| http://purl.uniprot.org/citations/16339905 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16339905 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16339905 | http://www.w3.org/2000/01/rdf-schema#comment | "RPGR-interacting protein 1 (RPGRIP1) is a key component of cone and rod photoreceptor cells, where it interacts with RPGR (retinitis pigmentosa GTPase regulator). Mutations in RPGRIP1 lead to autosomal recessive congenital blindness [Leber congenital amaurosis (LCA)]. Most LCA-associated missense mutations in RPGRIP1 are located in a segment that encodes two C2 domains. Based on the C2 domain of novel protein kinase C epsilon (PKC epsilon), we built a 3D-homology model for the C-terminal C2 domain of RPGRIP1. This model revealed a potential Ca2+-binding site that was predicted to be disrupted by a missense mutation in RPGRIP1, which was previously identified in an LCA patient. Through yeast two-hybrid screening of a retinal cDNA library, we found this C2 domain to specifically bind to nephrocystin-4, encoded by NPHP4. Mutations in NPHP4 are associated with nephronophthisis and a combination of nephronophthisis and retinitis pigmentosa called Senior-Løken syndrome (SLSN). We show that RPGRIP1 and nephrocystin-4 interact strongly in vitro and in vivo, and that they colocalize in the retina, matching the panretinal localization pattern of specific RPGRIP1 isoforms. Their interaction is disrupted by either mutations in RPGRIP1, found in patients with LCA, or by mutations in NPHP4, found in patients with nephronophthisis or SLSN. Thus, we provide evidence for the involvement of this disrupted interaction in the retinal dystrophy of both SLSN and LCA patients."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.0505774102"xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.0505774102"xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/author | "Lu X."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/author | "Lu X."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/author | "Cremers F.P."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/author | "Cremers F.P."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/author | "Krieger E."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/author | "Krieger E."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/author | "Roepman R."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/author | "Roepman R."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/author | "Letteboer S.J."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/author | "Letteboer S.J."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/author | "van Beersum S.E."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/author | "van Beersum S.E."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/author | "Arts H.H."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/author | "Arts H.H."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/author | "Ferreira P.A."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/author | "Ferreira P.A."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/name | "Proc. Natl. Acad. Sci. U.S.A."xsd:string |
| http://purl.uniprot.org/citations/16339905 | http://purl.uniprot.org/core/name | "Proc. Natl. Acad. Sci. U.S.A."xsd:string |