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Artykuły w czasopismach na temat „Readthrough molecule”

Autor: Grafiati

Data publikacji: 30 listopada 2024

Data aktualizacji: 31 lipca 2025

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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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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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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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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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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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6

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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8

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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9

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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10

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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11

Peh, J., T. Miyauchi, M. Takeda, S. Suzuki, H. Ujiie, and T. Nomura. "172 Discovery of small molecule compounds with readthrough potency at premature termination codon." Journal of Investigative Dermatology 141, no. 10 (2021): S177. http://dx.doi.org/10.1016/j.jid.2021.08.176.

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12

Bhattacharya, Arpan, Mikel D. Ghelfi, Xiaonan Cui, et al. "Translational readthrough-inducing drug (TRID) effects on eukaryotic termination investigated at the single-molecule level." Biophysical Journal 122, no. 3 (2023): 490a. http://dx.doi.org/10.1016/j.bpj.2022.11.2618.

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13

Roy, Bijoyita, Westley J. Friesen, Yuki Tomizawa, et al. "Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression." Proceedings of the National Academy of Sciences 113, no. 44 (2016): 12508–13. http://dx.doi.org/10.1073/pnas.1605336113.

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A premature termination codon (PTC) in the ORF of an mRNA generally leads to production of a truncated polypeptide, accelerated degradation of the mRNA, and depression of overall mRNA expression. Accordingly, nonsense mutations cause some of the most severe forms of inherited disorders. The small-molecule drug ataluren promotes therapeutic nonsense suppression and has been thought to mediate the insertion of near-cognate tRNAs at PTCs. However, direct evidence for this activity has been lacking. Here, we expressed multiple nonsense mutation reporters in human cells and yeast and identified the

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14

Friesen, Westley J., Briana Johnson, Jairo Sierra, et al. "The minor gentamicin complex component, X2, is a potent premature stop codon readthrough molecule with therapeutic potential." PLOS ONE 13, no. 10 (2018): e0206158. http://dx.doi.org/10.1371/journal.pone.0206158.

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Dmitriev, S. E., D. O. Vladimirov, and K. A. Lashkevich. "A Quick Guide to Small-Molecule Inhibitors of Eukaryotic Protein Synthesis." Biochemistry (Moscow) 85, no. 11 (2020): 1389–421. http://dx.doi.org/10.1134/s0006297920110097.

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Abstract Eukaryotic ribosome and cap-dependent translation are attractive targets in the antitumor, antiviral, anti-inflammatory, and antiparasitic therapies. Currently, a broad array of small-molecule drugs is known that specifically inhibit protein synthesis in eukaryotic cells. Many of them are well-studied ribosome-targeting antibiotics that block translocation, the peptidyl transferase center or the polypeptide exit tunnel, modulate the binding of translation machinery components to the ribosome, and induce miscoding, premature termination or stop codon readthrough. Such inhibitors are wi

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Baradaran-Heravi, Alireza, Claudia C. Bauer, Isabelle B. Pickles, et al. "Nonselective TRPC channel inhibition and suppression of aminoglycoside-induced premature termination codon readthrough by the small molecule AC1903." Journal of Biological Chemistry 298, no. 2 (2022): 101546. http://dx.doi.org/10.1016/j.jbc.2021.101546.

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Blanco-Luquin, Idoia, Blanca Acha, Amaya Urdánoz-Casado, et al. "NXN Gene Epigenetic Changes in an Adult Neurogenesis Model of Alzheimer’s Disease." Cells 11, no. 7 (2022): 1069. http://dx.doi.org/10.3390/cells11071069.

