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

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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Bibliographic Details
Main Authors: Nimesh Joseph, Caezar Al-Jassar, Christopher M. Johnson, Antonina Andreeva, Deepak D. Barnabas, Stefan M.V. Freund, Fanni Gergely, Mark van Breugel
Format: Article
Language:English
Published: Elsevier 2018-05-01
Series:Cell Reports
Subjects:
centriole
centrosome
basal body
cilia
ciliopathy
CEP120
Joubert syndrome
JATD
Jeuene syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S2211124718306788

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http://www.sciencedirect.com/science/article/pii/S2211124718306788

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