Translational readthrough induction of pathogenic nonsense mutations
European Journal of Medical Genetics, 2006The treatment of genetic disorders is one of the biggest challenges lying ahead of modern medicine. While major advancements have been made in gene therapy, it is still far from achieving clinical success. However, other potential methods for treating single gene related diseases have also emerged recently.
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Kinetics of Translating Ribosomes Determine the Efficiency of Programmed Stop Codon Readthrough
Journal of Molecular Biology, 2023During translation, a stop codon on the mRNA signals the ribosomes to terminate the process. In certain mRNAs, the termination fails due to the recoding of the canonical stop codon, and ribosomes continue translation to generate C-terminally extended protein. This process, termed stop codon readthrough (SCR), regulates several cellular functions.
Debaleena Kar +6 more
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Stop is not the end: Physiological implications of translational readthrough
Journal of Theoretical Biology, 1988The translational readthrough mechanism permits the occasional misreading of termination codons by normal charged tRNAs causing extended translation beyond the stop signal. In both prokaryotes and eukaryotes translational readthrough is involved in the regulation of gene expression, as for example in the synthesis of the enzyme reverse transcriptase of
H, Engelberg-Kulka +1 more
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Translational readthrough at nonsense mutations in the HSF1 gene of Saccharomyces cerevisme
Molecular and General Genetics MGG, 1992The HSF1 gene of Saccharomyces cerevisiae directs the synthesis of the heat shock transcription factor, HSF. The gene is essential; disruption mutations are lethal. Using a plasmid shuffle screen, we isolated mutations in the HSF1 gene after in vitro mutagenesis of plasmid DNA with hydroxylamine.
J B, Kopczynski, A C, Raff, J J, Bonner
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Programmed Readthrough of Translational Termination Codons
1997If alternative decoding events occur only during a translational pause, then any translational pause of sufficient duration could cause an aberrant event to occur. Of course, all translational pauses do not since much more is required than simply a translational pause.
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Factors impacting the aminoglycoside-induced UGA stop codon readthrough in selenoprotein translation
Journal of Trace Elements in Medicine and Biology, 2016Aminoglycosides (AG) are oligosaccharide antibiotics that interfere with the small ribosomal subunit in aerobic, Gram-negative bacteria, causing pathogen-destructing error rates in their protein biosynthesis. Aminoglycosides also induce mRNA misinterpretation in eukaryotic cells, especially of the UGA (Opal)-stop codon, albeit to a lower extent.
Janine, Martitz +5 more
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PTC124-Mediated Translational Readthrough of a Nonsense Mutation Causing Usher Syndrome Type 1C
Human Gene Therapy, 2011We investigated the therapeutic potential of the premature termination codon (PTC) readthrough-inducing drug PTC124 in treating the retinal phenotype of Usher syndrome, caused by a nonsense mutation in the USH1C gene. Applications in cell culture, organotypic retina cultures, and mice in vivo revealed significant readthrough and the recovery of protein
Goldmann, T. +3 more
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A sensitive assay of translational fidelity (readthrough and termination) in eukaryotic cells.
Biochemistry. Biokhimiia, 1999The process of translation termination in eukaryotes has been monitored by different types of assays, each with its own merits. We have developed an in vivo system where the reporter protein is secreted from the cells in culture thus enabling continuous monitoring of translation termination activity by simple sampling of the cell culture media.
Søgaard, T.M.M. +2 more
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Faculty Opinions recommendation of Translation readthrough mitigation.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2016openaire +2 more sources

