C9orf72 expansion disrupts ATM-mediated chromosomal break repair

Walker, Callum, Herranz-Martin, Saul, Karyka, Evangelia , Liao, Chunyan, Lewis, Katherine, Elsayed, Waheba, Lukashchuk, Vera, Chiang, Shih-Chieh Chieh, Ray, Swagat, Mulcahy, Padraig J., Jurga, Mateusz, Tsagakis, Ioannis, Iannitti, Tommaso, Chandran, Jayanth, Coldicott, Ian, De Vos, Kurt J., Hassan, Mohamed K., Higginbottom, Adrian, Shaw, Pamela J., Hautbergue, Guillaume M., Azzouz, Mimoun and El-Khamisy, Sherif F. (2017) C9orf72 expansion disrupts ATM-mediated chromosomal break repair. Nature Neuroscience, 20 (9). pp. 1225-1235. ISSN 1097-6256

Full content URL: https://doi.org/10.1038/nn.4604

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Item Type:Article
Item Status:Live Archive


An expanded repetition of a DNA sequence within the C9orf72 gene is the most common genetic cause for motor neuron disease and frontotemporal dementia. In this study, the authors show that this expansion causes increased genomic breaks and reduces the cell's ability to repair the breaks, ultimately leading to neuronal cell death.

Keywords:ATM, C90rf72
Subjects:C Biological Sciences > C130 Cell Biology
Divisions:College of Science > School of Life Sciences
ID Code:37142
Deposited On:27 Sep 2019 10:18

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