Quality and quantity control of gene expression by nonsense-mediated mRNA decay

T Kurosaki, MW Popp, LE Maquat - Nature reviews Molecular cell …, 2019 - nature.com
Nonsense-mediated mRNA decay (NMD) is one of the best characterized and most
evolutionarily conserved cellular quality control mechanisms. Although NMD was first found …

Incomplete penetrance and variable expressivity: from clinical studies to population cohorts

R Kingdom, CF Wright - Frontiers in Genetics, 2022 - frontiersin.org
The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

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 …

Nonsense-mediated mRNA decay in humans at a glance

T Kurosaki, LE Maquat - Journal of cell science, 2016 - journals.biologists.com
Nonsense-mediated mRNA decay (NMD) is an mRNA quality-control mechanism that
typifies all eukaryotes examined to date. NMD surveys newly synthesized mRNAs and …

Regulation of cytoplasmic mRNA decay

DR Schoenberg, LE Maquat - Nature Reviews Genetics, 2012 - nature.com
Discoveries made over the past 20 years highlight the importance of mRNA decay as a
means of modulating gene expression and thereby protein production. Up until recently …

Nonsense-mediated mRNA decay: degradation of defective transcripts is only part of the story

F He, A Jacobson - Annual review of genetics, 2015 - annualreviews.org
Nonsense-mediated mRNA decay (NMD) is a eukaryotic surveillance mechanism that
monitors cytoplasmic mRNA translation and targets mRNAs undergoing premature …

Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms

AK Srivastava, CE Schwartz - Neuroscience & Biobehavioral Reviews, 2014 - Elsevier
Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common
developmental disorders present in humans. Combined, they affect between 3 and 5% of …

Nonsense‐mediated mRNA decay: novel mechanistic insights and biological impact

ED Karousis, S Nasif… - Wiley Interdisciplinary …, 2016 - Wiley Online Library
Nonsense‐mediated mRNA decay (NMD) was originally coined to define a quality control
mechanism that targets mRNAs with truncated open reading frames due to the presence of a …

Nonsense-mediated mRNA decay in neuronal physiology and neurodegeneration

MP Howe, R Patani - Trends in Neurosciences, 2023 - cell.com
The processes of mRNA export from the nucleus and subsequent mRNA translation in the
cytoplasm are of particular relevance in eukaryotic cells. In highly polarised cells such as …

Beyond quality control: The role of nonsense-mediated mRNA decay (NMD) in regulating gene expression

S Nasif, L Contu, O Mühlemann - Seminars in cell & developmental biology, 2018 - Elsevier
Nonsense-mediated mRNA decay (NMD) has traditionally been described as a quality
control system that rids cells of aberrant mRNAs with crippled protein coding potential …