Genetics. 39 (12): 1434–1436. doi:10.1038/ng.2007.43. PMID 18037885.
- Houlden, H.; Pagon, R. A.; Bird, T. D.; Dolan, C. R.; Stephens, K.; Adam, M. P. (1993). “Spinocerebellar Ataxia Type 11”. PMIDÂ 20301723.
- Brusco, A.; Gellera, C.; Cagnoli, C.; Saluto, A.; Castucci, A.; Michielotto, C.; Fetoni, V.; Mariotti, C.; Migone, N.; Di Donato, S.; Taroni, F. (2004). “Molecular Genetics of Hereditary Spinocerebellar Ataxia: Mutation Analysis of Spinocerebellar Ataxia Genes and CAG/CTG Repeat Expansion Detection in 225 Italian Families”. Archives of Neurology. 61 (5): 727–733. doi:10.1001/archneur.61.5.727. PMID 15148151.
- Crockett, D. K.; Fillmore, G. C.; Elenitoba-Johnson, K. S. J.; Lim, M. S. (2005). “Analysis of phosphatase and tensin homolog tumor suppressor interacting proteins byin vitro andin silico proteomics”. Proteomics. 5 (5): 1250–1262. doi:10.1002/pmic.200401046. PMID 15717329.