Genomes and Genes
Gene Symbol: TTBK2
Description: tau tubulin kinase 2
Alias: SCA11, TTBK, tau-tubulin kinase 2
- Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3P F Worth
Department of Clinical Neurology, Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom
Am J Hum Genet 65:420-6. 1999..We excluded linkage of the disease phenotype to this region in the second family. These results indicate the presence of two additional ADCA III loci and more clearly define the genetic heterogeneity of ADCA III...
- Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a modelAndrea H Nemeth
1 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK
Brain 136:3106-18. 2013..Our pathogenicity interpretation pathway predicted 13 different mutations in eight different genes: PRKCG, TTBK2, SETX, SPTBN2, SACS, MRE11, KCNC3 and DARS2 of which nine were novel including one causing a newly described ..
- Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingMoumita Chaki
Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA
Cell 150:533-48. 2012..Our findings link degenerative diseases of the kidney and retina, disorders of increasing prevalence, to mechanisms of DDR...
- TTBK2 Kinase: Linking Primary Cilia and Cerebellar AtaxiasPeter K Jackson
Genentech Inc, 1 DNA Way, South San Francisco, CA 94070, USA Electronic address
Cell 151:697-9. 2012..A new mouse mutant in the TTBK2 kinase fails to make cilia, and shows neural tube and Sonic hedgehog signaling defects...
- The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesisSarah C Goetz
Developmental Biology Program, Sloan Kettering Institute, 1275 York Avenue, New York, NY 10065, USA
Cell 151:847-58. 2012..Here, we show that Tau tubulin kinase 2 (TTBK2) is a dedicated regulator of the initiation of ciliogenesis in vivo...
- Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristicsShinsuke Fujioka
Department of Neurology at Mayo Clinic, 4500 San Pablo Road Cannaday Bldg 2 E, Jacksonville, FL 32224, USA
Orphanet J Rare Dis 8:14. 2013..The incidence of ADCA Type III is unknown. ADCA Type III consists of six subtypes, SCA5, SCA6, SCA11, SCA26, SCA30, and SCA31. The subtype SCA6 is the most common...
- Centriole distal appendages promote membrane docking, leading to cilia initiationBarbara E Tanos
Cell Biology Program, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA
Genes Dev 27:163-8. 2013..Undocked centrioles fail to recruit TTBK2 or release CP110, the two earliest modifications found on centrioles prior to cilia assembly, revealing centriole-..
- Electrochemical investigations into kinase-catalyzed transformations of tau proteinMeghan K Rains
Department of Physical and Environmental Sciences, University of Toronto Scarborough, 1265 Military Trail, Toronto, ON, M1C1A4, Canada
ACS Chem Neurosci 4:1194-203. 2013..of the following protein kinases: Sarcoma related kinase (Src), Abelson tyrosine kinase (Abl), tau-tubulin kinase (TTBK), proto-oncogene tyrosine protein kinase Fyn (Fyn), and glycogen synthase kinase 3-β (Gsk-3β)...
- Upregulation of Na+,Cl(-)-coupled betaine/γ-amino-butyric acid transporter BGT1 by Tau tubulin kinase 2Ahmad Almilaji
Department of Physiology, University of Tubingen, Tubingen, Germany
Cell Physiol Biochem 32:334-43. 2013..Loss of function mutations of TTBK2 lead to autosomal dominant spinocerebellar ataxia type 11 (SCA11). Cell survival is fostered by cellular accumulation of organic osmolytes...
- PRKX, TTBK2 and RSK4 expression causes Sunitinib resistance in kidney carcinoma- and melanoma-cell linesClaus Bender
Department of Molecular Biology, Max Planck Institute, Martinsried, Germany
Int J Cancer 131:E45-55. 2012..PRKX, TTBK2 and RSK4 expression...
- Brain pathology of spinocerebellar ataxiasKay Seidel
Dr Senckenbergisches Chronomedizinisches Institut, Goethe University, Theodor Stern Kai 7, 60950, Frankfurt Main, Germany
Acta Neuropathol 124:1-21. 2012..g. retinal degeneration in SCA7, tau aggregation in SCA11, dentate calcification in SCA20, protein depositions in the Purkinje cell layer in SCA31, azoospermia in SCA32, ..
- Upregulation of Na-coupled glucose transporter SGLT1 by Tau tubulin kinase 2Ioana Alesutan
Department of Physiology, University of Tubingen, Gmelinstrasse 5, Tubingen, Germany
Cell Physiol Biochem 30:458-65. 2012The Tau-tubulin-kinase 2 (TTBK2) is a serine/threonine kinase expressed in various tissues including tumors. Up-regulation of TTBK2 increases resistance of tumor cells against antiangiogenic treatment and confers cell survival...
