Results 11 to 20 of about 62,957 (275)
Ataluren as an agent for therapeutic nonsense suppression. [PDF]
Annu Rev Med, 2013 The interplay of translation and mRNA turnover has helped unveil how the regulation of gene expression is a continuum in which events that occur during the birth of a transcript in the nucleus can have profound effects on subsequent steps in the cytoplasm.
Peltz SW, Morsy M, Welch EM, Jacobson A.
europepmc +6 more sources
Nonsense suppression therapies in ocular genetic diseases. [PDF]
Cell Mol Life Sci, 2015 Premature termination codons (PTCs) are caused by nonsense mutations and this leads to either degradation of the mutant mRNA template by nonsense-mediated decay (NMD) or the production of a non-functional, truncated polypeptide. PTCs contribute significantly to inherited human diseases including ocular disorders.
Wang X, Gregory-Evans CY.
europepmc +5 more sources
Suppressing nonsense--a surprising function for 5-azacytidine. [PDF]
EMBO Molecular Medicine, 2014 In this issue of EMBO Molecular Medicine, Bhuvanagiri et al report on a chemical means to convert molecular junk into gold. They identify a chemical inhibitor of a quality control pathway that is best known for its ability to clear cells of rubbish, but ...
Shao, Ada, Wilkinson, Miles F
core +6 more sources
Inducing nonsense suppression by targeted pseudouridylation. [PDF]
Nat Protoc, 2012 Isomerization from uridine to pseudouridine (pseudouridylation) is largely catalyzed by a family of small ribonucleoproteins called box H/ACA RNPs, each of which contains one unique small RNA-the box H/ACA RNA. The specificity of the pseudouridylation reaction is determined by the base-pairing interactions between the guide sequence of the box H/ACA ...
Huang C, Wu G, Yu YT.
europepmc +4 more sources
Nonsense mRNA suppression via nonstop decay
eLife, 2018 Nonsense-mediated mRNA decay is the process by which mRNAs bearing premature stop codons are recognized and cleared from the cell. While considerable information has accumulated regarding recognition of the premature stop codon, less is known about the ...
Joshua A Arribere, Andrew Z Fire
doaj +5 more sources
StopKB: a comprehensive knowledgebase for nonsense suppression therapies. [PDF]
Database (Oxford)Abstract Nonsense variations, characterized by premature termination codons, play a major role in human genetic diseases as well as in cancer susceptibility. Despite their high prevalence, effective therapeutic strategies targeting premature termination codons remain a challenge.
Haas N +4 more
europepmc +3 more sources
Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4st72 allele in zebrafish. [PDF]
PLoS ONE, 2019 Nonsense suppression therapy (NST) utilizes compounds such as PTC124 (Ataluren) to induce translational read-through of stop variants by promoting the insertion of near cognate, aminoacyl tRNAs that yield functional proteins.
Max Krall +2 more
doaj +2 more sources
Heterologous expression and nonsense suppression provide insights into agonist behavior at α6β2 nicotinic acetylcholine receptors. [PDF]
Neuropharmacology, 2015 The α6-containing subtypes of the nicotinic acetylcholine receptor (nAChR) are localized to presynaptic terminals of the dopaminergic pathways of the central nervous system.
Post MR +3 more
europepmc +3 more sources
Nonsense suppression activity of PTC124 (ataluren). [PDF]
Proc Natl Acad Sci U S A, 2009 Auld et al. (1) suggest that PTC124's nonsense suppression activity may be an indirect consequence of the compound's effects on firefly luciferase (FLuc) enzymatic activity. However, our initial characterization of potential nonsense-suppressing compounds in FLuc assays also utilized independent assays of nonsense suppression in disease-relevant ...
Peltz SW +6 more
europepmc +4 more sources
Efficient suppression of endogenous CFTR nonsense mutations using anticodon-engineered transfer RNAs
Molecular Therapy: Nucleic Acids, 2022 Nonsense mutations or premature termination codons (PTCs) comprise ∼11% of all genetic lesions, which result in over 7,000 distinct genetic diseases. Due to their outsized impact on human health, considerable effort has been made to find therapies for ...
Wooree Ko +4 more
doaj +3 more sources