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Article

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

Cell death & disease - 19 Jul 2012

Patil H, Tserentsoodol N, Saha A, Hao Y, Webb M, Ferreira P A

Abstract excerpt

The retinitis pigmentosa GTPase regulator (RPGR) and nephrocystin-4 (NPHP4) comprise two key partners of the assembly complex of the RPGR-interacting protein 1 (RPGRIP1). Mutations in RPGR and NPHP4 are linked to severe multisystemic diseases with strong retinal involvement of photoreceptor neurons, whereas those in RPGRIP1 cause the fulminant photoreceptor dystrophy, Leber congenital amaurosis (LCA). Further,...

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Source

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Identifiers

PMID: 22825473
DOI: 10.1038/cddis.2012.96
PMCID: PMC3406595

Genes

RPGRIP1
NPHP4
RPGR
SDCCAG8

Provenance

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Related research

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Research trail→

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Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons.PMID 22825473Read ↗

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.Semantic proximity Read ↗

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RPGR: Role in the photoreceptor cilium, human retinal disease, and gene therapySemantic proximity Read ↗

RPGR: Its role in photoreceptor physiology, human disease, and future therapiesSemantic proximity Read ↗

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaSemantic proximity Read ↗

RPGR regulates motile cilia by interfering with actin dynamicsSemantic proximity Read ↗

Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia.Semantic proximity Read ↗

RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.Semantic proximity Read ↗

Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition.Semantic proximity Read ↗

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