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In view of the proven link between adult hippocampal neurogenesis (AHN) and learning and memory impairment, we generated a straightforward adult neurogenesis in vitro model to recapitulate DNA methylation marks in the context of Alzheimer’s disease (AD). Neural progenitor cells (NPCs) were differentiated for 29 days and Aβ peptide 1–42 was added. mRNA expression of Neuronal Differentiation 1 (NEUROD1), Neural Cell Adhesion Molecule 1 (NCAM1), Tubulin Beta 3 Class III (TUBB3), RNA Binding Fox-1 Homolog 3 (RBFOX3), Calbindin 1 (CALB1), and Glial Fibrillary Acidic Protein (GFAP) was determined by

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Gemmati, Donato, Elisabetta D’Aversa, Bianca Antonica, et al. "Gene Dosage of F5 c.3481C>T Stop-Codon (p.R1161Ter) Switches the Clinical Phenotype from Severe Thrombosis to Recurrent Haemorrhage: Novel Hypotheses for Readthrough Strategy." Genes 15, no. 4 (2024): 432. http://dx.doi.org/10.3390/genes15040432.

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Inherited defects in the genes of blood coagulation essentially express the severity of the clinical phenotype that is directly correlated to the number of mutated alleles of the candidate leader gene (e.g., heterozygote vs. homozygote) and of possible additional coinherited traits. The F5 gene, which codes for coagulation factor V (FV), plays a two-faced role in the coagulation cascade, exhibiting both procoagulant and anticoagulant functions. Thus, defects in this gene can be predisposed to either bleeding or thrombosis. A Sanger sequence analysis detected a premature stop-codon in exon 13 o

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Murru, S., G. Loudianos, M. Deiana, et al. "Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations." Blood 77, no. 6 (1991): 1342–47. http://dx.doi.org/10.1182/blood.v77.6.1342.1342.

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Abstract In this study, we have defined by dot-blot analysis with allelic specific oligonucleotide probes or direct sequencing on amplified DNA the beta-thalassemia mutations in a large group of patients (23) of Italian descent with thalassemia intermedia. These patients had one parent with either the silent beta-thalassemia carrier phenotype or borderline-normal hemoglobin A2 (HbA2) levels (2.5% to 3.5%). Nearly all were genetic compounds for a severe beta-thalassemia mutation and a beta-thalassemia mutation associated with high residual output of beta- globin chains (beta + intervening seque

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Murru, S., G. Loudianos, M. Deiana, et al. "Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations." Blood 77, no. 6 (1991): 1342–47. http://dx.doi.org/10.1182/blood.v77.6.1342.bloodjournal7761342.

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In this study, we have defined by dot-blot analysis with allelic specific oligonucleotide probes or direct sequencing on amplified DNA the beta-thalassemia mutations in a large group of patients (23) of Italian descent with thalassemia intermedia. These patients had one parent with either the silent beta-thalassemia carrier phenotype or borderline-normal hemoglobin A2 (HbA2) levels (2.5% to 3.5%). Nearly all were genetic compounds for a severe beta-thalassemia mutation and a beta-thalassemia mutation associated with high residual output of beta- globin chains (beta + intervening sequence [IVS]

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Lombardi, Silvia, Maria Francesca Testa, Mirko Pinotti, and Alessio Branchini. "Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches." International Journal of Molecular Sciences 21, no. 24 (2020): 9449. http://dx.doi.org/10.3390/ijms21249449.

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The fidelity of protein synthesis, a process shaped by several mechanisms involving specialized ribosome regions and external factors, ensures the precise reading of sense and stop codons. However, premature termination codons (PTCs) arising from mutations may, at low frequency, be misrecognized and result in PTC suppression, named ribosome readthrough, with production of full-length proteins through the insertion of a subset of amino acids. Since some drugs have been identified as readthrough inducers, this fidelity drawback has been explored as a therapeutic approach in several models of hum

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Borgatti, Monica, Emiliano Altamura, Francesca Salvatori, Elisabetta D’Aversa та Nicola Altamura. "Screening Readthrough Compounds to Suppress Nonsense Mutations: Possible Application to β-Thalassemia". Journal of Clinical Medicine 9, № 2 (2020): 289. http://dx.doi.org/10.3390/jcm9020289.

