Article

Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors

2025-01-20

Abstract excerpt

The most common genetic cause of the childhood blinding disease Leber Congenital Amaurosis is mutation of the ciliopathy gene CEP290 . Though studied extensively, the photoreceptor-specific roles of CEP290 remain unclear. Using advanced microscopy techniques, we investigated the sub-ciliary localization of CEP290 and its role in mouse photoreceptors during development. CEP290 was found throughout the connecting c...

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Literature Corpus work: a2ab04b3-d5b9-5675-b217-e7de8397827b
DOI: 10.1101/2025.01.20.633784

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