[Specific inhibition of nonsense-mediated mRNA decay has the potential to rescue the phenotype of muscular dystrophy].

Abstract excerpt

Nonsense-mediated mRNA decay (NMD) is an mRNA quality-control mechanism that degrades aberrant mRNAs containing premature translation termination codons (PTCs). The essential proteins for NMD include SMG-1, a protein kinase, and Upf, a substrate of SMG-1 with RNA helicase activity. In this study, we evaluated the effect of NMD inhibition on the phenotype of Ullrich disease, an autosomal recessive congenital...

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