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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,...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Mol Genet
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2017
Pynciau:
Mynediad Ar-lein: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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