- Tau-tubulin kinase 1 expression, phosphorylation and co-localization with phospho-Ser422 tau in the Alzheimer's disease brainHarald Lund
Neuroscience Department, AstraZeneca R and D, Sodertalje, Sweden
Brain Pathol 23:378-89. 2013..These data suggest a role for TTBK1 in pre-tangle formation prior to the formation of fibrillar tau and strengthen the idea that tau is phosphorylated at Ser422 at an early/intermediate stage in NFT formation...
- Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic casesJunling Wang
Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
Zhong Nan Da Xue Xue Bao Yi Xue Ban 36:482-9. 2011..To undertake an updated genetic spectrum analysis in patients with hereditary spinocerebellar ataxia (SCA) in mainland China...
- TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and developmentMichale Bouskila
MRC Protein Phosphorylation Unit, College of Life Sciences, University of Dundee, Dow Street, Dundee DD1 5EH, Scotland, U K
Biochem J 437:157-67. 2011Mutations that truncate the C-terminal non-catalytic moiety of TTBK2 (tau tubulin kinase 2) cause the inherited, autosomal dominant, SCA11 (spinocerebellar ataxia type 11) movement disorder...
- Tau-tubulin kinase-1 gene variants are associated with Alzheimer's disease in Han ChineseNan Nan Yu
Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao 266071, China
Neurosci Lett 491:83-6. 2011..78, P=0.037). This study provides the evidence that variations in the TTBK1 gene may play an important role in the pathogenesis of sporadic LOAD in a Han Chinese population...
- Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyondAlexandra Durr
Université Pierre et Marie Curie Paris, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, UMR S975, Paris, France
Lancet Neurol 9:885-94. 2010..signalling (SCA15/16/ITPR1), channel function (SCA13/KCNC3, SCA14/PRKCG, SCA27/FGF14), tau regulation (SCA11/TTBK2), and mitochondrial activity (SCA28/AFG3L2) or RNA alteration (SCA31/BEAN-TK2)...
- Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindredsPeter Bauer
Department of Medical Genetics, University of Tubingen, Tubingen, Germany
J Neurol Neurosurg Psychiatry 81:1229-32. 2010..Recently, a large British pedigree linked to SCA11 has been reported to carry a mutation in the TTBK2 gene...
- Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15Anne Weissbach
Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Luübeck, Luübeck, Germany
Mov Disord 25:1577-82. 2010..The maximum model-based multipoint LOD score was 1.75. This region is only 4.3 Mb away from the SCA11 (TTBK2) gene...
- Tau-tubulin kinase 1 enhances prefibrillar tau aggregation and motor neuron degeneration in P301L FTDP-17 tau-mutant miceJiqing Xu
Department of Pharmacology and Experimental Neuroscience and Center for Neurodegenerative Disorders, University of Nebraska Medical Center, Omaha, Nebraska 68198 5930, USA
FASEB J 24:2904-15. 2010..These data suggest that TTBK1 up-regulation enhances tau phosphorylation and oligomerization, whose toxicity results in enhanced neurodegeneration and locomotor dysfunction in a tauopathy animal model...
- Tau-tubulin kinase phosphorylates tau at Ser-208 and Ser-210, sites found in paired helical filament-tauK Tomizawa
Project 8, Mitsubishi Kasei Institute of Life Sciences, Machida shi, Tokyo, Japan
FEBS Lett 492:221-7. 2001..Our immunoblot analysis demonstrated that TTK is ubiquitously distributed in the rat tissues, and that it is developmentally regulated in the rat brain...
- Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsyA Filla
Department of Neurological Sciences, Federico II University, Naples, Italy
Neurology 58:922-8. 2002..To perform a clinical and molecular study of a large autosomal dominant family with a complex neurologic syndrome that comprises early-onset dementia, extrapyramidal and cerebellar features, and epilepsy...
- Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1Orly Dgany
Pediatric Hematology Laboratory, Felsenstein Research Center, Rabin Medical Center, Petah Tikva, Israel
Am J Hum Genet 71:1467-74. 2002..The specific mechanisms by which codanin-1 underlies normal erythropoiesis remain to be elucidated...
- A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23Ming Yi Chung
Department of Medical Research and Education, Taipei Veterans General Hospital, and Genome Research Centre, National Yang Ming University, Taiwan
Brain 126:1293-9. 2003..Six additional loci, SCA4, SCA5, SCA11, SCA13, SCA14 and SCA16 have also been mapped...
- Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian familiesAlfredo Brusco
Dipartimento di Genetica, Biologia e Biochimica, Università di Torino and Unitá Operativa Genetica Medica, Ospedale San Giovanni Battista di Torino, Torino, Italy
Arch Neurol 61:727-33. 2004....
