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Relevant bibliographies by topics / Readthrough molecule

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Academic literature on the topic 'Readthrough molecule'

Author: Grafiati

Published: 30 November 2024

Last updated: 31 July 2025

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Journal articles on the topic "Readthrough molecule"

1

Benslimane, Nesrine, Camille Loret, Pauline Chazelas, et al. "Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination Codons." Pharmaceuticals 17, no. 3 (2024): 314. http://dx.doi.org/10.3390/ph17030314.

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Nonsense mutations that generate a premature termination codon (PTC) can induce both the accelerated degradation of mutated mRNA compared with the wild type version of the mRNA or the production of a truncated protein. One of the considered therapeutic strategies to bypass PTCs is their “readthrough” based on small-molecule drugs. These molecules promote the incorporation of a near-cognate tRNA at the PTC position through the native polypeptide chain. In this review, we detailed the various existing strategies organized according to pharmacological molecule types through their different mechan

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2

Baradaran-Heravi, Alireza, Aruna D. Balgi, Sara Hosseini-Farahabadi, Kunho Choi, Cristina Has, and Michel Roberge. "Effect of small molecule eRF3 degraders on premature termination codon readthrough." Nucleic Acids Research 49, no. 7 (2021): 3692–708. http://dx.doi.org/10.1093/nar/gkab194.

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Abstract Premature termination codon (PTC) readthrough is considered a potential treatment for genetic diseases caused by nonsense mutations. High concentrations of aminoglycosides induce low levels of PTC readthrough but also elicit severe toxicity. Identifying compounds that enhance PTC readthrough by aminoglycosides or reduce their toxicity is a continuing challenge. In humans, a binary complex of eukaryotic release factors 1 (eRF1) and 3 (eRF3a or eRF3b) mediates translation termination. They also participate in the SURF (SMG1-UPF1-eRF1-eRF3) complex assembly involved in nonsense-mediated

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3

Perriera, Riccardo, Emanuele Vitale, Ivana Pibiri, et al. "Readthrough Approach Using NV Translational Readthrough-Inducing Drugs (TRIDs): A Study of the Possible Off-Target Effects on Natural Termination Codons (NTCs) on TP53 and Housekeeping Gene Expression." International Journal of Molecular Sciences 24, no. 20 (2023): 15084. http://dx.doi.org/10.3390/ijms242015084.

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Nonsense mutations cause several genetic diseases such as cystic fibrosis, Duchenne muscular dystrophy, β-thalassemia, and Shwachman–Diamond syndrome. These mutations induce the formation of a premature termination codon (PTC) inside the mRNA sequence, resulting in the synthesis of truncated polypeptides. Nonsense suppression therapy mediated by translational readthrough-inducing drugs (TRIDs) is a promising approach to correct these genetic defects. TRIDs generate a ribosome miscoding of the PTC named “translational readthrough” and restore the synthesis of full-length and potentially functio

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4

Hosseini-Farahabadi, Sara, Alireza Baradaran-Heravi, Carla Zimmerman, Kunho Choi, Stephane Flibotte, and Michel Roberge. "Small molecule Y-320 stimulates ribosome biogenesis, protein synthesis, and aminoglycoside-induced premature termination codon readthrough." PLOS Biology 19, no. 5 (2021): e3001221. http://dx.doi.org/10.1371/journal.pbio.3001221.

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Premature termination codons (PTC) cause over 10% of genetic disease cases. Some aminoglycosides that bind to the ribosome decoding center can induce PTC readthrough and restore low levels of full-length functional proteins. However, concomitant inhibition of protein synthesis limits the extent of PTC readthrough that can be achieved by aminoglycosides like G418. Using a cell-based screen, we identified a small molecule, the phenylpyrazoleanilide Y-320, that potently enhances TP53, DMD, and COL17A1 PTC readthrough by G418. Unexpectedly, Y-320 increased cellular protein levels and protein synth

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5

Simmons, Zoe R., Amanda Sherwood, Selena Li, Sylvie Garneau-Tsodikova, and Matthew Gentry. "2348 Lafora disease premature termination codons (PTCs) are likely candidates for suppression by aminoglycosides." Journal of Clinical and Translational Science 2, S1 (2018): 16–17. http://dx.doi.org/10.1017/cts.2018.90.

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OBJECTIVES/SPECIFIC AIMS: A small molecule therapy is within reach to treat a molecular mechanism known to result in thousands of fatal diseases. For 10% of patients with a genetic disease, a nonsense/STOP mutation/premature termination codon (PTC) is the underlying cause of their malady. PTCs prematurely stop protein synthesis and yield truncated proteins. Truncated proteins typically provide little to no proper function or activity and are rapidly degraded; thus, disease is imminent. Recent work has demonstrated that small molecules including aminoglycosides can cause the ribosome to readthr

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Pranke, Iwona, Laure Bidou, Natacha Martin, et al. "Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons." ERJ Open Research 4, no. 1 (2018): 00080–2017. http://dx.doi.org/10.1183/23120541.00080-2017.

