Ontology highlight
ABSTRACT:
SUBMITTER: Walker C
PROVIDER: S-EPMC5578434 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
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]