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Several types of thalassemia (including β039-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. Drugs (for instance, aminoglycosides) can be designed to suppress premature translation termination by inducing readthrough (or nonsense suppression) at the premature termination codon. These findings have introduced new hopes for the development of a pharmacologic approach to cure this genetic disease. In the present review, we first summarize the pr

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Wittenstein, Amnon, Michal Caspi, Ido Rippin, et al. "Nonsense mutation suppression is enhanced by targeting different stages of the protein synthesis process." PLOS Biology 21, no. 11 (2023): e3002355. http://dx.doi.org/10.1371/journal.pbio.3002355.

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The introduction of premature termination codons (PTCs), as a result of splicing defects, insertions, deletions, or point mutations (also termed nonsense mutations), lead to numerous genetic diseases, ranging from rare neuro-metabolic disorders to relatively common inheritable cancer syndromes and muscular dystrophies. Over the years, a large number of studies have demonstrated that certain antibiotics and other synthetic molecules can act as PTC suppressors by inducing readthrough of nonsense mutations, thereby restoring the expression of full-length proteins. Unfortunately, most PTC readthro

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Chkuaseli, Tamari, and K. Andrew White. "Complex and simple translational readthrough signals in pea enation mosaic virus 1 and potato Leafroll virus, respectively." PLOS Pathogens 18, no. 9 (2022): e1010888. http://dx.doi.org/10.1371/journal.ppat.1010888.

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Different essential viral proteins are translated via programmed stop codon readthrough. Pea enation mosaic virus 1 (PEMV1) and potato leafroll virus (PLRV) are related positive-sense RNA plant viruses in the family Solemoviridae, and are type members of the Enamovirus and Polerovirus genera, respectively. Both use translational readthrough to express a C-terminally extended minor capsid protein (CP), termed CP-readthrough domain (CP-RTD), from a viral subgenomic mRNA that is transcribed during infections. Limited incorporation of CP-RTD subunits into virus particles is essential for aphid tra

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Pibiri, Ivana, Raffaella Melfi, Marco Tutone, Aldo Di Leonardo, Andrea Pace, and Laura Lentini. "Targeting Nonsense: Optimization of 1,2,4-Oxadiazole TRIDs to Rescue CFTR Expression and Functionality in Cystic Fibrosis Cell Model Systems." International Journal of Molecular Sciences 21, no. 17 (2020): 6420. http://dx.doi.org/10.3390/ijms21176420.

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Cystic fibrosis (CF) patients develop a severe form of the disease when the cystic fibrosis transmembrane conductance regulator (CFTR) gene is affected by nonsense mutations. Nonsense mutations are responsible for the presence of a premature termination codon (PTC) in the mRNA, creating a lack of functional protein. In this context, translational readthrough-inducing drugs (TRIDs) represent a promising approach to correct the basic defect caused by PTCs. By using computational optimization and biological screening, we identified three new small molecules showing high readthrough activity. The

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Baradaran-Heravi, Alireza, Jürgen Niesser, Aruna D. Balgi, et al. "Gentamicin B1 is a minor gentamicin component with major nonsense mutation suppression activity." Proceedings of the National Academy of Sciences 114, no. 13 (2017): 3479–84. http://dx.doi.org/10.1073/pnas.1620982114.

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Nonsense mutations underlie about 10% of rare genetic disease cases. They introduce a premature termination codon (PTC) and prevent the formation of full-length protein. Pharmaceutical gentamicin, a mixture of several related aminoglycosides, is a frequently used antibiotic in humans that can induce PTC readthrough and suppress nonsense mutations at high concentrations. However, testing of gentamicin in clinical trials has shown that safe doses of this drug produce weak and variable readthrough activity that is insufficient for use as therapy. In this study we show that the major components of

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Benslimane, Nesrine, Federica Miressi, Camille Loret, et al. "Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot–Marie–Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in GDAP1 Gene." Pharmaceuticals 16, no. 7 (2023): 1034. http://dx.doi.org/10.3390/ph16071034.

