Results 41 to 50 of about 12,543 (199)
Stop codon readthrough (SCR) occurs when the ribosome miscodes at a stop codon. Such readthrough events can be therapeutically desirable when a premature termination codon (PTC) is found in a critical gene.
Jamie R Wangen, Rachel Green
doaj +1 more source
Site‐Specific Protein Bioconjugation Through Cellular Incorporation of Noncanonical Amino Acids
Genetic code expansion (GCE) enables site‐specific installation of noncanonical amino acids containing bioorthogonal conjugation handles, allowing precise, homogeneous protein modification. This review examines the principles of orthogonal translation, surveys the chemistries available for chemoselective labeling, and highlights emerging multi‐site ...
Rahul Sarkar +2 more
wiley +2 more sources
The TP53 and PTEN tumour suppressor genes are inactivated by nonsense mutations in a significant fraction of human tumours. TP53 nonsense mutant tumours account for approximately one million new cancer cases per year worldwide.
Angelos Heldin +9 more
doaj +1 more source
Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough
BRCA1 is a major tumor suppressor that functions in the accurate repair of DNA double-strand breaks via homologous recombination (HR). Nonsense mutations in BRCA1 lead to inactive truncated protein products and are associated with high risk of breast and
Renata B. V. Abreu +10 more
doaj +1 more source
Genetic basis of hidden phenotypic variation revealed by increased translational readthrough in yeast. [PDF]
Eukaryotic release factors 1 and 3, encoded by SUP45 and SUP35, respectively, in Saccharomyces cerevisiae, are required for translation termination. Recent studies have shown that, besides these two key factors, several genetic and epigenetic mechanisms ...
Noorossadat Torabi, Leonid Kruglyak
doaj +1 more source
Versatile dual reporter gene systems for investigating stop codon readthrough in plants. [PDF]
Translation is most often terminated when a ribosome encounters the first in-frame stop codon (UAA, UAG or UGA) in an mRNA. However, many viruses (and some cellular mRNAs) contain "stop" codons that cause a proportion of ribosomes to terminate and others
Nga T Lao +3 more
doaj +1 more source
Recoding of Nonsense Mutation as a Pharmacological Strategy
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
Background Frontotemporal lobar degeneration (FTLD) is a devastating and progressive disorder, and a common cause of early onset dementia. Progranulin (PGRN) haploinsufficiency due to autosomal dominant mutations in the progranulin gene (GRN) is an ...
Jonathan Frew +16 more
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Peroxisomal lactate dehydrogenase is generated by translational readthrough in mammals
Translational readthrough gives rise to low abundance proteins with C-terminal extensions beyond the stop codon. To identify functional translational readthrough, we estimated the readthrough propensity (RTP) of all stop codon contexts of the human ...
Fabian Schueren +6 more
doaj +1 more source
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