- Tau-tubulin kinase 1 (TTBK1), a neuron-specific tau kinase candidate, is involved in tau phosphorylation and aggregationShinji Sato
Center for Neurovirology and Neurodegenerative Disorders, Department of Pharmacology and Experimental Neuroscience, University of Nebraska Medical Center, Omaha, Nebraska 68198 5880, USA
J Neurochem 98:1573-84. 2006..We conclude that TTBK1 is a neuron-specific dual kinase involved in tau phosphorylation at AD-related sites and is also associated with tau aggregation...
- Expression, purification and crystallization of a human tau-tubulin kinase 2 that phosphorylates tau proteinMichiko Kitano-Takahashi
Mitsubishi Kagaku Institute of Life Sciences, 11 Minamiooya, Machida, Tokyo 194 8511, Japan
Acta Crystallogr Sect F Struct Biol Cryst Commun 63:602-4. 2007Tau-tubulin kinase 2 (TTBK2) is a Ser/Thr kinase that putatively phosphorylates residues Ser208 and Ser210 (numbered according to a 441-residue human tau isoform) in tau protein...
- Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11Henry Houlden
Department of Molecular Neuroscience, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
Nat Genet 39:1434-6. 2007..We identified mutations in the gene encoding tau tubulin kinase 2 (TTBK2) as the cause of spinocerebellar ataxia type 11...
- Clinical and genetic analysis of spinocerebellar ataxia type 11Janel Johnson
Neurogenetics, Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London WC1N 3BG, UK
Cerebellum 7:159-64. 2008..Here we update readers on the current progress on SCA11 and the identification of the disease gene...
- Spatial learning impairment, enhanced CDK5/p35 activity, and downregulation of NMDA receptor expression in transgenic mice expressing tau-tubulin kinase 1Shinji Sato
Department of Pharmacology and Experimental Neuroscience and Center for Neurovirology and Neurodegenerative Disorders, University of Nebraska Medical Center, Omaha, Nebraska 68198 5880, USA
J Neurosci 28:14511-21. 2008..These data suggest that TTBK1 in AD brain may be one of the underlying mechanisms inducing CDK5 and calpain activation, NR2B downregulation, and subsequent memory dysfunction...
- Missense exchanges in the TTBK2 gene mutated in SCA11Ulf Edener
Institut fur Humangenetik, Universitat zu Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
J Neurol 256:1856-9. 2009..Recently, two frameshift mutations in the tau tubulin kinase 2 gene (TTBK2) were reported to cause SCA11...
- Spinocerebellar ataxia type 11 in the Chinese Han populationQian Xu
Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, China
Neurol Sci 31:107-9. 2010..Researchers have recently found that SCA type 11 (SCA11) is associated with mutations in the TTBK2 gene...
- Asator, a tau-tubulin kinase homolog in Drosophila localizes to the mitotic spindleHongying Qi
Department of Biochemistry, Biophysics, and Molecular Biology, Iowa State University, Ames, Iowa 50011, USA
Dev Dyn 238:3248-56. 2009..The finding that Asator localizes to the spindle region during mitosis and directly can interact with Megator suggests that its kinase activity may be involved in regulating microtubule dynamics and microtubule spindle function...
- [Molecular genetic approach to spinocerebellar ataxias]Kinya Ishikawa
Department of Neurology and Neurological Sciences, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan
Rinsho Shinkeigaku 49:907-9. 2009..dynamic mutations, static mutations, such as missense mutations and deletions, have been identified to cause SCA5, SCA11, SCA13, SCA14, SCA15 and SCA27...
- Genetic variations in tau-tubulin kinase-1 are linked to Alzheimer's disease in a Spanish case-control cohortJosé Luis Vázquez-Higuera
Neurology Service and CIBERNED, Marques de Valdecilla University Hospital, University of Cantabria, Avda Valdecilla, 39008 Santander, Spain
Neurobiol Aging 32:550.e5-9. 2011..57, p=0.023), which are in strong linkage disequilibrium, had a lower risk of developing AD than subjects homozygotes and heterozygotes for the major allele. TTBK1 is a promising new candidate tau phosphorylation-related gene for AD risk...
- Bioinformatic search of plant microtubule-and cell cycle related serine-threonine protein kinasesPavel A Karpov
Institute of Food Biotechnology and Genomics, National Academy of Sciences of Ukraine, Kyiv, Ukraine
BMC Genomics 11:S14. 2010..in regulation of cell division and microtubule protein phosphorylation (SLK, PAK6, PAK7, MARK1, MAST2, TTBK1, TTBK2, AURKA, PLK1, PLK4 and PASK). A number of SLK, MAST2 and AURKA plant homologues were identified...
- A novel tau-tubulin kinase from bovine brainM Takahashi
Mitsubishi Kasei Institute of Life Sciences Project 2, Tokyo, Japan
FEBS Lett 372:59-64. 1995..The enzyme requires no second messenger and is inhibited with high concentration of heparin, but not by inhibitors of CKI. These results indicate that this enzyme, tau-tubulin kinase is novel and distinct from TPKI, II and CKI, II...