Results 21 to 30 of about 20,553 (236)
Nonsense suppression by near-cognate tRNAs employs alternative base pairing at codon positions 1 and 3 [PDF]
Proceedings of the National Academy of Sciences of the United States of America, 2015 Allan Jacobson +2 more
exaly +2 more sources
Recoding of Nonsense Mutation as a Pharmacological Strategy
Biomedicines, 2023 Approximately 11% of genetic human diseases are caused by nonsense mutations that introduce a premature termination codon (PTC) into the coding sequence. The PTC results in the production of a potentially harmful shortened polypeptide and activation of a
Gazmend Temaj +5 more
doaj +1 more source
Interaction of Prions Causes Heritable Traits in Saccharomyces cerevisiae. [PDF]
PLoS Genetics, 2016 The concept of "protein-based inheritance" defines prions as epigenetic determinants that cause several heritable traits in eukaryotic microorganisms, such as Saccharomyces cerevisiae and Podospora anserina.
Anton A Nizhnikov +6 more
doaj +1 more source
Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations. [PDF]
PLoS ONE, 2011 BACKGROUND: Nonsense mutations in the X-linked methyl CpG-binding protein 2 (MECP2) comprise a significant proportion of causative MECP2 mutations in Rett syndrome (RTT).
Manuela Vecsler +8 more
doaj +1 more source
Suppression of dnaE nonsense mutations by pcbA1 [PDF]
Journal of Bacteriology, 1989 DNA polymerase III has been recognized as the required replication enzyme in Escherichia coli. The synthesis subunit of DNA polymerase III holoenzyme (alpha subunit) is encoded by the dnaE gene. We have reported that E. coli cells can survive and grow in the absence of a functional dnaE gene product if DNA polymerase I and the pcbA1 mutation are ...
H, Maki +3 more
openaire +2 more sources
Suppression of Nonsense Mutations by New Emerging Technologies [PDF]
International Journal of Molecular Sciences, 2020 Nonsense mutations often result from single nucleotide substitutions that change a sense codon (coding for an amino acid) to a nonsense or premature termination codon (PTC) within the coding region of a gene. The impact of nonsense mutations is two-fold: (1) the PTC-containing mRNA is degraded by a surveillance pathway called nonsense-mediated mRNA ...
Pedro Morais, Hironori Adachi, Yi-Tao Yu
openaire +2 more sources
PLoS Biology, 2023 The introduction of premature termination codons (PTCs), as a result of splicing defects, insertions, deletions, or point mutations (also termed nonsense mutations), lead to numerous genetic diseases, ranging from rare neuro-metabolic disorders to ...
Amnon Wittenstein +6 more
doaj +1 more source
Nonsense suppression activity of PTC124 (ataluren). [PDF]
Proc Natl Acad Sci U S A, 2009 Auld et al. (1) suggest that PTC124's nonsense suppression activity may be an indirect consequence of the compound's effects on firefly luciferase (FLuc) enzymatic activity. However, our initial characterization of potential nonsense-suppressing compounds in FLuc assays also utilized independent assays of nonsense suppression in disease-relevant ...
Peltz SW +6 more
europepmc +4 more sources
Nonsense and sense suppression abilities of original and derivative Methanosarcina mazei pyrrolysyl-tRNA synthetase-tRNA(Pyl) pairs in the Escherichia coli BL21(DE3) cell strain. [PDF]
PLoS ONE, 2013 Systematic studies of nonsense and sense suppression of the original and three derivative Methanosarcina mazei PylRS-tRNA(Pyl) pairs and cross recognition between nonsense codons and various tRNA(Pyl) anticodons in the Escherichia coli BL21(DE3) cell ...
Keturah A Odoi +3 more
doaj +1 more source
EBioMedicine, 2021 Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy ...
Jonathan Eintracht +3 more
doaj +1 more source