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181por Bokhari, A’dem, Jonchere, Vincent, Lagrange, Anaïs, Bertrand, Romane, Svrcek, Magali, Marisa, Laetitia, Buhard, Olivier, Greene, Malorie, Demidova, Anastasia, Jia, Jieshuang, Adriaenssens, Eric, Chassat, Thierry, Biard, Denis S., Flejou, Jean-François, Lejeune, Fabrice, Duval, Alex, Collura, Ada“…Nonsense-mediated mRNA decay (NMD) is responsible for the degradation of mRNAs with a premature termination codon (PTC). …”
Publicado 2018
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182por Ishishita, Satoshi, Takahashi, Mayuko, Yamaguchi, Katsushi, Kinoshita, Keiji, Nakano, Mikiharu, Nunome, Mitsuo, Kitahara, Shumpei, Tatsumoto, Shoji, Go, Yasuhiro, Shigenobu, Shuji, Matsuda, Yoichi“…The nonsense mutation was not found in several quail strains with non-yellowish plumage. …”
Publicado 2018
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183por Morimoto, Yoshiro, Yoshida, Shintaro, Kinoshita, Akira, Satoh, Chisei, Mishima, Hiroyuki, Yamaguchi, Naohiro, Matsuda, Katsuya, Sakaguchi, Miako, Tanaka, Takeshi, Komohara, Yoshihiro, Imamura, Akira, Ozawa, Hiroki, Nakashima, Masahiro, Kurotaki, Naohiro, Kishino, Tatsuya, Yoshiura, Koh-ichiro, Ono, ShinjiEnlace del recurso
Publicado 2019
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184por Hug, Petra, Anderegg, Linda, Dürig, Nicole, Lepori, Vincent, Jagannathan, Vidhya, Spiess, Bernhard, Richter, Marianne, Leeb, Tosso“…A heterozygous private nonsense variant, c.487C>T, was found in the SIX6 gene. …”
Publicado 2019
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185“…Nonsense‐mediated mRNA decay (NMD) was originally coined to define a quality control mechanism that targets mRNAs with truncated open reading frames due to the presence of a premature termination codon. …”
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186por Huang, Lulu, Aghajan, Mariam, Quesenberry, Tianna, Low, Audrey, Murray, Susan F., Monia, Brett P., Guo, Shuling“…Efforts to develop treatments for diseases caused by nonsense mutations have focused on identification of small molecules that promote translational read-through of messenger RNAs (mRNAs) harboring nonsense stop codons to produce full-length proteins. …”
Publicado 2019
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187por Lee, Choongil, Hyun Jo, Dong, Hwang, Gue-Ho, Yu, Jihyeon, Kim, Jin Hyoung, Park, Se-eun, Kim, Jin-Soo, Kim, Jeong Hun, Bae, Sangsu“…A nonsense mutation is a substitutive mutation in a DNA sequence that causes a premature termination during translation and produces stalled proteins, resulting in dysfunction of a gene. …”
Publicado 2019
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188“…However, expression of this antigenic diversity is potentially regulated by Nonsense Mediated Decay (NMD) and NMD has been shown to be of variable efficiency in cancers. …”
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189“…This identifies Dbp5/DDX19 as a possible potent drug target for nonsense suppression therapy. Neurodegenerative diseases and cancer are caused in many cases by the loss of a gene product, because its mRNA contained a premature termination codon (PTC) and is thus eliminated through the nonsense mediated decay (NMD) pathway, which is described in the second half of this review. …”
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190por Borgatti, Monica, Altamura, Emiliano, Salvatori, Francesca, D’Aversa, Elisabetta, Altamura, Nicola“…Several types of thalassemia (including β(0)39-thalassemia) are caused by nonsense mutations in genes controlling globin production, leading to premature translation termination and mRNA destabilization mediated by the nonsense mediated mRNA decay. …”
