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Article

Nonsense-mediated mRNA decay: inter-individual variability and human disease.

Neuroscience and biobehavioral reviews - 1 Oct 2014

Nguyen Lam Son, Wilkinson Miles F, Gecz Jozef

Abstract excerpt

Nonsense-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...

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Identifiers

PMID: 24239855
DOI: 10.1016/j.neubiorev.2013.10.016
PMCID: PMC4021004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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