Results 1 to 10 of about 133,000 (265)

The importance of nonsense errors: Estimating the rates and implications of ribosome drop-off during protein synthesis. [PDF]

PLoS Genetics
The process of translation is both energetically costly and relatively error-prone compared to transcription and replication. Nonsense errors during translation occur when a ribosome drops off a transcript before reaching a stop codon, resulting in ...
Alexander L Cope, Denizhan Pak, Michael A Gilchrist   +2 more
doaj   +2 more sources

Binary specification of nonsense codons by splicing and cytoplasmic translation [PDF]

EMBO Journal, 1998
Premature translation termination codons resulting from nonsense or frameshift mutations are common causes of genetic disorders. Complications arising from the synthesis of C-terminally truncated polypeptides can be avoided by 'nonsense-mediated decay' of the mutant mRNAs.
Gabriele Neu-Yilik, Matthias Hentze, Andreas E Kulozik   +2 more
exaly   +3 more sources

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

Nature 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, Lianwu Fu, Ming Du, Kari Thrasher, Kim M. Keeling, David M. Bedwell, Allan Jacobson   +6 more
doaj   +3 more sources

Allele-Specific Prevention of Nonsense-Mediated Decay in Cystic Fibrosis Using Homology-Independent Genome Editing

Molecular Therapy - Methods and Clinical Development, 2020
Nonsense-mediated decay (NMD) is a major pathogenic mechanism underlying a diversity of genetic disorders. Nonsense variants tend to lead to more severe disease phenotypes and are often difficult targets for small molecule therapeutic development as a ...
Christine E Bear, Onofrio Laselva, Evgueni A Ivakine   +2 more
exaly   +3 more sources

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

Cell 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, Angelos Heldin, Meiqiongzi Zhang, Charlotte Strandgren, Viktor Yurevych, Jip T. van Dinter, Sem A. G. Engels, Damon A. Hofman, Susanne Öhlin, Birthe Meineke, Vladimir J. N. Bykov, Sebastiaan van Heesch, Klas G. Wiman   +12 more
doaj   +1 more source

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

Nature, 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.
John, Karijolich, Yi-Tao, Yu
openaire   +3 more sources

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

PLoS 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, Makoto K Shimada, Yosuke Hayakawa, Shinsei Minoshima, Ranajit Chakraborty, Takashi Gojobori, Tadashi Imanishi   +6 more
doaj   +1 more source

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

SAGE 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, Song Wang, Jia-Rui Zhu, Yu-Shan Yin, Ni Zhang   +4 more
doaj   +1 more source

When a ribosome encounters a premature termination codon [PDF]

BMB 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

Poly(A)-Binding Protein Regulates the Efficiency of Translation Termination

Cell Reports, 2020
Summary: Multiple factors influence translation termination efficiency, including nonsense codon identity and immediate context. To determine whether the relative position of a nonsense codon within an open reading frame (ORF) influences termination ...
Chan Wu, Bijoyita Roy, Feng He, Kevin Yan, Allan Jacobson   +4 more
doaj   +1 more source