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• W1484612773 abstract "Nonsense mutations are single nucleotide variations within the coding sequence of a gene that result in a premature termination codon (PTC). The occurrence of such PTCs most often leads to a complete loss of protein function and a reduction in messenger ribonucleic acid (mRNA) levels due to the nonsense-mediated mRNA decay (NMD), a cellular surveillance mechanism that triggers selective degradation of mutant transcripts. Therapeutic approaches to circumvent the consequences of nonsense mutations may act at different levels: (1) the genomic deoxyribonucleic acid (DNA) by replacing the defective gene; (2) the mRNA by inducing the excision of the mutation-bearing exon during splicing, or by inhibiting the NMD-associated degradation and (iii) the protein by suppressing the premature termination of translation using transfer ribonucleic acid (tRNA) suppressors or drugs inducing readthrough. Indeed, a combination of these approaches may be necessary, and it is most likely that they will lead to a mutation-specific, personalised medicine. Key Concepts Nonsense mutations may lead to loss or gain of function pathological mechanisms. Premature termination codons (PTCs) resulting from nonsense mutations trigger transcript degradation through the nonsense-mediated mRNA decay (NMD) mechanism. Mutant mRNA escaping NMD lead to the synthesis of truncated proteins potentially deleterious. Skipping of nonsense mutation-bearing exons can be induced by antisense oligonucleotides and leads to internally deleted proteins that retain some functionality. tRNA suppressors enable the reintroduction of a ‘sense’ amino acid and the translation of the full-length protein by competing with the termination factor eRF1. Drug-induced readthrough of PTCs may allow synthesis of full-length functional proteins. Synergetic action between NMD inhibitors and readthrough inducers may potentialise reexpression of full-length proteins with restored functionality. Therapeutic approaches will most likely be mutation and disease specific." @default.
• W1484612773 created "2016-06-24" @default.
• W1484612773 creator A5032686287 @default.
• W1484612773 creator A5090435222 @default.
• W1484612773 date "2018-04-27" @default.
• W1484612773 modified "2023-10-16" @default.
• W1484612773 title "Nonsense Mutations Causing Inherited Diseases: Therapeutic Approaches" @default.
• W1484612773 cites W1195318580 @default.
• W1484612773 cites W1820845817 @default.
• W1484612773 cites W1910229720 @default.
• W1484612773 cites W1965472603 @default.
• W1484612773 cites W1967750945 @default.
• W1484612773 cites W1972281096 @default.
• W1484612773 cites W1974578353 @default.
• W1484612773 cites W1983806612 @default.
• W1484612773 cites W1984974246 @default.
• W1484612773 cites W1988494414 @default.
• W1484612773 cites W1988793069 @default.
• W1484612773 cites W1993469067 @default.
• W1484612773 cites W1994621182 @default.
• W1484612773 cites W1994734184 @default.
• W1484612773 cites W1996249161 @default.
• W1484612773 cites W1998986351 @default.
• W1484612773 cites W2011405092 @default.
• W1484612773 cites W2011452661 @default.
• W1484612773 cites W2014746879 @default.
• W1484612773 cites W2015087800 @default.
• W1484612773 cites W2022647537 @default.
• W1484612773 cites W2026393494 @default.
• W1484612773 cites W2031335201 @default.
• W1484612773 cites W2038428739 @default.
• W1484612773 cites W2038527941 @default.
• W1484612773 cites W2040743013 @default.
• W1484612773 cites W2045410328 @default.
• W1484612773 cites W2049842577 @default.
• W1484612773 cites W2051393205 @default.
• W1484612773 cites W2056571800 @default.
• W1484612773 cites W2062594227 @default.
• W1484612773 cites W2066841033 @default.
• W1484612773 cites W2069289373 @default.
• W1484612773 cites W2071034805 @default.
• W1484612773 cites W2071804506 @default.
• W1484612773 cites W2071895752 @default.
• W1484612773 cites W2072554320 @default.
• W1484612773 cites W2074477570 @default.
• W1484612773 cites W2078361300 @default.
• W1484612773 cites W2081681683 @default.
• W1484612773 cites W2085139769 @default.
• W1484612773 cites W2085811948 @default.
• W1484612773 cites W2092985615 @default.
• W1484612773 cites W2099837980 @default.
• W1484612773 cites W2099927467 @default.
• W1484612773 cites W2100252315 @default.
• W1484612773 cites W2103274083 @default.
• W1484612773 cites W2105552492 @default.
• W1484612773 cites W2109198433 @default.
• W1484612773 cites W2109276727 @default.
• W1484612773 cites W2115612593 @default.
• W1484612773 cites W2117472380 @default.
• W1484612773 cites W2125338916 @default.
• W1484612773 cites W2126330038 @default.
• W1484612773 cites W2128903674 @default.
• W1484612773 cites W2131056651 @default.
• W1484612773 cites W2132264109 @default.
• W1484612773 cites W2134064749 @default.
• W1484612773 cites W2136043670 @default.
• W1484612773 cites W2136942244 @default.
• W1484612773 cites W2138013424 @default.
• W1484612773 cites W2138704811 @default.
• W1484612773 cites W2139691229 @default.
• W1484612773 cites W2148743406 @default.
• W1484612773 cites W2158041351 @default.
• W1484612773 cites W2158235544 @default.
• W1484612773 cites W2158501031 @default.
• W1484612773 cites W2159814661 @default.
• W1484612773 cites W2160400422 @default.
• W1484612773 cites W2162002150 @default.
• W1484612773 cites W2166410118 @default.
• W1484612773 cites W2261840374 @default.
• W1484612773 cites W2288337573 @default.
• W1484612773 cites W2319304486 @default.
• W1484612773 cites W2325081266 @default.
• W1484612773 cites W2341428652 @default.
• W1484612773 cites W2463975511 @default.
• W1484612773 cites W2497999158 @default.
• W1484612773 cites W2528751872 @default.
• W1484612773 cites W2560202024 @default.
• W1484612773 cites W2585983133 @default.
• W1484612773 cites W2587479628 @default.
• W1484612773 cites W2590705890 @default.
• W1484612773 cites W2593956993 @default.
• W1484612773 cites W2595234941 @default.
• W1484612773 cites W2605512198 @default.
• W1484612773 cites W2606840399 @default.
• W1484612773 cites W2614145559 @default.
• W1484612773 cites W2618650759 @default.
• W1484612773 cites W2619627699 @default.
• W1484612773 cites W2623064197 @default.

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