title: C9orf72-associated FTD/ALS: when less is more.
abstract: Hexanucleotide repeat expansions in C9ORF72 cause neurodegeneration in FTD and ALS by unknown mechanisms. A new report, by Donnelly et al. (2013), finds that these repeats trigger a pathogenic gain-of-function cascade that can be corrected by suppressing expression of the repeat transcript, paving the way for therapeutic strategies aimed at eliminating the toxic RNA.
authors.affiliation: Department of Neurology, University of Michigan Medical Center, Ann Arbor, MI 48109, USA.
authors.forename: Peter K
authors.initials: PK
authors.lastname: Todd
authors.forename: Henry L
authors.initials: HL
authors.lastname: Paulson
mesh_terms: D006801:Humans; D000690:Amyotrophic Lateral Sclerosis / Q000378:metabolism; D000073885:C9orf72 Protein; D057180:Frontotemporal Dementia / Q000378:metabolism; D016376:Oligonucleotides, Antisense / Q000627:therapeutic use; D011506:Proteins / Q000378:metabolism; D012313:RNA / Q000633:toxicity
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D016376:Oligonucleotides, Antisense; D011506:Proteins; D012313:RNA