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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 show that the ciliopathy-associated centriolar protein CEP120 contains three C2 domains. The point mutations V194A and...

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Identifiers

PMID: 29847808
DOI: 10.1016/j.celrep.2018.04.100
PMCID: PMC5990496

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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