CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meioti...
CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination
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Author / Creator
Marjanović, Marko , Sánchez-Huertas, Carlos , Terré, Berta , Gómez, Rocío , Scheel, Jan Frederik , Pacheco, Sarai , Knobel, Philip A. , Martínez-Marchal, Ana , Aivio, Suvi , Palenzuela, Lluís , Wolfrum, Uwe , McKinnon, Peter J. , Suja, José A. , Roig, Ignasi , Costanzo, Vincenzo , Lüders, Jens and Stracker, Travis H.
Publisher
London: Nature Publishing Group UK
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English
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Publisher
London: Nature Publishing Group UK
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Contents
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...
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Full title
CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4499871
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4499871
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E-ISSN
2041-1723
DOI
10.1038/ncomms8676