Compound C inhibits nonsense-mediated RNA decay independently of AMPK [PDF]
, 2018 The nonsense mediated RNA decay (NMD) pathway safeguards the integrity of the transcriptome by targeting mRNAs with premature translation termination codons (PTCs) for degradation.
Cheruiyot, Abigael +5 more
core +2 more sources
Nonsense-mediated mRNA Decay and Cancer
Current Opinion in Genetics & Development, 2018 Nonsense-mediated mRNA decay (NMD) is a conserved mRNA surveillance pathway that cells use to ensure the quality of transcripts and to fine-tune transcript abundance. The role of NMD in cancer development is complex. In some cases, tumors have exploited NMD to downregulate gene expression by apparently selecting for mutations causing destruction of key
Maximilian W, Popp, Lynne E, Maquat
openaire +3 more sources
Characterization of the mIF4G Domains in the RNA Surveillance Protein Upf2p
Current Issues in Molecular Biology, 2023 Thirty percent of all mutations causing human disease generate mRNAs with premature termination codons (PTCs). Recognition and degradation of these PTC-containing mRNAs is carried out by the mechanism known as nonsense-mediated mRNA decay (NMD).
Edgardo M. Colón +5 more
doaj +1 more source
Strategies against nonsense: oxadiazoles as translational readthrough-inducing drugs (TRIDs) [PDF]
, 2019 This review focuses on the use of oxadiazoles as translational readthrough-inducing drugs (TRIDs) to rescue the functional full-length protein expression in mendelian genetic diseases caused by nonsense mutations.
Campofelice A. +6 more
core +1 more source
ATP hydrolysis by UPF1 is required for efficient translation termination at premature stop codons
Nature Communications, 2016 Nonsense-mediated mRNA decay (NMD) is a quality control pathway that recognizes and degrades transcripts harbouring nonsense mutations. Here the authors show that the ATPase activity of UPF1 mediates functional interactions between the NMD machinery and ...
Lucas D. Serdar +2 more
doaj +1 more source
Nonsense-mediated decay enables intron gain in Drosophila.
PLoS Genetics, 2010 Intron number varies considerably among genomes, but despite their fundamental importance, the mutational mechanisms and evolutionary processes underlying the expansion of intron number remain unknown.
Ashley Farlow +4 more
doaj +1 more source
De novo transcriptome assembly reveals sex-specific selection acting on evolving neo-sex chromosomes in Drosophila miranda. [PDF]
, 2014 BackgroundThe Drosophila miranda neo-sex chromosome system is a useful resource for studying recently evolved sex chromosomes. However, the neo-Y genomic assembly is fragmented due to the accumulation of repetitive sequence.
Bachtrog, Doris, Kaiser, Vera B
core +2 more sources
Identifying RNA splicing factors using IFT genes in Chlamydomonas reinhardtii [PDF]
, 2018 Intraflagellar transport moves proteins in and out of flagella/cilia and it is essential for the assembly of these organelles. Using whole-genome sequencing, we identified splice site mutations in two IFT genes,
Dutcher, Susan K. +3 more
core +2 more sources
Interaction of yeast eIF4G with spliceosome components Implications in pre-mRNA processing events [PDF]
, 2009 International audienceAs evidenced from mammalian cells the eukaryotic translation initiation factor eIF4G has a putative role in nuclear RNA metabolism. Here we investigate whether this role is conserved in the yeast Saccharomyces cerevisiae.
Barrass, J. David +6 more
core +2 more sources
Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation [PDF]
, 2016 Background: Breast cancer risk increases drastically in individuals carrying a germline BRCA1 mutation. The exposure to ionizing radiation for diagnostic or therapeutic purposes of BRCA1 mutation carriers is counterintuitive, since BRCA1 is active in the
A Pijpe +67 more
core +4 more sources