Open AccessTTBK2 Kinase: Linking Primary Cilia and Cerebellar Ataxias
Author(s) -
Peter K. Jackson
Publication year - 2012
Publication title -
cell
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 26.304
H-Index - 776
eISSN - 1097-4172
pISSN - 0092-8674
DOI - 10.1016/j.cell.2012.10.027
Subject(s) - cilium , biology , sonic hedgehog , microbiology and biotechnology , neuroscience , spinocerebellar ataxia , neurodegeneration , cerebellum , signal transduction , ataxia , medicine , disease
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.
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