Caffeine boosts Ataluren's readthrough activity
Heliyon, 2019 The readthrough of nonsense mutations by small molecules like Ataluren is considered a novel therapeutic approach to overcome the gene defect in several genetic diseases as cystic fibrosis (CF).
Laura Lentini +4 more
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CLK-2/TEL2 is a conserved component of the nonsense-mediated mRNA decay pathway.
PLoS ONE, 2021 Nonsense-mediated mRNA decay (NMD) controls eukaryotic mRNA quality, inducing the degradation of faulty transcripts. Key players in the NMD pathway were originally identified, through genetics, in Caenorhabditis elegans as smg (suppressor with ...
Yanwu Guo +2 more
doaj +1 more source
Identification and characterization of novel factors that act in the nonsense-mediated mRNA decay pathway in nematodes, flies and mammals [PDF]
, 2014 Nonsense-mediated mRNA decay (NMD) is a surveillance mechanism that degrades mRNAs harboring premature termination codons (PTCs). We have conducted a genome-wide RNAi screen in Caenorhabditis elegans that resulted in the identification of five novel NMD ...
Ailion M +8 more
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Human NMD ensues independently of stable ribosome stalling
Nature Communications, 2020 Nonsense-mediated mRNA decay (NMD) was thought to ensue when ribosomes fail to terminate translation properly. However, the authors observe similar ribosome occupancy at stop codons of NMD sensitive and insensitive mRNAs, showing that human NMD is not ...
Evangelos D. Karousis +4 more
doaj +1 more source
RNA binding proteins PTBP1 and HNRNPL regulate CFTR mRNA decay
Heliyon, 2023 Background: CFTR nonsense alleles generate negligible CFTR protein due to the nonsense mutation: 1) triggering CFTR mRNA degradation by nonsense-mediated mRNA decay (NMD), and 2) terminating CFTR mRNA translation prematurely.
Amna Siddiqui +5 more
doaj +1 more source
Nonsense‐mediated mRNA decay (NMD) silences the accumulation of aberrant trypsin proteinase inhibitor mRNA in Nicotiana attenuata [PDF]
The Plant Journal, 2007 SummaryIn eukaryotes, genes carrying premature termination codons (PTCs) are often associated with decreased mRNA levels compared with their counterparts without PTCs. PTC‐harboring mRNA is rapidly degraded through the nonsense‐mediated mRNA decay (NMD) pathway to prevent the accumulation of potentially detrimental truncated proteins.
Wu, J. +3 more
openaire +3 more sources
Inhibition of nonsense-mediated mRNA decay (NMD) by a new chemical molecule reveals the dynamic of NMD factors in P-bodies [PDF]
The Journal of Cell Biology, 2007 In mammals, nonsense-mediated mRNA decay (NMD) is a quality-control mechanism that degrades mRNA harboring a premature termination codon to prevent the synthesis of truncated proteins. To gain insight into the NMD mechanism, we identified NMD inhibitor 1 (NMDI 1) as a small molecule inhibitor of the NMD pathway.
Durand, Sébastien +7 more
openaire +4 more sources
Nonsense-mediated mRNA decay factor UPF1 promotes aggresome formation
Nature Communications, 2020 Nonsense-mediated mRNA decay (NMD) is a translation-coupled process that eliminates mRNAs containing premature translation-termination codons. Here the authors identify a role for the NMD factor UPF1 in protein quality control, whereby truncated ...
Yeonkyoung Park +7 more
doaj +1 more source
eLife, 2020 Recognition and rapid degradation of mRNA harboring premature translation termination codons (PTCs) serves to protect cells from accumulating non-functional and potentially toxic truncated polypeptides. Targeting of PTC-containing transcripts is mediated
Lucas D Serdar +4 more
doaj +1 more source
Identification and functional analysis of novel phosphorylation sites in the RNA surveillance protein Upf1. [PDF]
, 2013 One third of inherited genetic diseases are caused by mRNAs harboring premature termination codons as a result of nonsense mutations. These aberrant mRNAs are degraded by the Nonsense-Mediated mRNA Decay (NMD) pathway.
Bracho, Dina P +11 more
core +1 more source