To NMD or not to NMD: nonsense-mediated mRNA decay in cancer and other genetic diseases

F Supek, B Lehner, RGH Lindeboom - Trends in Genetics, 2021 - cell.com
The nonsense-mediated mRNA decay (NMD) pathway degrades some but not all mRNAs
bearing premature termination codons (PTCs). Decades of work have elucidated the …

Nonsense-mediated mRNA decay: an intricate machinery that shapes transcriptomes

S Lykke-Andersen, TH Jensen - Nature reviews Molecular cell biology, 2015 - nature.com
Nonsense-mediated mRNA decay (NMD) is probably the best characterized eukaryotic RNA
degradation pathway. Through intricate steps, a set of NMD factors recognize and degrade …

Gene expression regulation by upstream open reading frames and human disease

C Barbosa, I Peixeiro, L Romão - PLoS genetics, 2013 - journals.plos.org
Upstream open reading frames (uORFs) are major gene expression regulatory elements. In
many eukaryotic mRNAs, one or more uORFs precede the initiation codon of the main …

Nonsense-mediated mRNA decay (NMD) mechanisms

S Brogna, J Wen - Nature structural & molecular biology, 2009 - nature.com
Nonsense-mediated mRNA decay (NMD) is a translation-coupled mechanism that
eliminates mRNAs containing premature translation-termination codons (PTCs). In …

A meta‐analysis of nonsense mutations causing human genetic disease

M Mort, D Ivanov, DN Cooper… - Human mutation, 2008 - Wiley Online Library
Nonsense mutations account for∼ 11% of all described gene lesions causing human
inherited disease and∼ 20% of disease‐associated single‐basepair substitutions affecting …

Features and factors that dictate if terminating ribosomes cause or counteract nonsense-mediated mRNA decay

CM Embree, R Abu-Alhasan, G Singh - Journal of Biological Chemistry, 2022 - ASBMB
Nonsense-mediated mRNA decay (NMD) is a quality control pathway in eukaryotes that
continuously monitors mRNA transcripts to ensure truncated polypeptides are not produced …

Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors

P Nicholson, H Yepiskoposyan, S Metze… - Cellular and molecular …, 2010 - Springer
Nonsense-mediated decay is well known by the lucid definition of being a RNA surveillance
mechanism that ensures the speedy degradation of mRNAs containing premature …

How to get away with nonsense: Mechanisms and consequences of escape from nonsense‐mediated RNA decay

MC Dyle, D Kolakada, MA Cortazar… - Wiley Interdisciplinary …, 2020 - Wiley Online Library
Nonsense‐mediated RNA decay (NMD) is an evolutionarily conserved RNA quality control
process that serves both as a mechanism to eliminate aberrant transcripts carrying …

Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells

F Lejeune, LE Maquat - Current opinion in cell biology, 2005 - Elsevier
Nonsense-mediated mRNA decay (NMD) generally involves nonsense codon recognition
by translating ribosomes at a position∼ 25 nts upstream of a splicing-generated exon …

The branched nature of the nonsense-mediated mRNA decay pathway

Z Yi, M Sanjeev, G Singh - Trends in Genetics, 2021 - cell.com
Nonsense-mediated mRNA decay (NMD) is a conserved translation-coupled quality control
mechanism in all eukaryotes that regulates the expression of a significant fraction of both the …