TTBK2 Kinase: Linking Primary Cilia and Cerebellar Ataxias
نویسنده
چکیده
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.
منابع مشابه
The Spinocerebellar Ataxia-Associated Gene Tau Tubulin Kinase 2 Controls the Initiation of Ciliogenesis
The primary cilium has critical roles in human development and disease, but the mechanisms that regulate ciliogenesis are not understood. Here, we show that Tau tubulin kinase 2 (TTBK2) is a dedicated regulator of the initiation of ciliogenesis in vivo. We identified a null allele of mouse Ttbk2 based on loss of Sonic hedgehog activity, a signaling pathway that requires the primary cilium. Desp...
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متن کاملAutosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
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متن کاملSpinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.
BACKGROUND At least 28 loci have been linked to autosomal dominant spinocerebellar ataxia (ADCA). Causative genes have been cloned for 10 nucleotide repeat expansions (SCA1, 2, 3, 6, 7, 8, 10, 12, 17 and 31) and six genes with classical mutations (SCA5, 13, 14, 15/16, 27 and 28). Recently, a large British pedigree linked to SCA11 has been reported to carry a mutation in the TTBK2 gene. In order...
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ورودعنوان ژورنال:
- Cell
دوره 151 شماره
صفحات -
تاریخ انتشار 2012