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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...

Topics

Animals
Genetic Diseases, Inborn
Genetic Variation
Humans
Models, Genetic
Nonsense Mediated mRNA Decay
Transcriptome

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

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

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