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Article

CEP290 deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids.

Journal of cell science - 15 Oct 2025

Eschment Melanie, Mercey Olivier, Aarts Ellen M, Perego Ludovico, Figueiro-Silva Joana, Mennel Michelle, Abidi Affef, Generali Melanie, Rauch Anita, Guichard Paul, Hamel Virginie, Bachmann-Gagescu Ruxandra

Abstract excerpt

Primary cilia are ubiquitous sensory organelles mediating various signaling modalities essential for development and cell homeostasis. Their dysfunction leads to ciliopathies, human disorders often affecting the central nervous system. CEP290 is a major ciliopathy-associated gene that encodes a centrosomal and ciliary transition zone protein. CEP290 has been implicated in different cellular functions, including...

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Identifiers

PMID: 41064933
DOI: 10.1242/jcs.264092
PMCID: PMC12633733

Genes

CEP290

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