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Nonsense mutations are involved in multiple peripheral neuropathies. These mutations induce the presence of a premature termination codon (PTC) at the mRNA level. As a result, a dysfunctional or truncated protein is synthesized, or even absent linked to nonsense-mediated mRNA degradation (NMD) system activation. Readthrough molecules or NMD inhibitors could be innovative therapies in these hereditary neuropathies, particularly molecules harboring the dual activity as amlexanox. Charcot–Marie–Tooth (CMT) is the most common inherited pathology of the peripheral nervous system, affecting 1 in 250

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Schilff, Mirco, Yelena Sargsyan, Julia Hofhuis, and Sven Thoms. "Stop Codon Context-Specific Induction of Translational Readthrough." Biomolecules 11, no. 7 (2021): 1006. http://dx.doi.org/10.3390/biom11071006.

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Premature termination codon (PTC) mutations account for approximately 10% of pathogenic variants in monogenic diseases. Stimulation of translational readthrough, also known as stop codon suppression, using translational readthrough-inducing drugs (TRIDs) may serve as a possible therapeutic strategy for the treatment of genetic PTC diseases. One important parameter governing readthrough is the stop codon context (SCC)—the stop codon itself and the nucleotides in the vicinity of the stop codon on the mRNA. However, the quantitative influence of the SCC on treatment outcome and on appropriate dru

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Inaoka, Takashi, Koji Kasai, and Kozo Ochi. "Construction of an In Vivo Nonsense Readthrough Assay System and Functional Analysis of Ribosomal Proteins S12, S4, and S5 in Bacillus subtilis." Journal of Bacteriology 183, no. 17 (2001): 4958–63. http://dx.doi.org/10.1128/jb.183.17.4958-4963.2001.

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ABSTRACT To investigate the function of ribosomal proteins and translational factors in Bacillus subtilis, we developed an in vivo assay system to measure the level of nonsense readthrough by utilizing the LacZ-LacI system. Using the in vivo nonsense readthrough assay system which we developed, together with an in vitro poly(U)-directed cell-free translation assay system, we compared the processibility and translational accuracy of mutant ribosomes with those of the wild-type ribosome. Like Escherichia coli mutants, most S12 mutants exhibited lower frequencies of both UGA readthrough and misse

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Yesmin, Farhana, Robiul H. Bhuiyan, Yuhsuke Ohmi, et al. "Aminoglycosides are efficient reagents to induce readthrough of premature termination codon in mutant B4GALNT1 genes found in families of hereditary spastic paraplegia." Journal of Biochemistry 168, no. 2 (2020): 103–12. http://dx.doi.org/10.1093/jb/mvaa041.

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Abstract The readthrough of premature termination codon (PTC) by ribosome sometimes produces full-length proteins. We previously reported a readthrough of PTC of glycosyltransferase gene B4GALNT1 with hereditary spastic paraplegia (HSP). Here we featured the readthrough of B4GALNT1 of two mutants, M4 and M2 with PTC by immunoblotting and flow cytometry after transfection of B4GALNT1 cDNAs into cells. Immunoblotting showed a faint band of full-length mutant protein of M4 but not M2 at a similar position with that of wild-type B4GALNT1. AGC sequences at immediately before and after the PTC in M4

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Carollo, Pietro Salvatore, Marco Tutone, Giulia Culletta, et al. "Investigating the Inhibition of FTSJ1, a Tryptophan tRNA-Specific 2′-O-Methyltransferase by NV TRIDs, as a Mechanism of Readthrough in Nonsense Mutated CFTR." International Journal of Molecular Sciences 24, no. 11 (2023): 9609. http://dx.doi.org/10.3390/ijms24119609.

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Cystic Fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene, coding for the CFTR chloride channel. About 10% of the CFTR gene mutations are “stop” mutations that generate a premature termination codon (PTC), thus synthesizing a truncated CFTR protein. A way to bypass PTC relies on ribosome readthrough, which is the ribosome’s capacity to skip a PTC, thus generating a full-length protein. “TRIDs” are molecules exerting ribosome readthrough; for some, the mechanism of action is still under debate. We investigate a possible mechanism of action (MOA) by whic

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Li, Shan, Juan Li, Wenjing Shi, et al. "Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development." Biomolecules 13, no. 6 (2023): 988. http://dx.doi.org/10.3390/biom13060988.

