Article
Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.
Cell reports - 29 May 2018
Joseph Nimesh, Al-Jassar Caezar, Johnson Christopher M, Andreeva Antonina, Barnabas Deepak D, Freund Stefan M V, Gergely Fanni, van Breugel Mark
Abstract excerpt
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 sho...
Topics
- Amino Acid Sequence
- Animals
- Cell Cycle
- Cell Cycle Proteins
- Cell Line
- Centrioles
- Centrosome
- Cilia
- Mice
- Models, Molecular
- Mutation
- Organogenesis
- Protein Domains
- Protein Stability
- Temperature
- Zebrafish