Results 11 to 20 of about 12,504 (200)

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   +4 more sources

Heterologous stop codon readthrough of metazoan readthrough candidates in yeast. [PDF]

PLoS ONE, 2013
Recent analysis of genomic signatures in mammals, flies, and worms indicates that functional translational stop codon readthrough is considerably more abundant in metazoa than previously recognized, but this analysis provides only limited clues about the
Clara S Chan, Irwin Jungreis, Manolis Kellis   +2 more
doaj   +6 more sources

ARTDeco: automatic readthrough transcription detection [PDF]

BMC Bioinformatics, 2020
Background Mounting evidence suggests several diseases and biological processes target transcription termination to misregulate gene expression. Disruption of transcription termination leads to readthrough transcription past the 3′ end of genes, which ...
Samuel J. Roth, Sven Heinz, Christopher Benner   +2 more
doaj   +5 more sources

Stop codon context influences genome-wide stimulation of termination codon readthrough by aminoglycosides

eLife, 2020
Stop codon readthrough (SCR) occurs when the ribosome miscodes at a stop codon. Such readthrough events can be therapeutically desirable when a premature termination codon (PTC) is found in a critical gene.
Jamie R Wangen, Rachel Green
doaj   +2 more sources

A concerted increase in readthrough and intron retention drives transposon expression during aging and senescence

eLife
Aging and senescence are characterized by pervasive transcriptional dysfunction, including increased expression of transposons and introns. Our aim was to elucidate mechanisms behind this increased expression.
Kamil Pabis, Diogo Barardo, Olga Sirbu, Kumar Selvarajoo, Jan Gruber, Brian K Kennedy   +5 more
doaj   +2 more sources

Stop Codon Context-Specific Induction of Translational Readthrough [PDF]

Biomolecules, 2021
Premature termination codon (PTC) mutations account for approximately 10% of pathogenic variants in monogenic diseases. Stimulation of translational readthrough, also known as stop codon suppression, using translational readthrough-inducing drugs (TRIDs)
Mirco Schilff, Yelena Sargsyan, Julia Hofhuis, Sven Thoms   +3 more
doaj   +5 more sources

Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough

Frontiers in Pharmacology, 2022
BRCA1 is a major tumor suppressor that functions in the accurate repair of DNA double-strand breaks via homologous recombination (HR). Nonsense mutations in BRCA1 lead to inactive truncated protein products and are associated with high risk of breast and
Renata B. V. Abreu, Thiago T. Gomes, Thales C. Nepomuceno, Thales C. Nepomuceno, Xueli Li, Mateus Fuchshuber-Moraes, Giuliana De Gregoriis, Guilherme Suarez-Kurtz, Alvaro N. A. Monteiro, Marcelo A. Carvalho, Marcelo A. Carvalho   +10 more
doaj   +2 more sources

Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination Codons

Pharmaceuticals
Nonsense mutations that generate a premature termination codon (PTC) can induce both the accelerated degradation of mutated mRNA compared with the wild type version of the mRNA or the production of a truncated protein.
Nesrine Benslimane, Camille Loret, Pauline Chazelas, Frédéric Favreau, Pierre-Antoine Faye, Fabrice Lejeune, Anne-Sophie Lia   +6 more
doaj   +2 more sources

Caffeine boosts Ataluren's readthrough activity [PDF]

Heliyon, 2019
The readthrough of nonsense mutations by small molecules like Ataluren is considered a novel therapeutic approach to overcome the gene defect in several genetic diseases as cystic fibrosis (CF).
Laura Lentini, Raffaella Melfi, Patrizia Cancemi, Ivana Pibiri, Aldo Di Leonardo   +4 more
doaj   +4 more sources

Modulation of Viral Programmed Ribosomal Frameshifting and Stop Codon Readthrough by the Host Restriction Factor Shiftless

Viruses, 2021
The product of the interferon-stimulated gene C19orf66, Shiftless (SHFL), restricts human immunodeficiency virus replication through downregulation of the efficiency of the viral gag/pol frameshifting signal.
Sawsan Napthine, Chris H. Hill, Holly C. M. Nugent, Ian Brierley   +3 more
doaj   +2 more sources