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Article

RNA-mediated toxicity in C9orf72 ALS and FTD

20 Aug 2020

Abstract excerpt

A GGGGCC hexanucleotide repeat expansion in the first intron of C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Compelling evidence suggests that gain of toxicity from the bidirectionally transcribed repeat expanded RNAs plays a central role in disease pathogenesis. Two potential mechanisms have been proposed including RNA-mediated toxicity and/or the...

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PMID: 32829028
DOI: 10.1016/j.nbd.2020.105055

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