C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

An intronic GGGGCC (G4C2) hexanucleotide repeat expansion inC9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Repeat-associated non-AUG (RAN) translation of G4C2 RNA can result in five different dipeptide repeat proteins (DPR: poly GA,...

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Pubblicato in:Hum Mol Genet
Autori principali: Lee, Youn-Bok, Baskaran, Pranetha, Gomez-Deza, Jorge, Chen, Han-Jou, Nishimura, Agnes L, Smith, Bradley N, Troakes, Claire, Adachi, Yoshitsugu, Stepto, Alan, Petrucelli, Leonard, Gallo, Jean-Marc, Hirth, Frank, Rogelj, Boris, Guthrie, Sarah, Shaw, Christopher E
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886201/
https://ncbi.nlm.nih.gov/pubmed/28973350
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx350
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