C9orf72 expansion disrupts ATM-mediated chromosomal break repair
Version 2 2024-03-12, 17:46
Version 1 2023-10-19, 15:13
journal contribution
posted on 2024-03-12, 17:46 authored by Callum Walker, Saul Herranz-Martin, Mateusz Jurga, Ioannis Tsagakis, Tommaso Iannitti, Jayanth Chandran, Ian Coldicott, Kurt J. De Vos, Mohamed K. Hassan, Adrian Higginbottom, Pamela J. Shaw, Guillaume M. Hautbergue, Evangelia Karyka, Mimoun Azzouz, Sherif F. El-Khamisy, Chunyan Liao, Katherine Lewis, Waheba Elsayed, Vera Lukashchuk, Shih-Chieh Chieh Chiang, Swagat RaySwagat Ray, Padraig J. Mulcahy<p>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.</p>
History
School affiliated with
- Department of Life Sciences (Research Outputs)
