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 …

Nonsense-mediated RNA decay: an emerging modulator of malignancy

K Tan, DG Stupack, MF Wilkinson - Nature Reviews Cancer, 2022 - nature.com
Nonsense-mediated RNA decay (NMD) is a highly conserved RNA turnover pathway that
selectively degrades RNAs harbouring truncating mutations that prematurely terminate …

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 …

DNMT and HDAC inhibitors induce cryptic transcription start sites encoded in long terminal repeats

D Brocks, CR Schmidt, M Daskalakis, HS Jang… - Nature …, 2017 - nature.com
Several mechanisms of action have been proposed for DNA methyltransferase and histone
deacetylase inhibitors (DNMTi and HDACi), primarily based on candidate-gene approaches …

Mechanism and regulation of the nonsense-mediated decay pathway

N Hug, D Longman, JF Cáceres - Nucleic acids research, 2016 - academic.oup.com
The Nonsense-mediated mRNA decay (NMD) pathway selectively degrades mRNAs
harboring premature termination codons (PTCs) but also regulates the abundance of a large …

Control of gene expression through the nonsense-mediated RNA decay pathway

A Nickless, JM Bailis, Z You - Cell & bioscience, 2017 - Springer
Nonsense-mediated RNA decay (NMD) was originally discovered as a cellular surveillance
pathway that safeguards the quality of mRNA transcripts in eukaryotic cells. In its canonical …

Readthrough compounds for nonsense mutations: bridging the translational gap

S Spelier, EPM van Doorn, CK van der Ent… - Trends in molecular …, 2023 - cell.com
Approximately 10% of all pathological mutations are nonsense mutations that are
responsible for several severe genetic diseases for which no treatment regimens are …

Combination Targeted Therapy to Disrupt Aberrant Oncogenic Signaling and Reverse Epigenetic Dysfunction in IDH2- and TET2-Mutant Acute Myeloid Leukemia

AH Shih, C Meydan, K Shank, FE Garrett-Bakelman… - Cancer discovery, 2017 - AACR
Genomic studies in acute myeloid leukemias (AML) have identified mutations that drive
altered DNA methylation, including TET2 and IDH2. Here, we show that models of AML …

Specific inhibition of splicing factor activity by decoy RNA oligonucleotides

P Denichenko, M Mogilevsky, A Cléry, T Welte… - Nature …, 2019 - nature.com
Alternative splicing, a fundamental step in gene expression, is deregulated in many
diseases. Splicing factors (SFs), which regulate this process, are up-or down regulated or …

[HTML][HTML] Functional rescue of c. 3846G> A (W1282X) in patient-derived nasal cultures achieved by inhibition of nonsense mediated decay and protein modulators with …

O Laselva, PDW Eckford, C Bartlett, H Ouyang… - Journal of Cystic …, 2020 - Elsevier
Background The nonsense mutation, c. 3846G> A (aka: W1282X-CFTR) leads to a truncated
transcript that is susceptible to nonsense-mediated decay (NMD) and produces a shorter …