http://purl.uniprot.org/citations/26158450 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/26158450 | http://www.w3.org/2000/01/rdf-schema#comment | "CEP63 is a centrosomal protein that facilitates centriole duplication and is regulated by the DNA damage response. Mutations in CEP63 cause Seckel syndrome, a human disease characterized by microcephaly and dwarfism. Here we demonstrate that Cep63-deficient mice recapitulate Seckel syndrome pathology. The attrition of neural progenitor cells involves p53-dependent cell death, and brain size is rescued by the deletion of p53. Cell death is not the result of an aberrant DNA damage response but is triggered by centrosome-based mitotic errors. In addition, Cep63 loss severely impairs meiotic recombination, leading to profound male infertility. Cep63-deficient spermatocytes display numerical and structural centrosome aberrations, chromosome entanglements and defective telomere clustering, suggesting that a reduction in centrosome-mediated chromosome movements underlies recombination failure. Our results provide novel insight into the molecular pathology of microcephaly and establish a role for the centrosome in meiotic recombination."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.org/dc/terms/identifier | "doi:10.1038/ncomms8676"xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/author | "Pacheco S."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/author | "Stracker T.H."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/author | "Gomez R."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/author | "McKinnon P.J."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/author | "Wolfrum U."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/author | "Roig I."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/author | "Suja J.A."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/author | "Costanzo V."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/author | "Aivio S."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/author | "Knobel P.A."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/author | "Palenzuela L."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/author | "Luders J."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/author | "Scheel J.F."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/author | "Marjanovic M."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/author | "Sanchez-Huertas C."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/author | "Martinez-Marchal A."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/author | "Terre B."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/name | "Nat Commun"xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/pages | "7676"xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/title | "CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination."xsd:string |
http://purl.uniprot.org/citations/26158450 | http://purl.uniprot.org/core/volume | "6"xsd:string |