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Premature termination codons (PTCs) are generally associated with severe forms of genetic diseases. Readthrough of in-frame PTCs using small molecules is a promising therapeutic approach. Nonetheless, the outcome of preclinical studies has been low and variable. Treatment efficacy depends on: 1) the level of drug-induced readthrough, 2) the amount of target transcripts, and 3) the activity of the recoded protein. The aim of the present study was to identify, in the cystic fibrosis transmembrane conductance regulator (CFTR) model, recoded channels from readthrough therapy that may be enhanced u

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7

Mathews, Paul. "32329 A novel mouse model of Ataxia Telangiectasia for testing small molecule readthrough compounds." Journal of Clinical and Translational Science 5, s1 (2021): 11. http://dx.doi.org/10.1017/cts.2021.430.

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ABSTRACT IMPACT: Small molecule readthrough compounds are a promising therapeutic with the potential to overcome nonsense mutations thereby enabling the production of functional ATM protein in patients with Ataxia Telangiectasia OBJECTIVES/GOALS: To generate a novel mouse model of Ataxia-Telangiectasia for testing small molecule readthrough compounds that both expresses a clinically relevant nonsense mutation and recapitulates the major symptoms of the disease, including a progressive loss of motor coordination not previously observed in prior A-T animal models. METHODS/STUDY POPULATION: Using

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Kuang, Lisha, Kei Hashimoto, Eric J. Huang, Matthew S. Gentry, and Haining Zhu. "Frontotemporal dementia non-sense mutation of progranulin rescued by aminoglycosides." Human Molecular Genetics 29, no. 4 (2020): 624–34. http://dx.doi.org/10.1093/hmg/ddz280.

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Abstract Frontotemporal dementia (FTD) is an early onset dementia characterized by progressive atrophy of the frontal and/or temporal lobes. FTD is highly heritable with mutations in progranulin accounting for 5–26% of cases in different populations. Progranulin is involved in endocytosis, secretion and lysosomal processes, but its functions under physiological and pathological conditions remains to be defined. Many FTD-causing non-sense progranulin mutations contain a premature termination codon (PTC), thus progranulin haploinsufficiency has been proposed as a major disease mechanism. Current

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Wagner, Roland N., Michael Wießner, Andreas Friedrich, Johanna Zandanell, Hannelore Breitenbach-Koller, and Johann W. Bauer. "Emerging Personalized Opportunities for Enhancing Translational Readthrough in Rare Genetic Diseases and Beyond." International Journal of Molecular Sciences 24, no. 7 (2023): 6101. http://dx.doi.org/10.3390/ijms24076101.

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Nonsense mutations trigger premature translation termination and often give rise to prevalent and rare genetic diseases. Consequently, the pharmacological suppression of an unscheduled stop codon represents an attractive treatment option and is of high clinical relevance. At the molecular level, the ability of the ribosome to continue translation past a stop codon is designated stop codon readthrough (SCR). SCR of disease-causing premature termination codons (PTCs) is minimal but small molecule interventions, such as treatment with aminoglycoside antibiotics, can enhance its frequency. In this

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Liu, Yi-Lin, Paris Margaritis, Fayaz Khazi, et al. "Nonsense Suppression Approaches in Treating Hemophilia." Blood 112, no. 11 (2008): 512. http://dx.doi.org/10.1182/blood.v112.11.512.512.

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Abstract Genetic diseases can result from nonsense mutations that cause premature translation termination. Nonsense mutations account for ~10–15% of all cases of hemophilia A and B and this population may benefit from small molecule-induced readthrough of nonsense codons. Recent studies document the ability of an orally bioavailable small molecule, PTC124, to facilitate dose-dependent readthrough of nonsense codons in a variety of in vitro and in vivo systems, including reporter gene constructs, mdx mice (a murine model of Duchenne muscular dystrophy; Nature447:87–91, 2007), and in a mouse mod

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Dissertations / Theses on the topic "Readthrough molecule"

1

Ramarao, Rachana. "Molecular studies of programmed -1 ribosomal frameshifting and translational readthrough." Thesis, University of Cambridge, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.615726.

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Loret, Camille. "Maladie de Charcot-Marie-Tooth : création de modèles cellulaires neuronaux via les technologies hiPSCs et CRISPR-Cas9 et test de nouvelles stratégies thérapeutiques." Electronic Thesis or Diss., Limoges, 2024. http://www.theses.fr/2024LIMO0067.

