| http://purl.uniprot.org/citations/22543976 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22543976 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22543976 | http://www.w3.org/2000/01/rdf-schema#comment | "Oculocerebral renal syndrome of Lowe (OCRL or Lowe syndrome), a severe X-linked congenital disorder characterized by congenital cataracts and glaucoma, mental retardation and kidney dysfunction, is caused by mutations in the OCRL gene. OCRL is a phosphoinositide 5-phosphatase that interacts with small GTPases and is involved in intracellular trafficking. Despite extensive studies, it is unclear how OCRL mutations result in a myriad of phenotypes found in Lowe syndrome. Our results show that OCRL localizes to the primary cilium of retinal pigment epithelial cells, fibroblasts and kidney tubular cells. Lowe syndrome-associated mutations in OCRL result in shortened cilia and this phenotype can be rescued by the introduction of wild-type OCRL; in vivo, knockdown of ocrl in zebrafish embryos results in defective cilia formation in Kupffer vesicles and cilia-dependent phenotypes. Cumulatively, our data provide evidence for a role of OCRL in cilia maintenance and suggest the involvement of ciliary dysfunction in the manifestation of Lowe syndrome."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/dds163"xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/dds163"xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Sun Y."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Sun Y."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Sun L."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Sun L."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Wells C.D."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Wells C.D."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "West C.C."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "West C.C."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Khanna H."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Khanna H."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Anderson R.M."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Anderson R.M."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Luo N."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Luo N."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Murga-Zamalloa C.A."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Murga-Zamalloa C.A."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Travers J.B."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Travers J.B."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Weinreb R.N."xsd:string |
| http://purl.uniprot.org/citations/22543976 | http://purl.uniprot.org/core/author | "Weinreb R.N."xsd:string |