Results 1 to 10 of about 12,543 (199)
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).
Ivana Pibiri +2 more
exaly +8 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 +2 more
doaj +8 more sources
Stop Codon Context-Specific Induction of Translational Readthrough
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)
Sven Thoms, Yelena Sargsyan
exaly +4 more sources
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development
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 +4 more sources
Anticodon-engineered tRNAs restore full-length MeCP2 expression and function in Rett syndrome nonsense mutations. [PDF]
Front NeurolBackgroundRett syndrome (RTT) is a severe neurodevelopmental disorder most commonly caused by loss-of-function mutations in the MECP2 gene, including a substantial fraction of nonsense variants.
Fara E +6 more
europepmc +2 more sources
RNA <i>Cis</i>-Elements Involved in Animal Virus Stop Codon Readthrough: Stop Codon Context and Downstream RNA Structures. [PDF]
VirusesStop codon readthrough is a noncanonical translation strategy employed by certain RNA viruses, in which a viral termination codon is either decoded by host near-cognate tRNAs or canonically recognized by the class I release factor (RF, eRF1 in eukaryotes)
Kamoshita N.
europepmc +2 more sources
The functional readthrough extension of malate dehydrogenase reveals a modification of the genetic code [PDF]
Open Biology, 2016 Translational readthrough gives rise to C-terminally extended proteins, thereby providing the cell with new protein isoforms. These may have different properties from the parental proteins if the extensions contain functional domains.
Christopher Nötzel +2 more
exaly +2 more sources
Comparative evaluation of TRIDs : a strategy to improve treatments. [PDF]
J Transl MedBackground Translational readthrough represents a promising therapeutic strategy for genetic disorders caused by nonsense mutations. Although multiple translational readthrough-inducing drugs (TRIDs) have been reported, their relative efficacy remains ...
Hariss F +8 more
europepmc +2 more sources
iScience, 2022 Summary: Alport syndrome, a disease of kidney, ear, and eye, is caused by pathogenic variants in the COL4A3, COL4A4, or COL4A5 genes encoding collagen α3α4α5(IV) of basement membranes.
Kohei Omachi +3 more
doaj +1 more source
PLoS Pathogens, 2022 Different essential viral proteins are translated via programmed stop codon readthrough. Pea enation mosaic virus 1 (PEMV1) and potato leafroll virus (PLRV) are related positive-sense RNA plant viruses in the family Solemoviridae, and are type members of
Tamari Chkuaseli, K Andrew White
doaj +1 more source