Results 1 to 10 of about 67,384 (189)

Codon usage in vertebrates is associated with a low risk of acquiring nonsense mutations [PDF]

open access: yesJournal of Translational Medicine, 2011
Background Codon usage in genomes is biased towards specific subsets of codons. Codon usage bias affects translational speed and accuracy, and it is associated with the tRNA levels and the GC content of the genome.
Flegel Willy A, Schmid Pirmin
doaj   +4 more sources

Extended stop codon context predicts nonsense codon readthrough efficiency in human cells

open access: yesNature Communications
Protein synthesis terminates when a stop codon enters the ribosome’s A-site. Although termination is efficient, stop codon readthrough can occur when a near-cognate tRNA outcompetes release factors during decoding.
Kotchaphorn Mangkalaphiban   +6 more
doaj   +3 more sources

Translational readthrough of nonsense mutant TP53 by mRNA incorporation of 5-Fluorouridine

open access: yesCell Death and Disease, 2022
TP53 nonsense mutations in cancer produce truncated inactive p53 protein. We show that 5-FU metabolite 5-Fluorouridine (FUr) induces full-length p53 in human tumor cells carrying R213X nonsense mutant TP53.
Mireia Palomar-Siles   +12 more
doaj   +1 more source

Converting nonsense codons into sense codons by targeted pseudouridylation [PDF]

open access: yesNature, 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.
Yi-Tao Yu, John Karijolich
openaire   +3 more sources

Distribution and effects of nonsense polymorphisms in human genes. [PDF]

open access: yesPLoS 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

Selection on Position of Nonsense Codons in Introns [PDF]

open access: yesGenetics, 2016
Abstract Introns occasionally remain in mature messenger RNAs (mRNAs) due to splicing errors and the translated, aberrant proteins that result represent a metabolic cost and may have other deleterious consequences. The nonsense-mediated decay (NMD) pathway degrades aberrant mRNAs, which it recognizes by the presence of an in-frame ...
David W. Hall, Megan G. Behringer
openaire   +2 more sources

A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the gene

open access: yesSAGE Open Medical Case Reports, 2022
Duchenne muscular dystrophy is a severe, X-linked, progressive neuromuscular disorder clinically characterised by muscle weakening and extremely high serum creatine kinase levels.
Xing-Chuan Li   +4 more
doaj   +1 more source

When a ribosome encounters a premature termination codon [PDF]

open access: yesBMB Reports, 2013
In mammalian cells, aberrant transcripts harboring a prematuretermination codon (PTC) can be generated by abnormal orinefficient biogenesis of mRNAs or by somatic mutation.Truncated polypeptides synthesized from these aberranttranscripts could be toxic ...
Jungwook Hwang, Yoon Ki Kim
doaj   +1 more source

Intranuclear degradation of nonsense codon‐containing mRNA [PDF]

open access: yesEMBO reports, 2002
Most vertebrate mRNAs with premature termination codons (PTCs) are specifically recognized and degraded by a process referred to as nonsense‐mediated mRNA decay (NMD) while still associated with the nucleus. However, it is still a matter of debate whether PTCs can be identified by intranuclear scanning or only by ribosomes on the cytoplasmic side of ...
Bühler, Marc   +2 more
openaire   +3 more sources

Pharmacological induction of translational readthrough of nonsense mutations in the retinoblastoma (RB1) gene.

open access: yesPLoS ONE, 2023
The retinoblastoma protein (Rb) is encoded by the RB1 tumor suppressor gene. Inactivation of RB1 by inherited or somatic mutation occurs in retinoblastoma and various other types of tumors.
Mireia Palomar-Siles   +3 more
doaj   +1 more source

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