Article
CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
Nature genetics - 1 Jan 2011
Kalay Ersan, Yigit Gökhan, Aslan Yakup, Brown Karen E, Pohl Esther, Bicknell Louise S, Kayserili Hülya, Li Yun, Tüysüz Beyhan, Nürnberg Gudrun, Kiess Wieland, Koegl Manfred, Baessmann Ingelore, Buruk Kurtulus, Toraman Bayram, Kayipmaz Saadettin, Kul Sibel, Ikbal Mevlit, Turner Daniel J, Taylor Martin S, Aerts Jan, Scott Carol, Milstein Karen, Dollfus Helene, Wieczorek Dagmar, Brunner Han G, Hurles Matthew, Jackson Andrew P, Rauch Anita, Nürnberg Peter, Karagüzel Ahmet, Wollnik Bernd
Abstract excerpt
Functional impairment of DNA damage response pathways leads to increased genomic instability. Here we describe the centrosomal protein CEP152 as a new regulator of genomic integrity and cellular response to DNA damage. Using homozygosity mapping and exome sequencing, we identified CEP152 mutation...
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