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Around 11% of all known gene lesions causing human genetic diseases are nonsense mutations that introduce a premature stop codon (PTC) into the protein-coding gene sequence. Drug-induced PTC readthrough is a promising therapeutic strategy for treating hereditary diseases caused by nonsense mutations. To date, it has been found that more than 50 small-molecular compounds can promote PTC readthrough, known as translational readthrough-inducing drugs (TRIDs), and can be divided into two major categories: aminoglycosides and non-aminoglycosides. This review summarizes the pharmacodynamics and clin

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Du, Liutao, Robert Damoiseaux, Shareef Nahas, et al. "Nonaminoglycoside compounds induce readthrough of nonsense mutations." Journal of Experimental Medicine 206, no. 10 (2009): 2285–97. http://dx.doi.org/10.1084/jem.20081940.

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Large numbers of genetic disorders are caused by nonsense mutations for which compound-induced readthrough of premature termination codons (PTCs) might be exploited as a potential treatment strategy. We have successfully developed a sensitive and quantitative high-throughput screening (HTS) assay, protein transcription/translation (PTT)–enzyme-linked immunosorbent assay (ELISA), for identifying novel PTC-readthrough compounds using ataxia-telangiectasia (A-T) as a genetic disease model. This HTS PTT-ELISA assay is based on a coupled PTT that uses plasmid templates containing prototypic A-T mut

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Mangkalaphiban, Kotchaphorn, Feng He, Robin Ganesan, Chan Wu, Richard Baker, and Allan Jacobson. "Transcriptome-wide investigation of stop codon readthrough in Saccharomyces cerevisiae." PLOS Genetics 17, no. 4 (2021): e1009538. http://dx.doi.org/10.1371/journal.pgen.1009538.

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Translation of mRNA into a polypeptide is terminated when the release factor eRF1 recognizes a UAA, UAG, or UGA stop codon in the ribosomal A site and stimulates nascent peptide release. However, stop codon readthrough can occur when a near-cognate tRNA outcompetes eRF1 in decoding the stop codon, resulting in the continuation of the elongation phase of protein synthesis. At the end of a conventional mRNA coding region, readthrough allows translation into the mRNA 3’-UTR. Previous studies with reporter systems have shown that the efficiency of termination or readthrough is modulated by cis-act

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McHugh, Daniel R., Calvin U. Cotton, and Craig A. Hodges. "Synergy between Readthrough and Nonsense Mediated Decay Inhibition in a Murine Model of Cystic Fibrosis Nonsense Mutations." International Journal of Molecular Sciences 22, no. 1 (2020): 344. http://dx.doi.org/10.3390/ijms22010344.

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Many heritable genetic disorders arise from nonsense mutations, which generate premature termination codons (PTCs) in transcribed mRNA. PTCs ablate protein synthesis by prematurely terminating the translation of mutant mRNA, as well as reducing mutant mRNA quantity through targeted degradation by nonsense-mediated decay (NMD) mechanisms. Therapeutic strategies for nonsense mutations include facilitating ribosomal readthrough of the PTC and/or inhibiting NMD to restore protein function. However, the efficacy of combining readthrough agents and NMD inhibitors has not been thoroughly explored. In

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Chan, Clara S., Irwin Jungreis, and Manolis Kellis. "Heterologous Stop Codon Readthrough of Metazoan Readthrough Candidates in Yeast." PLoS ONE 8, no. 3 (2013): e59450. http://dx.doi.org/10.1371/journal.pone.0059450.

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Belitsky, Boris R., Hyun-Jin Kim, and Abraham L. Sonenshein. "CcpA-Dependent Regulation of Bacillus subtilis Glutamate Dehydrogenase Gene Expression." Journal of Bacteriology 186, no. 11 (2004): 3392–98. http://dx.doi.org/10.1128/jb.186.11.3392-3398.2004.

