Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/82008
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dc.contributor.authorNguyen, L.en
dc.contributor.authorWilkinson, M.en
dc.contributor.authorGecz, J.en
dc.date.issued2014en
dc.identifier.citationNeuroscience and Biobehavioral Reviews, 2014; 46(Part 2):175-186en
dc.identifier.issn0149-7634en
dc.identifier.issn1873-7528en
dc.identifier.urihttp://hdl.handle.net/2440/82008-
dc.description.abstractNonsense-mediated mRNA decay (NMD) is a regulatory pathway that functions to degrade transcripts containing premature termination codons (PTCs) and to maintain normal transcriptome homeostasis. Nonsense and frameshift mutations that generate PTCs cause approximately one-third of all known human genetic diseases and thus NMD has a potentially important role in human disease. In genetic disorders in which the affected genes carry PTC-generating mutations, NMD acts as a double-edge sword. While it can benefit the patient by degrading PTC-containing mRNAs that encode detrimental, dominant-negative truncated proteins, it can also make the disease worse when a PTC-containing mRNA is degraded that encodes a mutant but still functional protein. There is evidence that the magnitude of NMD varies between individuals, which, in turn, has been shown to correlate with both clinical presentations and the patients' responses to drugs that promote read-through of PTCs. In this review, we examine the evidence supporting the existence of inter-individual variability in NMD efficiency and discuss the genetic factors that underlie this variability. We propose that inter-individual variability in NMD efficiency is a common phenomenon in human populations and that an individual's NMD efficiency should be taken into consideration when testing, developing, and making therapeutic decisions for diseases caused by genes harboring PTCs.en
dc.description.statementofresponsibilityLam Son Nguyen, Miles F. Wilkinson, Jozef Geczen
dc.language.isoenen
dc.publisherPergamon-Elsevier Science Ltden
dc.rights© 2013 Elsevier Ltd. All rights reserved.en
dc.subjectNonsense-mediated mRNA decay; Inter-individual NMD efficiency; Regulation of NMD; Expression quantitative trait loci; Copy number variation; Staufen-mediated mRNA decay; miR-128; miR-125en
dc.titleNonsense-mediated mRNA decay: Inter-individual variability and human diseaseen
dc.typeJournal articleen
dc.identifier.rmid0020138425en
dc.identifier.doi10.1016/j.neubiorev.2013.10.016en
dc.identifier.pubid14380-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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