| http://purl.uniprot.org/citations/26487268 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26487268 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26487268 | http://www.w3.org/2000/01/rdf-schema#comment | "Ciliopathies are a large group of clinically and genetically heterogeneous disorders caused by defects in primary cilia. Here we identified mutations in TRAF3IP1 (TNF Receptor-Associated Factor Interacting Protein 1) in eight patients from five families with nephronophthisis (NPH) and retinal degeneration, two of the most common manifestations of ciliopathies. TRAF3IP1 encodes IFT54, a subunit of the IFT-B complex required for ciliogenesis. The identified mutations result in mild ciliary defects in patients but also reveal an unexpected role of IFT54 as a negative regulator of microtubule stability via MAP4 (microtubule-associated protein 4). Microtubule defects are associated with altered epithelialization/polarity in renal cells and with pronephric cysts and microphthalmia in zebrafish embryos. Our findings highlight the regulation of cytoplasmic microtubule dynamics as a role of the IFT54 protein beyond the cilium, contributing to the development of NPH-related ciliopathies."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.org/dc/terms/identifier | "doi:10.1038/ncomms9666"xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.org/dc/terms/identifier | "doi:10.1038/ncomms9666"xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Bouwmeester T."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Bouwmeester T."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Lorentzen E."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Lorentzen E."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Yang F."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Yang F."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Sailer A.W."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Sailer A.W."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Weber K."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Weber K."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Oakeley E.J."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Oakeley E.J."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Salomon R."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Salomon R."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Antignac C."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Antignac C."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Hildebrandt F."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Hildebrandt F."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Benmerah A."xsd:string |
| http://purl.uniprot.org/citations/26487268 | http://purl.uniprot.org/core/author | "Benmerah A."xsd:string |