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ABSTRACT The Bacillus subtilis rocG gene, encoding catabolic glutamate dehydrogenase, was found to be subject to direct CcpA-dependent glucose repression. The effect of CcpA required the presence of both the HPr and Crh proteins. The primary CcpA binding site was identified by mutational analysis and DNase I footprinting. In the absence of inducers of the Roc pathway, rocG was still expressed at a low level due to readthrough transcription. CcpA-dependent repression of rocG readthrough transcription proved to contribute to the slow growth rate of B. subtilis cells in glucose-glutamate medium.

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Moss, Tom, Anne-Marie Larose, Keith Mitchelson, and Benoît Leblanc. "Readthrough enhancement and promoter occlusion on the ribosomal genes of Xenopus laevis." Biochemistry and Cell Biology 70, no. 5 (1992): 324–31. http://dx.doi.org/10.1139/o92-050.

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An RNA polymerase I termination site is found just upstream of the ribosomal gene promoter in mammals and amphibia. It has been suggested that this termination site may actively enhance ribosomal transcription in a process known as readthrough enhancement or that it may simply prevent the disruption of initiation complexes or promoter occlusion. There is, however, a consensus of opinion that the terminator is important for efficient ribosomal transcription. Here we have quantitatively investigated the relative importance of readthrough enhancement and promoter occlusion on the transcription of

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Dabrowski, Maciej, Zuzanna Bukowy-Bieryllo, Claire L. Jackson, and Ewa Zietkiewicz. "Properties of Non-Aminoglycoside Compounds Used to Stimulate Translational Readthrough of PTC Mutations in Primary Ciliary Dyskinesia." International Journal of Molecular Sciences 22, no. 9 (2021): 4923. http://dx.doi.org/10.3390/ijms22094923.

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Primary ciliary dyskinesia (PCD) is a rare disease with autosomal recessive inheritance, caused mostly by bi-allelic gene mutations that impair motile cilia structure and function. Currently, there are no causal treatments for PCD. In many disease models, translational readthrough of premature termination codons (PTC-readthrough) induced by aminoglycosides has been proposed as an effective way of restoring functional protein expression and reducing disease symptoms. However, variable outcomes of pre-clinical trials and toxicity associated with long-term use of aminoglycosides prompt the search

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Kosinski, Luke J., and Joanna Masel. "Readthrough Errors Purge Deleterious Cryptic Sequences, Facilitating the Birth of Coding Sequences." Molecular Biology and Evolution 37, no. 6 (2020): 1761–74. http://dx.doi.org/10.1093/molbev/msaa046.

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Abstract De novo protein-coding innovations sometimes emerge from ancestrally noncoding DNA, despite the expectation that translating random sequences is overwhelmingly likely to be deleterious. The “preadapting selection” hypothesis claims that emergence is facilitated by prior, low-level translation of noncoding sequences via molecular errors. It predicts that selection on polypeptides translated only in error is strong enough to matter and is strongest when erroneous expression is high. To test this hypothesis, we examined noncoding sequences located downstream of stop codons (i.e., those p

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Temaj, Gazmend, Pelin Telkoparan-Akillilar, Nexhibe Nuhii, Silvia Chichiarelli, Sarmistha Saha, and Luciano Saso. "Recoding of Nonsense Mutation as a Pharmacological Strategy." Biomedicines 11, no. 3 (2023): 659. http://dx.doi.org/10.3390/biomedicines11030659.

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Approximately 11% of genetic human diseases are caused by nonsense mutations that introduce a premature termination codon (PTC) into the coding sequence. The PTC results in the production of a potentially harmful shortened polypeptide and activation of a nonsense-mediated decay (NMD) pathway. The NMD pathway reduces the burden of unproductive protein synthesis by lowering the level of PTC mRNA. There is an endogenous rescue mechanism that produces a full-length protein from a PTC mRNA. Nonsense suppression therapies aim to increase readthrough, suppress NMD, or are a combination of both strate

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Gao, Shenglan, Ziying Lin, Chunyan Li, et al. "lncINS-IGF2 Promotes Cell Proliferation and Migration by Promoting G1/S Transition in Lung Cancer." Technology in Cancer Research & Treatment 18 (January 1, 2019): 153303381882302. http://dx.doi.org/10.1177/1533033818823029.

