Results 21 to 30 of about 59,267 (253)
Intracellular calcium regulates nonsense-mediated mRNA decay [PDF]
Nature Medicine, 2014 The nonsense-mediated mRNA decay (NMD) pathway selectively eliminates aberrant transcripts containing premature translation termination codons and regulates the levels of a number of physiological mRNAs. NMD modulates the clinical outcome of a variety of human diseases, including cancer and many genetic disorders, and may represent a target for ...
Nickless, Andrew +6 more
openaire +2 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 +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
doaj +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
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
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
Identifying Potent Nonsense-Mediated mRNA Decay Inhibitors with a Novel Screening System
Biomedicines, 2023 Nonsense-mediated mRNA decay (NMD) is a quality control mechanism that degrades mRNAs carrying a premature termination codon. Its inhibition, alone or in combination with other approaches, could be exploited to develop therapies for genetic diseases ...
Julie Carrard +11 more
doaj +1 more source
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
Identification and functional analysis of novel phosphorylation sites in the RNA surveillance protein Upf1. [PDF]
, 2013 One third of inherited genetic diseases are caused by mRNAs harboring premature termination codons as a result of nonsense mutations. These aberrant mRNAs are degraded by the Nonsense-Mediated mRNA Decay (NMD) pathway.
Bracho, Dina P +11 more
core +1 more source
SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity
Nature Communications, 2021 Degradation of nonsense mediated mRNA decay (NMD) substrates is carried out by two seemingly independent pathways, SMG6-mediated endonucleolytic cleavage and/or SMG5-SMG7-induced accelerated deadenylation.
Volker Boehm +8 more
doaj +1 more source