Article

Spinocerebellar ataxia type 11-associated alleles of <i>Ttbk2</i> dominantly interfere with ciliogenesis and cilium stability

2018-03-01

Abstract excerpt

Spinocerebellar ataxia type 11 (SCA11) is a rare, dominantly inherited human ataxia characterized by atrophy of Purkinje neurons in the cerebellum. SCA11 is caused by mutations in the gene encoding the Serine/Threonine kinase Tau tubulin kinase 2 (TTBK2) that result in premature truncations of the protein. We previously showed that TTBK2 is a key regulator of the assembly of primary cilia in vivo . However, the m...

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Literature Corpus work: 40fb73ff-2c32-57a4-ace9-d6c18670df19
DOI: 10.1101/274266

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