| http://purl.uniprot.org/citations/17558407 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17558407 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17558407 | http://www.w3.org/2000/01/rdf-schema#comment | "Protein-protein interaction analyses have uncovered a ciliary and basal body protein network that, when disrupted, can result in nephronophthisis (NPHP), Leber congenital amaurosis, Senior-Løken syndrome (SLSN) or Joubert syndrome (JBTS). However, details of the molecular mechanisms underlying these disorders remain poorly understood. RPGRIP1-like protein (RPGRIP1L) is a homolog of RPGRIP1 (RPGR-interacting protein 1), a ciliary protein defective in Leber congenital amaurosis. We show that RPGRIP1L interacts with nephrocystin-4 and that mutations in the gene encoding nephrocystin-4 (NPHP4) that are known to cause SLSN disrupt this interaction. RPGRIP1L is ubiquitously expressed, and its protein product localizes to basal bodies. Therefore, we analyzed RPGRIP1L as a candidate gene for JBTS and identified loss-of-function mutations in three families with typical JBTS, including the characteristic mid-hindbrain malformation. This work identifies RPGRIP1L as a gene responsible for JBTS and establishes a central role for cilia and basal bodies in the pathophysiology of this disorder."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng2069"xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng2069"xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Brunner H.G."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Brunner H.G."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Cremers F.P.M."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Cremers F.P.M."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Knoers N.V.A.M."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Knoers N.V.A.M."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Kroes H.Y."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Kroes H.Y."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Wolfrum U."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Wolfrum U."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Maerker T."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Maerker T."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Roepman R."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Roepman R."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Doherty D."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Doherty D."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Glass I.A."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Glass I.A."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Ozyurek H."xsd:string |
| http://purl.uniprot.org/citations/17558407 | http://purl.uniprot.org/core/author | "Ozyurek H."xsd:string |