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La maladie de Charcot-Marie-Tooth (CMT) est la neuropathie périphérique héréditaire la plus fréquente chez l’humain. Elle touche les motoneurones (MN) et les cellules de Schwann (CS). La majorité des gènes impliqués, dont SH3TC2 et GDAP1, peuvent être affectés par des mutations non-sens. En 2021, peu de modèles cellulaires humains existaient, et aucun traitement curatif n'était disponible pour les patients. Les travaux de cette thèse se centre sur SH3TC2, responsable de la forme démyélinisante autosomique récessive la plus fréquente des CMT, nommée CMT4C ou AR-CMTde-SH3TC2 et sur GDAP1 notamme

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Peters, Nick T. "RNA EDITING AND REGULATION OF DROSOPHILA 4f-rnp EXPRESSION BY sas-10 ANTISENSE READTHROUGH mRNA TRANSCRIPTS." Miami University / OhioLINK, 2003. http://rave.ohiolink.edu/etdc/view?acc_num=miami1059663673.

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LOMBARDI, Silvia. "Targeted molecular strategies for X-linked genetic disorders: the paradigmatic models of Fabry disease and Haemophilias." Doctoral thesis, Università degli studi di Ferrara, 2020. http://hdl.handle.net/11392/2478832.

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Il trattamento delle malattie genetiche, pur avendo notevolmente migliorato la qualità di vita dei pazienti, presenta spesso limiti dovuti, ad esempio, all'inaccessibilità del tessuto da trattare, alla breve emivita del farmaco, o alla difficoltà nel veicolare transgeni di grandi dimensioni. Scopo di questa tesi è stato di indagare tre approcci terapeutici alternativi per altrettante patologie genetiche, scelte come modelli paradigmatici. Nella prima parte della tesi è stata indagata l’induzione del readthrough nel contesto della malattia di Fabry, un disordine da accumulo lisosomiale dovuto

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Pandit, Madhuparna. "Stop codon readthrough of NNAT mRNA and its role in neuronal differentiation." Thesis, 2022. https://etd.iisc.ac.in/handle/2005/5961.

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Protein synthesis terminates at the first stop codon encountered by the ribosome. In stop codon readthrough, translation termination is suppressed, enabling the ribosomes to continue translation beyond the canonical stop codon upto a downstream in-frame stop codon resulting in a C-terminally extended polypeptide. Several cis- or trans-acting elements contribute to a programmed stop codon readthrough event. Evidence of stop codon readthrough and the functional significance of the readthrough isoforms have been reported for VEGFA, AGO1, AMD1, AQP4, LDH, MDH, MTCH2 and VDR. The first evidence of

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Book chapters on the topic "Readthrough molecule"

1

Pinto, Rui, Daniel Sobral, and Ana Rita Grosso. "Comprehensive Detection of Pseudogenes Transcribed by Readthrough." In Methods in Molecular Biology. Springer US, 2021. http://dx.doi.org/10.1007/978-1-0716-1503-4_6.

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Nedjma, Selma, and Fabrice Lejeune. "Screening Methods for NMD Inhibitors or Readthrough Activators." In Methods in Molecular Biology. Springer US, 2025. https://doi.org/10.1007/978-1-0716-4726-4_17.

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Hofhuis, Julia, Severin Dieterle, Rosemol George, Fabian Schueren, and Sven Thoms. "Dual Reporter Systems for the Analysis of Translational Readthrough in Mammals." In Methods in Molecular Biology. Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-6937-1_9.

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Torices, Leire, Caroline E. Nunes-Xavier, Janire Mingo, et al. "Induction of Translational Readthrough on Protein Tyrosine Phosphatases Targeted by Premature Termination Codon Mutations in Human Disease." In Methods in Molecular Biology. Springer US, 2023. http://dx.doi.org/10.1007/978-1-0716-3569-8_1.

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Conference papers on the topic "Readthrough molecule"

1

Wang, Y., J. Liu, C. Leng, et al. "Small Molecule Readthrough Compound GJ103 Effectively Blocks the Development of Heritable Pulmonary Arterial Hypertension in a Mouse Model." In American Thoracic Society 2023 International Conference, May 19-24, 2023 - Washington, DC. American Thoracic Society, 2023. http://dx.doi.org/10.1164/ajrccm-conference.2023.207.1_meetingabstracts.a6253.

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Denz, Christopher, Jeffrey Johannes, Yi Yao, et al. "Abstract B172: Identification of a novel RNA processing mechanism of intronic readthrough to a transcriptional stop leading to truncated transcript expression, including FANCI and ATM, upon CDK12 inhibition." In Abstracts: AACR-NCI-EORTC International Conference: Molecular Targets and Cancer Therapeutics; October 26-30, 2017; Philadelphia, PA. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1535-7163.targ-17-b172.

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