Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors.
Abigail R. Moye, Michael A. Robichaux, Melina A. Agosto, Carlo Rivolta, Alexandre Moulin, Theodore G. Wensel
This study investigates the role of CEP290 in photoreceptor ciliary structure and outer segment formation in mice, finding defects in ciliary necklace and Y-links, and altered distribution of transition zone proteins.
bioRxiv · Jan 20, 2025 · PreprintCell Biology