Results 1 to 10 of about 42,487 (241)

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

AAV-delivered engineered suppressor tRNA rescues visual function in mice with an inherited retinal disease [PDF]

Nature Communications
Nonsense mutations change a sense codon into a premature termination codon (PTC) in mRNA and account for approximately 18.5% of human inherited retinal diseases (IRDs)-related mutation.
Chengda Ren, Li Song, Ming Hu, Xiu Jin, Licong Liang, Fanfei Liu, Jing Su, Jiamei Fu, Yiliu Yang, Man Liu, Qiuxia Xu, Xiaoyi Wu, Min Luo, Qin Ye, Qiqi Li, Yifang An, Manjun Li, Kaiqin She, Yuquan Wei, Fang Lu, Yang Yang   +20 more
doaj   +2 more sources

Anticodon-edited tRNA enables translational readthrough of COL4A5 premature termination codons. [PDF]

PLoS ONE
Alport syndrome is caused by variants in COL4A3, COL4A4, or COL4A5, which encode the α3α4α5 chains of type IV collagen. These variants result in defects in the glomerular basement membrane (GBM) and impaired kidney function.
Kohei Omachi, Joseph J Porter, John D Lueck, Jeffrey H Miner   +3 more
doaj   +2 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

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

PLoS 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, Viktor Yurevych, Vladimir J N Bykov, Klas G Wiman   +3 more
doaj   +1 more source