Ontology highlight
ABSTRACT:
SUBMITTER: Joseph N
PROVIDER: S-EPMC5990496 | biostudies-literature | 2018 May
REPOSITORIES: biostudies-literature
Joseph Nimesh N Al-Jassar Caezar C Johnson Christopher M CM Andreeva Antonina A Barnabas Deepak D DD Freund Stefan M V SMV Gergely Fanni F van Breugel Mark M
Cell reports 20180501 9
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 that the ciliopathy-associated centriolar protein CEP120 contains three C2 domains. The point mutations V194A and A199P, which cause Joubert syndrome (JS) and Jeune asphyxiating thoracic dystrophy (JAT ...[more]