Results 1 to 10 of about 21,217 (150)
Nonsense-mediated mRNA decay: friend or foe in cancer biology? [PDF]
Cell Communication and SignalingNonsense-mediated mRNA decay (NMD) is a highly conserved RNA surveillance mechanism in eukaryotic cells. It plays a key role in safeguarding the accuracy of gene expression by eliminating mRNAs with premature termination codons (PTCs) in the cellular ...
Yuhui Wang +6 more
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Orphanet Journal of Rare Diseases, 2023 Background Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a biallelic mutation in the SMN1 gene, resulting in progressive muscle weakness and atrophy. Nusinersen is the first disease-modifying drug for all SMA types. We report
Anna Łusakowska +12 more
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Identifying RNA splicing factors using IFT genes in Chlamydomonas reinhardtii [PDF]
Open Biology, 2018 Intraflagellar transport moves proteins in and out of flagella/cilia and it is essential for the assembly of these organelles. Using whole-genome sequencing, we identified splice site mutations in two IFT genes, IFT81 (fla9) and IFT121 (ift121-2), which ...
Huawen Lin +3 more
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Molecular Therapy: Nucleic Acids, 2022 Nonsense-mediated mRNA decay (NMD) degrades transcripts with premature stop codons. Given the prevalence of nonsense single nucleotide polymorphisms (SNPs) in the general population, it is urgent to catalog the effects of clinically approved drugs on NMD
Jingrong Zhao +6 more
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RNA Biology, 2022 Cells of metazoans respond to internal and external stressors by activating stress response pathways that aim for re-establishing cellular homoeostasis or, if this cannot be achieved, triggering programmed cell death. Problems during translation, arising
Soumasree De, Oliver Mühlemann
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To NMD or Not To NMD: Nonsense-Mediated mRNA Decay in Cancer and Other Genetic Diseases [PDF]
Trends in Genetics, 2021 The nonsense-mediated mRNA decay (NMD) pathway degrades some but not all mRNAs bearing premature termination codons (PTCs). Decades of work have elucidated the molecular mechanisms of NMD. More recently, statistical analyses of large genomic datasets have allowed the importance of known and novel 'rules of NMD' to be tested and combined into methods ...
Supek, Fran +2 more
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Nonsense-Mediated mRNA Decay Factor Functions in Human Health and Disease
Biomedicines, 2023 Nonsense-mediated mRNA decay (NMD) is a cellular surveillance mechanism that degrades mRNAs with a premature stop codon, avoiding the synthesis of C-terminally truncated proteins. In addition to faulty mRNAs, NMD recognises ~10% of endogenous transcripts
Lingling Sun +2 more
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The Importance of Muscle and Nerve Biopsies in the Diagnosis of Neuromuscular Diseases
Forbes Tıp Dergisi, 2020 Although the etiopathogenesis of infections has been largely illuminated by technical and scientific developments in the past century; many issues are still not clear today. The motto 'there is no disease, there is a patient' expressed by our instructors
Gülden Diniz
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Nonsense-mediated mRNA decay uses complementary mechanisms to suppress mRNA and protein accumulation
Life Science Alliance, 2022 A reporter system for quantitative measurements of NMD-sensitive mRNA and protein levels in mammalian cells shows that NMD suppresses protein levels to a greater degree than RNA levels. Nonsense-mediated mRNA decay (NMD) is an essential, highly conserved
Dylan B Udy, Robert K Bradley
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