Ontology highlight
ABSTRACT:
SUBMITTER: Walker C
PROVIDER: S-EPMC5578434 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Walker Callum C Herranz-Martin Saul S Karyka Evangelia E Liao Chunyan C Lewis Katherine K Elsayed Waheba W Lukashchuk Vera V Chiang Shih-Chieh SC Ray Swagat S Mulcahy Padraig J PJ Jurga Mateusz M Tsagakis Ioannis I Iannitti Tommaso T Chandran Jayanth J Coldicott Ian I De Vos Kurt J KJ Hassan Mohamed K MK Higginbottom Adrian A Shaw Pamela J PJ Hautbergue Guillaume M GM Azzouz Mimoun M El-Khamisy Sherif F SF
Nature neuroscience 20170717 9
Hexanucleotide repeat expansions represent the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, though the mechanisms by which such expansions cause neurodegeneration are poorly understood. We report elevated levels of DNA-RNA hybrids (R-loops) and double strand breaks in rat neurons, human cells and C9orf72 ALS patient spinal cord tissues. Accumulation of endogenous DNA damage is concomitant with defective ATM-mediated DNA repair signaling and accumu ...[more]