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ProteomicsA novel TTBK2 missense variant causes loss of function and impaired protein phosphorylation: implications for spinocerebellar ataxia type 11
Spinocerebellar ataxia type 11 (SCA11) is a rare form of autosomal dominant cerebellar ataxia, characterized by a relatively slow progression and normal life expectancy. However, it is a highly debilitating disorder. In 2007, SCA11 was genetically linked to TTBK2, which encodes tau tubulin kinase 2 ...
ORGANISM(S): Homo sapiens (Human) 
2025-12-22 | PXD056662 | Pride
Spinocerebellar ataxia type 11 (sca11)  tau-tubulin kinase 2 (ttbk2)  crispr/cas9  kinase activity  phosphoproteomics  cytoskeleton 
UnknownTTBK2 T3290C mutation in spinocerebellar ataxia 11 interferes with ciliogenesis.
Not available
S-EPMC11459611 | biostudies-literature
UnknownTTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development.
Not available
S-EPMC3739326 | biostudies-literature
UnknownThe spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis.
Not available
S-EPMC3496184 | biostudies-literature
UnknownTTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons.
Not available
S-EPMC7028366 | biostudies-literature
UnknownMissense variant in TTBK2 kinase domain causes loss of function and impaired protein phosphorylation.
Not available
S-EPMC12820296 | biostudies-literature
UnknownThe crystal structure of the catalytic domain of tau tubulin kinase 2 in complex with a small-molecule inhibitor.
Not available
S-EPMC7057351 | biostudies-literature
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