Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis

Ciliopathies are a group of genetic disorders caused by a failure to form functional cilia. Due to a lack of structural information, it is currently poorly understood how ciliopathic mutations affect protein functionality to give rise to the underlying disease. Using X-ray crystallography, we show t...

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Detalles Bibliográficos
Autores principales: Joseph, Nimesh, Al-Jassar, Caezar, Johnson, Christopher M., Andreeva, Antonina, Barnabas, Deepak D., Freund, Stefan M.V., Gergely, Fanni, van Breugel, Mark
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990496/
https://www.ncbi.nlm.nih.gov/pubmed/29847808
http://dx.doi.org/10.1016/j.celrep.2018.04.100

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990496/
https://www.ncbi.nlm.nih.gov/pubmed/29847808
http://dx.doi.org/10.1016/j.celrep.2018.04.100

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