Publicado 2020
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191por Trzaska, Carole, Amand, Séverine, Bailly, Christine, Leroy, Catherine, Marchand, Virginie, Duvernois-Berthet, Evelyne, Saliou, Jean-Michel, Benhabiles, Hana, Werkmeister, Elisabeth, Chassat, Thierry, Guilbert, Romain, Hannebique, David, Mouray, Anthony, Copin, Marie-Christine, Moreau, Pierre-Arthur, Adriaenssens, Eric, Kulozik, Andreas, Westhof, Eric, Tulasne, David, Motorin, Yuri, Rebuffat, Sylvie, Lejeune, Fabrice“…Nonsense mutations can be corrected by molecules with nonsense mutation readthrough activity. …”
Publicado 2020
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192por Trubitsina, Nina P., Zemlyanko, Olga M., Bondarev, Stanislav A., Zhouravleva, Galina A.“…Previously, we isolated nonsense mutations sup35-n and proposed that the viability of such mutants can be explained by readthrough of the premature stop codon. …”
Publicado 2020
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193“…A genetic screen in this sensitized background uncovered how nonsense-mediated decay (NMD), a host RNA quality control mechanism, recognizes and eliminates PVX RNAs with internal termination codons and long 3′ UTRs. …”
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194por Dergalev, Alexander A., Urakov, Valery N., Agaphonov, Michael O., Alexandrov, Alexander I., Kushnirov, Vitaly V.“…We introduced to yeast cells an additional copy of the SUP35 gene with mutated amyloidogenic domain and observed that some nonsense mutations increased the incidence of prions by several orders of magnitude. …”
Publicado 2021
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195por Marx, David, Caillard, Sophie, Olagne, Jérôme, Moulin, Bruno, Hannedouche, Thierry, Touchard, Guy, Dupuis, Arnaud, Gachet, Christian, Molitor, Anne, Bahram, Seiamak, Carapito, Raphael“…Recently, missense and nonsense dominant variants in the PODXL gene have been associated with focal segmental glomerulosclerosis (FSGS), a leading cause of nephrotic syndrome and kidney failure. …”
Publicado 2021
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196por Venturini, Arianna, Borrelli, Anna, Musante, Ilaria, Scudieri, Paolo, Capurro, Valeria, Renda, Mario, Pedemonte, Nicoletta, Galietta, Luis J. V.“…We evaluated the efficacy of combinations of drugs targeting at various levels the effects of nonsense mutations: SMG1i to protect CFTR mRNA from nonsense-mediated decay (NMD), G418 and ELX-02 for readthrough, VX-809 and VX-445 to promote protein maturation and function, PTI-428 to enhance CFTR protein synthesis. …”
Publicado 2021
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197por Sodsai, Pimpayao, Ittiwut, Chupong, Ruenjaiman, Vichaya, Ittiwut, Rungnapa, Jantarabenjakul, Watsamon, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk, Hirankarn, Nattiya“…A heterozygous nonsense variant in the TIGIT gene was identified in a patient in Thailand who had severe COVID-19, resulting in lower TIGIT expression in T cells. …”
Publicado 2022
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200por Siddiqui, Amna, Dundar, Halil, Sharma, Jyoti, Kaczmarczyk, Aneta, Echols, Josh, Dai, Yanying, Sun, Chuanxi Richard, Du, Ming, Liu, Zhong, Zhao, Rui, Wood, Tim, Sanders, Shalisa, Rasmussen, Lynn, Bostwick, James Robert, Augelli-Szafran, Corinne, Suto, Mark, Rowe, Steven M., Bedwell, David M., Keeling, Kim M.“…In this study, triamterene, an FDA-approved, antihypertensive diuretic, was found to suppress translation termination at a nonsense mutation associated with MPS I-H. Triamterene rescued enough α-L-iduronidase function to normalize glycosaminoglycan storage in cell and animal models. …”
Publicado 2023
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