Results 11 to 20 of about 133,000 (265)

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

Journal 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   +2 more sources

Análisis genético y molecular del síndrome de Maroteaux-Lamy [PDF]

, 2008
[spa] Esta tesis es una contribución al conocimiento del síndrome de Maroteux-Lamy en el terreno de la genética molecular. El síndrome de Maroteaux-Lamy o mucopolisacaridosis de tipo VI (MPS VI) es una grave enfermedad hereditaria muy poco frecuente en ...
Garrido Fernández, Elena
core   +6 more sources

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

A Simple and Affordable Method to Create Nonsense Mutation Clones of p53 for Studying the Premature Termination Codon Readthrough Activity of PTC124

Biomedicines, 2023
(1) Background: A premature termination codon (PTC) can be induced by a type of point mutation known as a nonsense mutation, which occurs within the coding region. Approximately 3.8% of human cancer patients have nonsense mutations of p53.
Chia-Chi Chen, Ruo-Yu Liao, Fang-Yu Yeh, Yu-Rou Lin, Tze-You Wu, Alexa Escobar Pastor, Danny Danilo Zul, Yun-Chien Hsu, Kuan-Yo Wu, Ke-Fang Liu, Reiji Kannagi, Jang-Yi Chen, Bi-He Cai   +12 more
doaj   +1 more source

Selection on Position of Nonsense Codons in Introns [PDF]

Genetics, 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 ...
Megan G, Behringer, David W, Hall
openaire   +2 more sources

2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations

Nature Communications, 2020
Nonsense mutations can be corrected by several molecules that activate readthrough of premature termination codon. Here, the authors report that 2,6-diaminopurine efficiently corrects UGA nonsense mutations with no significant toxicity.
Carole Trzaska, Séverine Amand, Christine Bailly, Catherine Leroy, Virginie Marchand, Evelyne Duvernois-Berthet, Jean-Michel Saliou, Hana Benhabiles, Elisabeth Werkmeister, Thierry Chassat, Romain Guilbert, David Hannebique, Anthony Mouray, Marie-Christine Copin, Pierre-Arthur Moreau, Eric Adriaenssens, Andreas Kulozik, Eric Westhof, David Tulasne, Yuri Motorin, Sylvie Rebuffat, Fabrice Lejeune   +21 more
doaj   +1 more source

A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies. [PDF]

PLoS ONE, 2018
Nonsense mutations are present in 10% of patients with CF, produce a premature termination codon in CFTR mRNA causing early termination of translation, and lead to lack of CFTR function.
Daniel R McHugh, Miarasa S Steele, Dana M Valerio, Alexander Miron, Rachel J Mann, David F LePage, Ronald A Conlon, Calvin U Cotton, Mitchell L Drumm, Craig A Hodges   +9 more
doaj   +1 more source

Intranuclear degradation of nonsense codon‐containing mRNA [PDF]

The EMBO 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, Wilkinson, Miles F., Mühlemann, Oliver   +2 more
openaire   +3 more sources

Stops making sense: translational trade-offs and stop codon reassignment [PDF]

, 2011
Background Efficient gene expression involves a trade-off between (i) premature termination of protein synthesis; and (ii) readthrough, where the ribosome fails to dissociate at the terminal stop. Sense codons that are similar in sequence to stop codons
Steven C Le Comber, Johnson, Louise J, Johnson, LJ, Le Comber Steven C, Nichols Richard A, Louise J Johnson, Polly, PD, Lichtenstein, CP, Polly p David, Cotton, James A., Le Comber, SC, p David Polly, Le Comber, Steven C., Conrad P Lichtenstein, Cotton, JA, Nichols, RA, Lichtenstein Conrad P, James A Cotton, Elgar, GS, Elgar, Greg S., Lichtenstein, Conrad P., Elgar Greg S, Nichols, Richard A., Greg S Elgar, Cotton James A, Johnson Louise J, Johnson, Louise J., Richard A Nichols, Polly, P. David   +28 more
core   +2 more sources

Noisy splicing, more than expression regulation, explains why some exons are subject to nonsense-mediated mRNA decay

BMC Biology, 2009
Background Nonsense-mediated decay is a mechanism that degrades mRNAs with a premature termination codon. That some exons have premature termination codons at fixation is paradoxical: why make a transcript if it is only to be destroyed?
Hu Landian, Zhou Li, Wang Ping, Xin Dedong, Zhang Zhenguo, Kong Xiangyin, Hurst Laurence D   +6 more
doaj   +1 more source