ArticleJCI insight2021
Super-resolution microscopy reveals photoreceptor-specific subciliary location and function of ciliopathy-associated protein CEP290.
Article in JCI insight, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 31 citations in OpenAlex.
- Tubulin hyperglutamylation induces retinal degeneration by disrupting ciliary architecture and protein trafficking.Zoological research · 2026Article
- Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy.American journal of human genetics · 2026Article
- Super-resolution microscopy reveals a Rab6a-dependent trafficking hub for rhodopsin at the mammalian rod photoreceptor Golgi.Biology open · 2025Article
- Sub-ciliary localization of CEP290 and effects of its loss in mouse photoreceptors during development.Journal of cell science · 2025Article
- Advances in high-resolution imaging of centrioles and cilia.Journal of cell science · 2025Review
- CEP290 deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids.Journal of cell science · 2025Article
- Super-resolution microscopy reveals a Rab6a-dependent trafficking hub for rhodopsin at the mammalian rod photoreceptor Golgi.bioRxiv : the preprint server for biology · 2025Article
- Mapping Protein Distribution in the Canine Photoreceptor Sensory Cilium and Calyceal Processes by Ultrastructure Expansion Microscopy.Investigative ophthalmology & visual science · 2025Article
- Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors.bioRxiv : the preprint server for biology · 2025Article
- Mapping protein distribution in the canine photoreceptor sensory cilium and calyceal processes by ultrastructure expansion microscopy.bioRxiv : the preprint server for biology · 2024Article
- Centriole and transition zone structures in photoreceptor cilia revealed by cryo-electron tomography.Life science alliance · 2024Article
- Super-resolution mapping in rod photoreceptors identifies rhodopsin trafficking through the inner segment plasma membrane as an essential subcellular pathway.PLoS biology · 2024Article
- Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide inAmerican journal of ophthalmology case reports · 2023Article
- Article
- Eupatilin improves cilia defects in human CEP290 ciliopathy models.bioRxiv : the preprint server for biology · 2023Article
- The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1.Nature communications · 2023Article
- Expansion Microscopy of Mouse Photoreceptor Cilia.Advances in experimental medicine and biology · 2023Article
- Comparative analysis of transcriptional changes in zebrafishFrontiers in molecular neuroscience · 2023Article
- Extracellular vesicles highlight many cases of photoreceptor degeneration.Frontiers in molecular neuroscience · 2023Review
- Single-molecule imaging in the primary cilium.Methods in cell biology · 2023Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in the cilium-associated protein CEP290 cause retinal degeneration as part of multiorgan ciliopathies or as retina-specific diseases. The precise location and the functional roles of CEP290 within cilia and, specifically, the connecting cilia (CC) of photoreceptors, remain unclear. We used super-resolution fluorescence microscopy and electron microscopy to localize CEP290 in the CC and in the primary cilia of cultured cells with subdiffraction resolution and to determine effects of CEP290 deficiency in 3 mutant models. Radially, CEP290 localizes in close proximity to the microtubule doublets in the region between the doublets and the ciliary membrane. Longitudinally, it is distributed throughout the length of the CC whereas it is confined to the very base of primary cilia in human retinal pigment epithelium-1 cells. We found Y-shaped links, ciliary substructures between microtubules and membrane, throughout the length of the CC. Severe CEP290 deficiencies in mouse models did not prevent assembly of cilia or cause obvious mislocalization of ciliary components in early stages of degeneration. There were fewer cilia and no normal outer segments in the mutants, but the Y-shaped links were clearly present. These results point to photoreceptor-specific functions of CEP290 essential for CC maturation and stability following the earliest stages of ciliogenesis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.