Mechanism of escape from nonsense-mediated mRNA decay of human β-globin transcripts with nonsense mutations in the first exon

The degradation of nonsense-mutated β-globin mRNA by nonsense-mediated mRNA decay (NMD) limits the synthesis of C-terminally truncated dominant negative β-globin chains and thus protects the majority of heterozygotes from symptomatic β-thalassemia. β-globin mRNAs with nonsense mutations in the first...

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Main Authors: Neu-Yilik, Gabriele, Amthor, Beate, Gehring, Niels H., Bahri, Sharif, Paidassi, Helena, Hentze, Matthias W., Kulozik, Andreas E.
Format: Artigo
Language:Inglês
Published: Cold Spring Harbor Laboratory Press 2011
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3078734/
https://ncbi.nlm.nih.gov/pubmed/21389146
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1261/rna.2401811
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