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Antisense, but not sense, repeat expanded RNAs activate PKR/eIF2α-dependent ISR in C9ORF72 FTD/ALS

GGGGCC (G4C2) hexanucleotide repeat expansion in the C9ORF72 gene is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The repeat is bidirectionally transcribed and confers gain of toxicity. However, the underlying toxic species is debated, and i...

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Principais autores: Janani Parameswaran, Nancy Zhang, Elke Braems, Kedamawit Tilahun, Devesh C Pant, Keena Yin, Seneshaw Asress, Kara Heeren, Anwesha Banerjee, Emma Davis, Samantha L Schwartz, Graeme L Conn, Gary J Bassell, Ludo Van Den Bosch, Jie Jiang
Formato: Artigo
Idioma:Inglês
Publicado em: eLife Sciences Publications Ltd 2023-04-01
coleção:eLife
Assuntos:
C9ORF72
PKR
antisense RNA
FTD/ALS
integrated stress response
Acesso em linha:https://elifesciences.org/articles/85902
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