Article
Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences.
Human molecular genetics - 15 Aug 2017
Xue Xiaojiao, Mutyam Venkateshwar, Thakerar Amita, Mobley James, Bridges Robert J, Rowe Steven M, Keeling Kim M, Bedwell David M
Abstract excerpt
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-cognate aminoacyl-tRNA with a PTC and subsequently, the amino acid becomes incorporated into the nascent polypeptide...
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