TTBK2 kinase: linking primary cilia and cerebellar ataxias.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 23141531.
- Also identified by DOI 10.1016/j.cell.2012.10.027.
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Abstract
Mutations disrupting primary cilia cause retinal, renal, and cerebellar defects, and misregulated Sonic hedgehog signaling. A new mouse mutant in the TTBK2 kinase fails to make cilia, and shows neural tube and Sonic hedgehog signaling defects. Ciliary targeting mutations in human TTBK2 are linked to spinocerebellar ataxia, suggesting cilia protect from neurodegeneration.