Results 11 to 20 of about 25,212 (153)
Attenuation of nonsense-mediated mRNA decay enhances in vivo nonsense suppression. [PDF]
PLoS ONE, 2013 Nonsense suppression therapy is an approach to treat genetic diseases caused by nonsense mutations. This therapeutic strategy pharmacologically suppresses translation termination at Premature Termination Codons (PTCs) in order to restore expression of ...
Kim M Keeling +10 more
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Molecular Interaction of Nonsense-Mediated mRNA Decay with Viruses
Viruses, 2023 The virus–host interaction is dynamic and evolutionary. Viruses have to fight with hosts to establish successful infection. Eukaryotic hosts are equipped with multiple defenses against incoming viruses.
Md Robel Ahmed, Zhiyou Du
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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
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Nature Communications, 2021 Exon junction complexes (EJCs) that mark untranslated mRNA are involved in transport, translation and nonsense-mediated mRNA decay. Here the authors show centrosomal localization of EJCs which appears to be required for both the localization of NIN mRNA ...
Oh Sung Kwon +9 more
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Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
BMC Medical Genetics, 2020 Background Marfan syndrome (MFS) is a common autosomal dominant inherited disease, and the occurrence rate is around 0.1–0.2‰. The causative variant of FNB1 gene accounts for approximately 70–80% of all MFS cases. In this study, we found a heterozygous c.
Yuping Niu +8 more
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Caffeine boosts Ataluren's readthrough activity
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 +4 more
doaj +1 more source
Non-Coding RNA, 2021 The Nonsense-Mediated mRNA Decay (NMD) has been classically viewed as a translation-dependent RNA surveillance pathway degrading aberrant mRNAs containing premature stop codons.
Sara Andjus +2 more
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Immunity of the Saccharomyces cerevisiae SSY5 mRNA to nonsense-mediated mRNA decay.
Frontiers in Molecular Biosciences, 2014 The nonsense-mediated mRNA decay (NMD) pathway is a specialized pathway that triggers the rapid degradation of select mRNAs. Initially identified as a pathway that degrades mRNAs with premature termination codons, NMD is now recognized as a pathway that ...
Bessie Wanja Kebaara +3 more
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Molecular Genetics & Genomic Medicine, 2020 Background Congenital aniridia is a severe ocular abnormality characterized by incomplete formation of the iris and many other ocular complications. Most cases are caused by the paired box 6 (PAX6) gene mutations generating premature termination codons ...
Xiaoliang Liu +4 more
doaj +1 more source