Results 31 to 40 of about 204,351 (287)
Nonsense mediated decay downregulates conserved alternatively spliced ABCC4 transcripts bearing nonsense codons [PDF]
Human Molecular Genetics, 2003 Drug transporters are an important part of the defense of cells against cytotoxic agents. One major group of transporters is known as multidrug resistance associated proteins (MRP; ABCC gene family). The MRPs belong to the ATP binding cassette transporter superfamily. One family member, ABCC4 (also known as MRP4) functions as a cellular efflux pump for
Jatinder Kaur, Lamba +6 more
openaire +2 more sources
A Hox gene mutation that triggers Nonsense-mediated RNA decay and affects alternative splicing during Drosophila development [PDF]
, 2003 Nonsense mutations are usually assumed to affect protein function by generating truncated protein products. Nonetheless, it is now clear that these mutations affect not just protein synthesis but also messenger RNA stability.
Akam, Michael, Alonso, Claudio R
core +2 more sources
BMC Biology, 2009 Background Nonsense-mediated decay is a mechanism that degrades mRNAs with a premature termination codon. That some exons have premature termination codons at fixation is paradoxical: why make a transcript if it is only to be destroyed?
Hu Landian +6 more
doaj +1 more source
Ataluren—Promising Therapeutic Premature Termination Codon Readthrough Frontrunner
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
semanticscholar +1 more source
An engineered Tetrahymena tRNA(Gln) for in vivo incorporation of unnatural amino acids into proteins by nonsense suppression [PDF]
, 1996 A new tRNA, THG73, has been designed and evaluated as a vehicle for incorporating unnatural amino acids site-specifically into proteins expressed in vivo using the stop codon suppression technique.
Abelson, John N. +7 more
core +1 more source
Selection on Position of Nonsense Codons in Introns [PDF]
Genetics, 2016 Abstract Introns occasionally remain in mature messenger RNAs (mRNAs) due to splicing errors and the translated, aberrant proteins that result represent a metabolic cost and may have other deleterious consequences. The nonsense-mediated decay (NMD) pathway degrades aberrant mRNAs, which it recognizes by the presence of an in-frame ...
Megan G, Behringer, David W, Hall
openaire +2 more sources
Circulation, 2019 Background: Hypertrophic cardiomyopathy (HCM) is frequently caused by mutations in myosin-binding protein C3 (MYBPC3) resulting in a premature termination codon (PTC).
T. Seeger +18 more
semanticscholar +1 more source
Suppressing nonsense--a surprising function for 5-azacytidine. [PDF]
, 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 +2 more sources
Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases. [PDF]
PLoS ONE, 2017 About 10% of patients with a genetic disease carry a nonsense mutation causing their pathology. A strategy for correcting nonsense mutations is premature termination codon (PTC) readthrough, i.e.
Hana Benhabiles +10 more
doaj +1 more source
Frontiers in Pediatrics, 2022 ObjectiveLiddle syndrome (LS) is a monogenic hypertension consistent with autosomal dominant inheritance, often with early onset high blood pressure in childhood or adolescence.
Di Zhang +11 more
doaj +1 more source