期刊
NATURE GENETICS
卷 39, 期 12, 页码 1434-1436出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2007.43
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资金
- Medical Research Council [G108/638] Funding Source: researchfish
- MRC [G108/638] Funding Source: UKRI
- Intramural NIH HHS Funding Source: Medline
- Medical Research Council [G108/638] Funding Source: Medline
The microtubule-associated protein tau ( encoded by MAPT) and several tau kinases have been implicated in neurodegeneration, but only MAPT has a proven role in disease. We identified mutations in the gene encoding tau tubulin kinase 2 ( TTBK2) as the cause of spinocerebellar ataxia type 11. Affected brain tissue showed substantial cerebellar degeneration and tau deposition. These data suggest that TTBK2 is important in the tau cascade and in spinocerebellar degeneration.
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