Transcriptional Silencing of Nonsense Codon-Containing Immunoglobulin Minigenes [PDF]
Molecular Cell, 2005 Cells possess mechanisms to prevent synthesis of potentially deleterious truncated proteins caused by premature translation-termination codons (PTCs). Here, we show that PTCs can induce silencing of transcription of its cognate gene. We demonstrate for immunoglobulin (Ig)-mu minigenes expressed in HeLa cells that this transcriptional silencing is PTC ...
Bühler, Marc +3 more
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Identifying Potent Nonsense-Mediated mRNA Decay Inhibitors with a Novel Screening System
Biomedicines, 2023 Nonsense-mediated mRNA decay (NMD) is a quality control mechanism that degrades mRNAs carrying a premature termination codon. Its inhibition, alone or in combination with other approaches, could be exploited to develop therapies for genetic diseases ...
Julie Carrard +11 more
doaj +1 more source
Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations [PDF]
, 2015 Background: Retinoblastoma, the most common ocular cancer of childhood, is caused by inactivation of the RB1 tumor suppressor gene in the developing retina.
Alonso, Cristina +6 more
core +1 more source
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
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
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
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
Facile characterization of translation initiation via nonsense codon suppression [PDF]
Nucleic Acids Research, 1999 A new strategy for studying the mechanism of translation initiation in eukaryotes has been developed. The strategy involves the use of an in vitro translation system to incorporate a non-natural fluorescent amino acid into a protein from a suppressor tRNAPheCUA misacylated with that amino acid.
A V, Karginov, M, Lodder, S M, Hecht
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Recognition of Nonsense Codons in Mammalian Cells [PDF]
Proceedings of the National Academy of Sciences, 1972 The tritiated trinucleotide UGA was used in a binding assay to detect transfer RNAs that recognize this nonsense codon from calf-liver cells. Acylation of transfer RNA with labeled amino acids and determination of codon responses of aminoacyl-tRNAs demonstrate that a species of seryl-tRNA and a species of arginyl-tRNA recognize the codon UGA.
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Comparative genome analysis of Wolbachia strain wAu [PDF]
, 2014 BACKGROUND: Wolbachia intracellular bacteria can manipulate the reproduction of their arthropod hosts, including inducing sterility between populations known as cytoplasmic incompatibility (CI). Certain strains have been identified that are unable to
Harris, Simon R. +3 more
core +2 more sources