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

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 p...

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Detalles Bibliográficos
Autores principales: Bowie, Emily, Norris, Ryan, Anderson, Kathryn V., Goetz, Sarah C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307817/
https://www.ncbi.nlm.nih.gov/pubmed/30532139
http://dx.doi.org/10.1371/journal.pgen.1007844

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307817/
https://www.ncbi.nlm.nih.gov/pubmed/30532139
http://dx.doi.org/10.1371/journal.pgen.1007844

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