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Article

Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Oct 2016

Ronquillo Cecinio C, Hanke-Gogokhia Christin, Revelo Monica P, Frederick Jeanne M, Jiang Li, Baehr Wolfgang

Abstract excerpt

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-/- mice...

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Share to Calmodulin-Binding Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Guanylate Cyclase

Share to Kidney Diseases, Cystic

Share to Leber Congenital Amaurosis

Share to Optic Atrophies, Hereditary

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Source

Open in PubMed Open full text

Identifiers

PMID: 27328943
DOI: 10.1096/fj.201600511R
PMCID: PMC5789158

Genes

IQCB1
CETN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.PMID 27328943Read ↗

In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells.Semantic proximity Read ↗

Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.Semantic proximity Read ↗

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.Semantic proximity Read ↗

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.Semantic proximity Read ↗

Differential requirement of NPHP1 for compartmentalized protein localization during photoreceptor outer segment development and maintenanceSemantic proximity Read ↗

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.Semantic proximity Read ↗

Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons.Semantic proximity Read ↗

Nephronophthisis-Associated CiliopathiesSemantic proximity Read ↗

Loss of INPP5E affects photoreceptor outer segment membrane biogenesis in iPSC-derived human retinal organoidsSemantic proximity Read ↗

Nephrocystin Specifically Localizes to the Transition Zone of Renal and Respiratory Cilia and Photoreceptor Connecting CiliaSemantic proximity Read ↗

Deletion of INPP5E in the murine retina impairs axoneme formation and prevents photoreceptor disc morphogenesisSemantic proximity Read ↗

Gene Therapy Reforms Photoreceptor Structure and Restores Vision in <i>NPHP5</i> -associated Leber Congenital AmaurosisSemantic proximity Read ↗

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