Results 11 to 20 of about 199,160 (290)

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

open access: yesNature 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   +21 more
doaj   +2 more sources

Interaction of nonsense suppressor tRNAs and codon nonsense mutations or termination codons

open access: yesAdvances in Biological Chemistry, 2012
Codon nonsense mutations include amber, ochre, or opal mutations according to termination codon consisting of three types (TAG, TAA and TGA). Codon nonsense mutations are also divided into natural and artificial mutations. We discussed the interaction of codon nonsense mutations and suppressor tRNAs in vitro and in vivo.
Lu Zixian
openaire   +4 more sources

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

open access: yesPLoS 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   +9 more
doaj   +2 more sources

Nonsynonymous, synonymous and nonsense mutations in human cancer-related genes undergo stronger purifying selections than expectation

open access: yesBMC Cancer, 2019
Background Nonsynonymous mutations change the protein sequences and are frequently subjected to natural selection. The same goes for nonsense mutations that introduce pre-mature stop codons into CDSs (coding sequences). Synonymous mutations, however, are
Duan Chu, Lai Wei
doaj   +2 more sources

CGG: an unassigned or nonsense codon in Mycoplasma capricolum. [PDF]

open access: yesProceedings of the National Academy of Sciences, 1991
CGG is an arginine codon in the universal genetic code. We previously reported that in Mycoplasma capricolum, a relative of Gram-positive eubacteria, codon CGG did not appear in coding frames, including termination sites, and tRNA(ArgCCG) pairing with codon CGG, was not detected. These facts suggest that CGG is a nonsense (unassigned and untranslatable)
Akira Muto   +3 more
openaire   +4 more sources

Infrequent Translation of a Nonsense Codon Is Sufficient to Decrease mRNA Level [PDF]

open access: yesMolecular Biology of the Cell, 1999
In many organisms nonsense mutations decrease the level of mRNA. In the case of mammalian cells, it is still controversial whether translation is required for this nonsense-mediated RNA decrease (NMD). Although previous analyzes have shown that conditions that impede translation termination at nonsense codons also prevent NMD, the residual level of ...
Marc J. Shulman, Alla Buzina
openaire   +3 more sources

Nonsense Mutations in Close Proximity to the Initiation Codon Fail to Trigger Full Nonsense-mediated mRNA Decay [PDF]

open access: yesJournal of Biological Chemistry, 2004
Nonsense-mediated mRNA decay (NMD) is a surveillance mechanism that degrades mRNAs containing premature translation termination codons. In mammalian cells, a termination codon is ordinarily recognized as "premature" if it is located greater than 50-54 nucleotides 5' to the final exon-exon junction.
Xinjun Ji   +9 more
openaire   +5 more sources

Engineered tRNAs suppress nonsense mutations in cells and in vivo

open access: yesNature, 2023
Suppressor tRNAs adapted to the amino acid that they carry enable readthrough of premature termination codons introduced by nonsense mutations and show potential for the treatment of genetic diseases such as cystic fibrosis.
S. Albers   +26 more
semanticscholar   +1 more source

Nonsense-Mediated mRNA Decay, a Finely Regulated Mechanism

open access: yesBiomedicines, 2022
Nonsense-mediated mRNA decay (NMD) is both a mechanism for rapidly eliminating mRNAs carrying a premature termination codon and a pathway that regulates many genes.
F. Lejeune
semanticscholar   +1 more source

CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway

open access: yesNature Communications, 2022
Approximately 10% of cystic fibrosis patients harbor nonsense mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which can generate nonsense codons in the CFTR mRNA and subsequently activate the nonsense-mediated decay (NMD)
E. Sanderlin   +6 more
semanticscholar   +1 more source

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