Nonsense Mutations in Close Proximity to the Initiation Codon Fail to Trigger Full Nonsense-mediated mRNA Decay [PDF]
Journal of Biological Chemistry, 2004 Nonsense-mediated mRNA decay (NMD) is a surveillance mechanism that degrades mRNAs containing premature translation termination codons. In mammalian cells, a termination codon is ordinarily recognized as "premature" if it is located greater than 50-54 nucleotides 5' to the final exon-exon junction.
Inácios, Ângela +9 more
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Anticodon-edited tRNA enables translational readthrough of COL4A5 premature termination codons. [PDF]
PLoS ONEAlport syndrome is caused by variants in COL4A3, COL4A4, or COL4A5, which encode the α3α4α5 chains of type IV collagen. These variants result in defects in the glomerular basement membrane (GBM) and impaired kidney function.
Kohei Omachi +3 more
doaj +2 more sources
Infrequent Translation of a Nonsense Codon Is Sufficient to Decrease mRNA Level [PDF]
Molecular Biology of the Cell, 1999 In many organisms nonsense mutations decrease the level of mRNA. In the case of mammalian cells, it is still controversial whether translation is required for this nonsense-mediated RNA decrease (NMD). Although previous analyzes have shown that conditions that impede translation termination at nonsense codons also prevent NMD, the residual level of ...
A, Buzina, M J, Shulman
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CRISPR-free RNA base editing mediated PTC-readthrough restores hearing in mice with Otof nonsense mutation [PDF]
Nature CommunicationsThe gene therapy achieved by AAV-mediated otoferlin-overexpression is an effective therapeutic strategy for congenital deafness. However, achieving its physiological and endogenous patterns of expression remains challenging.
Hanxiao Sun +14 more
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Converting nonsense codons into sense codons by targeted pseudouridylation [PDF]
Nature, 2011 All three translation termination codons, or nonsense codons, contain a uridine residue at the first position of the codon. Here, we demonstrate that pseudouridylation (conversion of uridine into pseudouridine (Ψ), ref. 4) of nonsense codons suppresses translation termination both in vitro and in vivo.
John, Karijolich, Yi-Tao, Yu
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Engineered tRNAs suppress nonsense mutations in cells and in vivo
Nature, 2023 Suppressor tRNAs adapted to the amino acid that they carry enable readthrough of premature termination codons introduced by nonsense mutations and show potential for the treatment of genetic diseases such as cystic fibrosis.
S. Albers +26 more
semanticscholar +1 more source
Genome-scale quantification and prediction of pathogenic stop codon readthrough by small molecules
bioRxiv, 2023 Premature termination codons (PTCs) cause ∼10-20% of Mendelian diseases and are the major mechanism of tumor suppressor gene inactivation in cancer.
Ignasi Toledano, F. Supek, Ben Lehner
semanticscholar +1 more source
Nonsense-Mediated mRNA Decay, a Finely Regulated Mechanism
Biomedicines, 2022 Nonsense-mediated mRNA decay (NMD) is both a mechanism for rapidly eliminating mRNAs carrying a premature termination codon and a pathway that regulates many genes.
F. Lejeune
semanticscholar +1 more source
Distribution and effects of nonsense polymorphisms in human genes. [PDF]
PLoS ONE, 2008 BACKGROUND: A great amount of data has been accumulated on genetic variations in the human genome, but we still do not know much about how the genetic variations affect gene function.
Yumi Yamaguchi-Kabata +6 more
doaj +1 more source
CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway
Nature Communications, 2022 Approximately 10% of cystic fibrosis patients harbor nonsense mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which can generate nonsense codons in the CFTR mRNA and subsequently activate the nonsense-mediated decay (NMD)
E. Sanderlin +6 more
semanticscholar +1 more source