Results 21 to 30 of about 62,957 (275)

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

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

Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression. [PDF]

Proc Natl Acad Sci U S A, 2016
Roy B, Friesen WJ, Tomizawa Y, Leszyk JD, Zhuo J, Johnson B, Dakka J, Trotta CR, Xue X, Mutyam V, Keeling KM, Mobley JA, Rowe SM, Bedwell DM, Welch EM, Jacobson A.   +15 more
europepmc   +2 more sources

Recoding of Nonsense Mutation as a Pharmacological Strategy

Biomedicines, 2023
Approximately 11% of genetic human diseases are caused by nonsense mutations that introduce a premature termination codon (PTC) into the coding sequence. The PTC results in the production of a potentially harmful shortened polypeptide and activation of a
Gazmend Temaj, Pelin Telkoparan-Akillilar, Nexhibe Nuhii, Silvia Chichiarelli, Sarmistha Saha, Luciano Saso   +5 more
doaj   +1 more source

Interaction of Prions Causes Heritable Traits in Saccharomyces cerevisiae. [PDF]

PLoS Genetics, 2016
The concept of "protein-based inheritance" defines prions as epigenetic determinants that cause several heritable traits in eukaryotic microorganisms, such as Saccharomyces cerevisiae and Podospora anserina.
Anton A Nizhnikov, Tatyana A Ryzhova, Kirill V Volkov, Sergey P Zadorsky, Julia V Sopova, Sergey G Inge-Vechtomov, Alexey P Galkin   +6 more
doaj   +1 more source

Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations. [PDF]

PLoS ONE, 2011
BACKGROUND: Nonsense mutations in the X-linked methyl CpG-binding protein 2 (MECP2) comprise a significant proportion of causative MECP2 mutations in Rett syndrome (RTT).
Manuela Vecsler, Bruria Ben Zeev, Igor Nudelman, Yair Anikster, Amos J Simon, Ninette Amariglio, Gideon Rechavi, Timor Baasov, Eva Gak   +8 more
doaj   +1 more source

Suppression of Nonsense Mutations by New Emerging Technologies [PDF]

International Journal of Molecular Sciences, 2020
Nonsense mutations often result from single nucleotide substitutions that change a sense codon (coding for an amino acid) to a nonsense or premature termination codon (PTC) within the coding region of a gene. The impact of nonsense mutations is two-fold: (1) the PTC-containing mRNA is degraded by a surveillance pathway called nonsense-mediated mRNA ...
Pedro Morais, Hironori Adachi, Yi-Tao Yu
openaire   +2 more sources

Nonsense suppression by near-cognate tRNAs employs alternative base pairing at codon positions 1 and 3. [PDF]

Proc Natl Acad Sci U S A, 2015
Roy B, Leszyk JD, Mangus DA, Jacobson A.
europepmc   +2 more sources

Nonsense mutation suppression is enhanced by targeting different stages of the protein synthesis process.

PLoS Biology, 2023
The introduction of premature termination codons (PTCs), as a result of splicing defects, insertions, deletions, or point mutations (also termed nonsense mutations), lead to numerous genetic diseases, ranging from rare neuro-metabolic disorders to ...
Amnon Wittenstein, Michal Caspi, Ido Rippin, Orna Elroy-Stein, Hagit Eldar-Finkelman, Sven Thoms, Rina Rosin-Arbesfeld   +6 more
doaj   +1 more source

Nonsense and sense suppression abilities of original and derivative Methanosarcina mazei pyrrolysyl-tRNA synthetase-tRNA(Pyl) pairs in the Escherichia coli BL21(DE3) cell strain. [PDF]

PLoS ONE, 2013
Systematic studies of nonsense and sense suppression of the original and three derivative Methanosarcina mazei PylRS-tRNA(Pyl) pairs and cross recognition between nonsense codons and various tRNA(Pyl) anticodons in the Escherichia coli BL21(DE3) cell ...
Keturah A Odoi, Ying Huang, Yohannes H Rezenom, Wenshe R Liu   +3 more
doaj   +1 more source