| http://purl.uniprot.org/citations/20230748 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20230748 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20230748 | http://www.w3.org/2000/01/rdf-schema#comment | "Centrosomes and their component centrioles represent the principal microtubule organizing centers of animal cells. Here, we show that the gene underlying orofaciodigital syndrome 1, Ofd1, is a component of the distal centriole that controls centriole length. In the absence of Ofd1, distal regions of centrioles, but not procentrioles, elongate abnormally. These long centrioles are structurally similar to normal centrioles but contain destabilized microtubules with abnormal posttranslational modifications. Ofd1 is also important for centriole distal appendage formation and centriolar recruitment of the intraflagellar transport protein Ift88. To model OFD1 syndrome in embryonic stem cells, we replaced the Ofd1 gene with missense alleles from human OFD1 patients. Distinct disease-associated mutations cause different degrees of excessive or decreased centriole elongation, all of which are associated with diminished ciliogenesis. Our results indicate that Ofd1 acts at the distal centriole to build distal appendages, recruit Ift88, and stabilize centriolar microtubules at a defined length."xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.devcel.2009.12.022"xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.devcel.2009.12.022"xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/author | "Reiter J.F."xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/author | "Reiter J.F."xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/author | "Garcia-Verdugo J.M."xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/author | "Garcia-Verdugo J.M."xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/author | "Romaguera-Ros M."xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/author | "Romaguera-Ros M."xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/author | "Singla V."xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/author | "Singla V."xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/name | "Dev. Cell"xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/name | "Dev. Cell"xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/pages | "410-424"xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/pages | "410-424"xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/title | "Ofd1, a human disease gene, regulates the length and distal structure of centrioles."xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/title | "Ofd1, a human disease gene, regulates the length and distal structure of centrioles."xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/volume | "18"xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://purl.uniprot.org/core/volume | "18"xsd:string |
| http://purl.uniprot.org/citations/20230748 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/20230748 |
| http://purl.uniprot.org/citations/20230748 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/20230748 |