Ontology highlight
ABSTRACT:
SUBMITTER: Mizielinska S
PROVIDER: S-EPMC4944841 | biostudies-literature | 2014 Sep
REPOSITORIES: biostudies-literature
Science (New York, N.Y.) 20140807 6201
An expanded GGGGCC repeat in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. A fundamental question is whether toxicity is driven by the repeat RNA itself and/or by dipeptide repeat proteins generated by repeat-associated, non-ATG translation. To address this question, we developed in vitro and in vivo models to dissect repeat RNA and dipeptide repeat protein toxicity. Expression of pure repeats, but not stop codon-interrupted "RNA-only" rep ...[more]