Ontology highlight
ABSTRACT:
SUBMITTER: Zhang K
PROVIDER: S-EPMC4800742 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Zhang Ke K Donnelly Christopher J CJ Haeusler Aaron R AR Grima Jonathan C JC Machamer James B JB Steinwald Peter P Daley Elizabeth L EL Miller Sean J SJ Cunningham Kathleen M KM Vidensky Svetlana S Gupta Saksham S Thomas Michael A MA Hong Ingie I Chiu Shu-Ling SL Huganir Richard L RL Ostrow Lyle W LW Matunis Michael J MJ Wang Jiou J Sattler Rita R Lloyd Thomas E TE Rothstein Jeffrey D JD
Nature 20150826 7567
The hexanucleotide repeat expansion (HRE) GGGGCC (G4C2) in C9orf72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Recent studies support an HRE RNA gain-of-function mechanism of neurotoxicity, and we previously identified protein interactors for the G4C2 RNA including RanGAP1. A candidate-based genetic screen in Drosophila expressing 30 G4C2 repeats identified RanGAP (Drosophila orthologue of human RanGAP1), a key regulator of nucleocytoplasmic ...[more]