Ontology highlight
ABSTRACT:
SUBMITTER: Lee YB
PROVIDER: S-EPMC3898469 | biostudies-literature | 2013 Dec
REPOSITORIES: biostudies-literature
Lee Youn-Bok YB Chen Han-Jou HJ Peres João N JN Gomez-Deza Jorge J Attig Jan J Stalekar Maja M Troakes Claire C Nishimura Agnes L AL Scotter Emma L EL Vance Caroline C Adachi Yoshitsugu Y Sardone Valentina V Miller Jack W JW Smith Bradley N BN Gallo Jean-Marc JM Ule Jernej J Hirth Frank F Rogelj Boris B Houart Corinne C Shaw Christopher E CE
Cell reports 20131127 5
The GGGGCC (G4C2) intronic repeat expansion within C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Intranuclear neuronal RNA foci have been observed in ALS and FTD tissues, suggesting that G4C2 RNA may be toxic. Here, we demonstrate that the expression of 38× and 72× G4C2 repeats form intranuclear RNA foci that initiate apoptotic cell death in neuronal cell lines and zebrafish embryos. The foci colocalize with a subset of RNA bin ...[more]