TTBK2 mutations associated with spinocerebellar ataxia type 11 disrupt peroxisome dynamics and ciliary localization of SHH signaling proteins

Frameshift mutations in Tau Tubulin Kinase 2 (TTBK2) cause spinocerebellar ataxia type 11 (SCA11), which is characterized by the progressive loss of Purkinje cells and cerebellar atrophy. Previous work showed that these TTBK2 variants generate truncated proteins that interfere with primary ciliary t...

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Detalles Bibliográficos
Autores principales: Muñoz-Estrada, Jesús, Nguyen, Abraham V., Goetz, Sarah C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915595/
https://www.ncbi.nlm.nih.gov/pubmed/36778451
http://dx.doi.org/10.1101/2023.01.31.526333

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915595/
https://www.ncbi.nlm.nih.gov/pubmed/36778451
http://dx.doi.org/10.1101/2023.01.31.526333

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