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61por Keeling, Kim M.“…In-frame premature termination codons (PTCs) (also referred to as nonsense mutations) comprise ~10% of all disease-associated gene lesions. …”
Publicado 2016
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62“…Nonsense-mediated mRNA decay is the process by which mRNAs bearing premature stop codons are recognized and cleared from the cell. …”
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63por Cohen, Sarit, Kramarski, Lior, Levi, Shahar, Deshe, Noa, Ben David, Oshrit, Arbely, Eyal“…Moreover, we found that significant reinitiation of translation can be promoted by nonsense mutations located even 126 codons downstream of the 5′-proximal initiation site, and observed when the reinitiation site is positioned between 6 and 243 bases downstream of the nonsense mutation. …”
Publicado 2019
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64por Martorell, Lluis, Cortina, Vicente, Parra, Rafael, Barquinero, Jordi, Vidal, Francisco“…Readthrough therapy relies on the use of small molecules that enable premature termination codons in mRNA open reading frames to be misinterpreted by the translation machinery, thus allowing the generation of full-length, potentially functional proteins from mRNA carrying nonsense mutations. In patients with hemophilia A, nonsense mutations potentially sensitive to readthrough agents represent approximately 16% of the point mutations. …”
Publicado 2020
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65“…Afflictions of the plant and animal kingdoms with viral infections have forced the host organism to evolve new or exploit existing systems to develop the countermeasures needed to offset viral insults. As one example, nonsense-mediated mRNA decay, a cellular quality-control mechanism ensuring the translational fidelity of mRNA transcripts, has been used to restrict virus replication in both plants and animals. …”
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66por Vössing, Christine, Owczarek-Lipska, Marta, Nagel-Wolfrum, Kerstin, Reiff, Charlotte, Jüschke, Christoph, Neidhardt, John“…We identified the novel hemizygous nonsense mutation c.1154T > A, p.Leu385* (NM_000328.3) causing a UAA PTC in RPGR and generated patient-derived fibroblasts. …”
Publicado 2020
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67“…Nonsense mutations change an amino acid codon to a premature termination codon (PTC) generally through a single‐nucleotide substitution. …”
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68por Massey, Irving“…My basic argument is that a computer cannot distinguish between metaphor and nonsense. This would be my new “Turing Test.” I was very fond of a particular Italian poem, but I was told by an Italian friend that it was a hackneyed poem of little worth. …”
Publicado 2021
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69“…Nonsense-mediated mRNA decay (NMD) is an mRNA degradation pathway that eliminates transcripts containing premature termination codons (PTCs). …”
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70“…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. …”
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77“…One of the host antiviral defenses is the nonsense-mediated mRNA decay (NMD), an evolutionarily conserved mechanism for RNA quality control in eukaryotic cells. …”
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78por Albers, Suki, Allen, Elizabeth C., Bharti, Nikhil, Davyt, Marcos, Joshi, Disha, Perez-Garcia, Carlos G., Santos, Leonardo, Mukthavaram, Rajesh, Delgado-Toscano, Miguel Angel, Molina, Brandon, Kuakini, Kristen, Alayyoubi, Maher, Park, Kyoung-Joo Jenny, Acharya, Grishma, Gonzalez, Jose A., Sagi, Amit, Birket, Susan E., Tearney, Guillermo J., Rowe, Steven M., Manfredi, Candela, Hong, Jeong S., Tachikawa, Kiyoshi, Karmali, Priya, Matsuda, Daiki, Sorscher, Eric J., Chivukula, Pad, Ignatova, Zoya“…Nonsense mutations are the underlying cause of approximately 11% of all inherited genetic diseases(1). …”
Publicado 2023
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79“…BACKGROUND: In eukaryotes mRNA transcripts of protein-coding genes in which an intron has been retained in the coding region normally result in premature stop codons and are therefore degraded through the nonsense-mediated mRNA decay (NMD) pathway. There is evidence in the form of selective pressure for in-frame stop codons in introns and a depletion of length three introns that this is an important and conserved quality-control mechanism. …”
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