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Article

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

Science advances - 17 Oct 2025

Khan Kamal, Tavares Erika, Bishara Katherine, Ozanturk Aysegul, Qebibo Leila, Frangakis Stephan, Calame Daniel G, Meunier Isabelle, Bocquet Béatrice, Ploski Rafal, Al Khateeb Mohammad Ayman, Marafi Dana, Mansard Luke, Damaj Lena, Lewis Richard A, Ullah Farid, Arbogast Thomas, Ogden Jackson P, Harion Madeleine, Willems Marjolaine, Zaki Maha S, Bartolomaeus Tobias, Roux Anne-Françoise, Lupski James R, Rydzanicz Malgorzata, Jamra Rami Abou, Ramond Francis, Heon Elise, Burglen Lydie, Davis Erica E

Abstract excerpt

Dysfunction at the centrosome-cilium interface underlies a broad range of ciliopathies. Here, we identify biallelic variants in CEP76, encoding a centrosomal protein, in eight unrelated individuals presenting with neurodevelopmental, ocular, and variable additional multisystem features. Proband-derived fibroblasts and CEP76-depleted RPE1 cells display ciliary deficits, including impaired cilium formation and...

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Source

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Identifiers

PMID: 41105778
DOI: 10.1126/sciadv.adw3717
PMCID: PMC12533646

Genes

CEP76
ALMS1
CCP110
CEP97
IFT88
LUZP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.PMID 41105778Read ↗

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