ArticleCell reports2018
A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration.
Article in Cell reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 40 citations in OpenAlex.
- Profiling truncated variants of TCTN1 unveils the essential role of its integrity for ciliogenesis.iScience · 2025Article
- Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.Biomolecules · 2025Review
- Recombinant adeno-associated virus as a delivery platform for ocular gene therapy: A comprehensive review.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Review
- Rodent Models of Retinal Degeneration: From Purified Cells in Culture to Living Animals.Cold Spring Harbor perspectives in medicine · 2024Review
- Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide inAmerican journal of ophthalmology case reports · 2023Article
- Dysregulated Arginine Metabolism Is Linked to Retinal Degeneration in Cep250 Knockout Mice.Investigative ophthalmology & visual science · 2023Article
- Article
- Patient stem cell-derived in vitro disease models for developing novel therapies of retinal ciliopathies.Current topics in developmental biology · 2023Review
- Modeling inducible neuropathologies of the retina with differential phenotypes in organoids.Frontiers in cellular neuroscience · 2023Article
- Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCAVeterinary ophthalmology · 2023Article
- ENKD1 promotes CP110 removal through competing with CEP97 to initiate ciliogenesis.EMBO reports · 2022Article
- Gene Therapy for Rhodopsin-associated Autosomal Dominant Retinitis Pigmentosa.International ophthalmology clinics · 2021Article
- Primary cilia biogenesis and associated retinal ciliopathies.Seminars in cell & developmental biology · 2021Review
- Mouse Retinal Organoid Growth and Maintenance in Longer-Term Culture.Frontiers in cell and developmental biology · 2021Article
- Endoplasmic reticulum stress: New insights into the pathogenesis and treatment of retinal degenerative diseases.Progress in retinal and eye research · 2020Review
- Pluripotent stem cell-derived retinal organoids for disease modeling and development of therapies.Stem cells (Dayton, Ohio) · 2020Review
- Review
- Healthcare recommendations for Joubert syndrome.American journal of medical genetics. Part A · 2020Review
- AAV Targeting of Glial Cell Types in the Central and Peripheral Nervous System and Relevance to Human Gene Therapy.Frontiers in molecular neuroscience · 2020Review
- Role of Translational Attenuation in Inherited Retinal Degeneration.Investigative ophthalmology & visual science · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in CEP290 cause ciliogenesis defects, leading to diverse clinical phenotypes, including Leber congenital amaurosis (LCA). Gene therapy for CEP290-associated diseases is hindered by the 7.4 kb CEP290 coding sequence, which is difficult to deliver in vivo. The multi-domain structure of the CEP290 protein suggests that a specific CEP290 domain may complement disease phenotypes. Thus, we constructed AAV vectors with overlapping CEP290 regions and evaluated their impact on photoreceptor degeneration in Cep290
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What OpenQuestion holds
Registered trials
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.