Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development [PDF]
Biomolecules, 2023 Around 11% of all known gene lesions causing human genetic diseases are nonsense mutations that introduce a premature stop codon (PTC) into the protein-coding gene sequence.
Xiaodong Xie
exaly +5 more sources
CRISPR-induced exon skipping is dependent on premature termination codon mutations [PDF]
Genome Biology, 2018 In previous studies, CRISPR/Cas9 was shown to induce unexpected exon skipping; however, the mechanism by which this phenomenon is triggered is controversial.
Tingting Sui +7 more
doaj +3 more sources
Generation of Premature Termination Codon (PTC)-Harboring Pseudorabies Virus (PRV) via Genetic Code Expansion Technology [PDF]
Viruses, 2022 Despite many efforts and diverse approaches, developing an effective herpesvirus vaccine remains a great challenge. Traditional inactivated and live-attenuated vaccines always raise efficacy or safety concerns. This study used Pseudorabies virus (PRV), a
Hao Zheng, Yan-Dong Tang, Zhi-Jun Tian
exaly +4 more sources
The antimalarial drug mefloquine enhances TP53 premature termination codon readthrough by aminoglycoside G418. [PDF]
PLoS ONE, 2019 Nonsense mutations constitute ~10% of TP53 mutations in cancer. They introduce a premature termination codon that gives rise to truncated p53 protein with impaired function.
Michael W Ferguson +9 more
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Nonsense-mediated mRNA decay factors target short poly(A)-tailed mRNAs lacking a premature termination codon [PDF]
Nature CommunicationsNonsense-mediated mRNA decay (NMD) is a conserved eukaryotic surveillance pathway known to degrade mRNAs containing premature termination codons (PTCs).
Toni Gouhier +2 more
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Ataluren—Promising Therapeutic Premature Termination Codon Readthrough Frontrunner [PDF]
Pharmaceuticals, 2021 Around 12% of hereditary disease-causing mutations are in-frame nonsense mutations. The expression of genes containing nonsense mutations potentially leads to the production of truncated proteins with residual or virtually no function.
Sylwia Michorowska
doaj +2 more sources
Premature Termination Codon of 1Dy12 Gene Improves Cookie Quality in Ningmai9 Wheat [PDF]
Frontiers in Plant Science, 2022 The area between middle and lower reaches of the Yangtze River is the largest region for soft wheat production in China. In soft wheat breeding, the lack of germplasm with desirable quality for end-use products is a barrier.
Guangxiao Liu +6 more
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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 +2 more sources
Novel eRF3a degrader enhances gentamicin-induced premature termination codon readthrough in epidermolysis bullosa [PDF]
Molecular Therapy: Nucleic AcidsRecessive dystrophic epidermolysis bullosa (RDEB) and junctional epidermolysis bullosa (JEB) are severe blistering skin disorders caused by mutations in genes encoding type VII collagen (COL7A1) and laminin 332 (LAMA3, LAMB3, or LAMC2), respectively.
Kathleen L. Miao +5 more
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Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough [PDF]
The Journal of Clinical Investigation, 2022 The vast majority of people with cystic fibrosis (CF) are now eligible for CF transmembrane regulator (CFTR) modulator therapy. The remaining individuals with CF harbor premature termination codons (PTCs) or rare CFTR variants with limited treatment ...
Rhianna E. Lee +15 more
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