ArticleFASEB journal : official publication of the Federation of American Societies for Experimental Biology2016
Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.
Article in FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 43 citations in OpenAlex.
- Gene therapy rescues cone function inMolecular therapy. Advances · 2026Article
- Gene therapy rescues cone function in an all-cone retina mouse model with the most common cone opsin C203R missense mutation.PloS one · 2026Article
- In vivo efficacy of NRL knockdown with cell-penetrating siRNA in retinal degeneration.Scientific reports · 2025Article
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- A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.Biomolecules · 2025Review
- Dysregulated Arginine Metabolism Is Linked to Retinal Degeneration in Cep250 Knockout Mice.Investigative ophthalmology & visual science · 2023Article
- Inactivation ofeLife · 2023Article
- Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies.Cold Spring Harbor perspectives in medicine · 2023Review
- In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells.Stem cell reports · 2022Article
- Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia.BMC pediatrics · 2022Article
- Affinity Proteomics Identifies Interaction Partners and Defines Novel Insights into the Function of the Adhesion GPCR VLGR1/ADGRV1.Molecules (Basel, Switzerland) · 2022Article
- Cone pathway dysfunction in Jalili syndrome due to a novel familial variant ofOphthalmic genetics · 2022Article
- Super-resolution microscopy reveals photoreceptor-specific subciliary location and function of ciliopathy-associated protein CEP290.JCI insight · 2021Article
- Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone.Molecular biology of the cell · 2021Article
- On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies.Frontiers in cell and developmental biology · 2021Review
- Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis.Frontiers in cell and developmental biology · 2021Review
- Targeting the photoreceptor cilium for the treatment of retinal diseases.Acta pharmacologica Sinica · 2020Review
- Review
- Morphological and Molecular Defects in Human Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis.Stem cell reports · 2019Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 3 countries.
Funding
Abstract
Null mutations in the human IQCB1/NPHP5 (nephrocystin-5) gene that encodes NPHP5 are the most frequent cause of Senior-Løken syndrome, a ciliopathy that is characterized by Leber congenital amaurosis and nephronophthisis. We generated germline Nphp5-knockout mice by placing a β-Geo gene trap in intron 4, thereby truncating NPHP5 at Leu87 and removing all known functional domains. At eye opening, Nphp5
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