Nonsense-mediated decay approaches the clinic

By Jill A Holbrook, G. Neu-Yilik, Matthias W. Hentze, A. Kulozik. Nature Genetics, 2004

634 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/66ad7bca2e7f769a612f81f214899c28bc5ca163

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In Genetics

1. M. Kozak

In Molecular Biology

1. O. Isken
2. L. Maquat
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4. Melissa J. Moore
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Citations in the corpus

• Binding of a novel SMG-1-Upf1-eRF1-eRF3 complex (SURF) to the exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay. (2006, background): “Aberrant proteins encoded by PTC-mRNA can have gain-of-function and dominantnegative effects that can result in genetic diseases (Frischmeyer and Dietz 1999; Holbrook et al. 2004).”
• Regulation of translation via mRNA structure in prokaryotes and eukaryotes. (2005, background): “This is not a common escape mechanism because mRNAs that carry a premature terminator codon– the result of a point mutation or failure to remove an intron–usually get degraded via a translation-linked mechanism called nonsense-mediate decay (Baker and Parker, 2004; Holbrook et al., 2004).”
• Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function. (2007, background): “For a case in point, PTCs within the last exon of the human -globin gene result in a dominantly inherited form of the hemolytic anemia thalassemia, thereby illustrating the importance of down-regulating mRNAs that encode truncated proteins (Holbrook et al. 2004).”
• Pre-mRNA processing reaches back to transcription and ahead to translation. (2009, background): “Indeed, such mutant alleles account for up to 30% of all human hereditary disorders (Holbrook et al., 2004).”
• Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene (2008, background): “…to result either in a truncated protein, with the consequent loss of functional domains including the NLSs located in the C-terminal segment, or in loss of the translated protein because of nonsense-mediated mRNA decay (NMD) [Holbrook et al., 2004; Khajavi et al., 2006; Kuzmiak and Maquat, 2006].”