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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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Detaylı Bibliyografya
Yayımlandı:Hum Mol Genet
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2017
Konular:
Online Erişim: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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