Results 1 to 10 of about 44,110 (224)

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.
Shan Li, Juan Li, Wenjing Shi, Ziyan Nie, Shasha Zhang, Fengdie Ma, Jun Hu, Jianjun Chen, Peiqiang Li, Xiaodong Xie   +9 more
doaj   +4 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
Tong-Yun Wang, Guo-Ju Sang, Qian Wang, Chao-Liang Leng, Zhi-Jun Tian, Jin-Mei Peng, Shu-Jie Wang, Ming-Xia Sun, Fan-Dan Meng, Hao Zheng, Xue-Hui Cai, Yan-Dong Tang   +11 more
doaj   +4 more sources

Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa. [PDF]

J Invest Dermatol, 2017
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder caused by the lack of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation of the epidermis from the underlying dermis ...
Atanasova VS, Jiang Q, Prisco M, Gruber C, Piñón Hofbauer J, Chen M, Has C, Bruckner-Tuderman L, McGrath JA, Uitto J, South AP.   +10 more
europepmc   +5 more sources

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, Yujiao Gao, Huadun Wang, Yonggang Wang, Jianmin Chen, Pingping Zhang, Hongxiang Ma   +6 more
doaj   +2 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, Yuning Song, Zhiquan Liu, Mao Chen, Jichao Deng, Yuanyuan Xu, Liangxue Lai, Zhanjun Li   +7 more
doaj   +2 more sources

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 Acids
Recessive 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, Brandon Levian, Yingping Hou, Ryan Huynh, Kate Zheng, Mei Chen   +5 more
doaj   +2 more sources

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, Catherine A. Lewis, Lihua He, Emily C. Bulik-Sullivan, Samuel C. Gallant, Teresa M. Mascenik, Hong Dang, Deborah M. Cholon, Martina Gentzsch, Lisa C. Morton, John T. Minges, Jonathan W. Theile, Neil A. Castle, Michael R. Knowles, Adam J. Kimple, Scott H. Randell   +15 more
doaj   +2 more sources

Ataluren and similar compounds (specific therapies for premature termination codon class I mutations) for cystic fibrosis. [PDF]

Cochrane Database Syst Rev, 2017
Cystic fibrosis is a common life-shortening genetic disorder in the Caucasian population (less common in other ethnic groups) caused by the mutation of a single gene that codes for the production of the cystic fibrosis transmembrane conductance regulator
Aslam AA, Higgins C, Sinha IP, Southern KW.   +3 more
europepmc   +2 more sources