Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences

In-frame premature termination codons (PTCs) account for ∼11% of all disease-associated mutations. PTC suppression therapy utilizes small molecules that suppress translation termination at a PTC to restore synthesis of a full-length protein. PTC suppression is mediated by the base pairing of a near-...

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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: Xue, Xiaojiao, Mutyam, Venkateshwar, Thakerar, Amita, Mobley, James, Bridges, Robert J., Rowe, Steven M., Keeling, Kim M., Bedwell, David M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2017
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886253/
https://ncbi.nlm.nih.gov/pubmed/28575328
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx196
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