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 |
Abstract
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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