caa a22 4500 606177051 CHVBK 20210128100750.0 cr unu---uuuuu 210128e20151201xx s 000 0 eng 10.1007/s00018-015-2017-9 doi (NATIONALLICENCE)springer-10.1007/s00018-015-2017-9 Mechanism, factors, and physiological role of nonsense-mediated mRNA decay [Elektronische Daten] [Tobias Fatscher, Volker Boehm, Niels Gehring] Nonsense-mediated mRNA decay (NMD) is a translation-dependent, multistep process that degrades irregular or faulty messenger RNAs (mRNAs). NMD mainly targets mRNAs with a truncated open reading frame (ORF) due to premature termination codons (PTCs). In addition, NMD also regulates the expression of different types of endogenous mRNA substrates. A multitude of factors are involved in the tight regulation of the NMD mechanism. In this review, we focus on the molecular mechanism of mammalian NMD. Based on the published data, we discuss the involvement of translation termination in NMD initiation. Furthermore, we provide a detailed overview of the core NMD machinery, as well as several peripheral NMD factors, and discuss their function. Finally, we present an overview of diseases associated with NMD factor mutations and summarize the current state of treatment for genetic disorders caused by nonsense mutations. Springer Basel, 2015 NMD nationallicence Quality control nationallicence UPF1 nationallicence Exon junction complex nationallicence Genetic disease nationallicence Fatscher Tobias Institute for Genetics, University of Cologne, Cologne, Germany aut Boehm Volker Institute for Genetics, University of Cologne, Cologne, Germany aut Gehring Niels Institute for Genetics, University of Cologne, Cologne, Germany aut Cellular and Molecular Life Sciences Springer International Publishing 72/23(2015-12-01), 4523-4544 1420-682X 72:23<4523 2015 72 18 https://doi.org/10.1007/s00018-015-2017-9 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 review-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s00018-015-2017-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Fatscher Tobias Institute for Genetics, University of Cologne, Cologne, Germany aut NATIONALLICENCE 700 1- Boehm Volker Institute for Genetics, University of Cologne, Cologne, Germany aut NATIONALLICENCE 700 1- Gehring Niels Institute for Genetics, University of Cologne, Cologne, Germany aut NATIONALLICENCE 773 0- Cellular and Molecular Life Sciences Springer International Publishing 72/23(2015-12-01), 4523-4544 1420-682X 72:23<4523 2015 72 18