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Cover Image for Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis. View Article
Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.
Nimesh Joseph, Caezar Al-Jassar, Christopher M Johnson, Antonina Andreeva, Deepak D Barnabas, Stefan MV Freund, Fanni Gergely, Mark van Breugel
Aug 16, 2018
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...
CEP120 JATD Jeuene syndrome Joubert syndrome basal body centriole Centrosome Cilia ciliopathy 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
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