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Long noncoding RNAs are capable of regulating gene expression at multiple levels. These RNA molecules are also involved in a variety of physiological and pathological processes. Emerging data demonstrate that a series of differentially expressed long noncoding RNAs are implicated in tumorigenesis. In the present study, we used microarray analysis to identify long noncoding RNAs that are dysregulated in non-small-cell lung cancer when compared to normal lung tissues. Accordingly, we performed quantitative real-time polymerase chain reaction to analyze the levels of long noncoding RNA and the ci

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Bralley, Patricia, and George H. Jones. "Organization and Expression of the Polynucleotide Phosphorylase Gene (pnp) of Streptomyces: Processing of pnp Transcripts in Streptomyces antibioticus." Journal of Bacteriology 186, no. 10 (2004): 3160–72. http://dx.doi.org/10.1128/jb.186.10.3160-3172.2004.

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ABSTRACT We have examined the expression of pnp encoding the 3′-5′-exoribonuclease, polynucleotide phosphorylase, in Streptomyces antibioticus. We show that the rpsO-pnp operon is transcribed from at least two promoters, the first producing a readthrough transcript that includes both pnp and the gene for ribosomal protein S15 (rpsO) and a second, Ppnp, located in the rpsO-pnp intergenic region. Unlike the situation in Escherichia coli, where observation of the readthrough transcript requires mutants lacking RNase III, we detect readthrough transcripts in wild-type S. antibioticus mycelia. The

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Ranjitkar, S., M. Siri, J. Sun, G. Liu, and X. Tian. "117 Transcription readthrough in." Reproduction, Fertility and Development 35, no. 2 (2022): 185–86. http://dx.doi.org/10.1071/rdv35n2ab117.

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Baradaran-Heravi, Alireza, Aruna D. Balgi, Carla Zimmerman, et al. "Novel small molecules potentiate premature termination codon readthrough by aminoglycosides." Nucleic Acids Research 44, no. 14 (2016): 6583–98. http://dx.doi.org/10.1093/nar/gkw638.

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Morais, Pedro, Rui Zhang, and Yi-Tao Yu. "Therapeutic Nonsense Suppression Modalities: From Small Molecules to Nucleic Acid-Based Approaches." Biomedicines 12, no. 6 (2024): 1284. http://dx.doi.org/10.3390/biomedicines12061284.

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Nonsense mutations are genetic mutations that create premature termination codons (PTCs), leading to truncated, defective proteins in diseases such as cystic fibrosis, neurofibromatosis type 1, Dravet syndrome, Hurler syndrome, Beta thalassemia, inherited bone marrow failure syndromes, Duchenne muscular dystrophy, and even cancer. These mutations can also trigger a cellular surveillance mechanism known as nonsense-mediated mRNA decay (NMD) that degrades the PTC-containing mRNA. The activation of NMD can attenuate the consequences of truncated, defective, and potentially toxic proteins in the c

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Lowndes, N. F., P. Bushel, L. Mendelsohn, J. Wu, M. Y. Yen, and M. Allan. "A short, highly repetitive element in intron -1 of the human c-Ha-ras gene acts as a block to transcriptional readthrough by a viral promoter." Molecular and Cellular Biology 10, no. 9 (1990): 4990–95. http://dx.doi.org/10.1128/mcb.10.9.4990-4995.1990.

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We have identified a short, highly repetitive element within intron -1 of the human c-Ha-ras gene. This element was found to be transcribed in both orientations and to be homologous to heterogeneous nonpolyadenylated transcripts. The repetitive element blocked transcriptional readthrough from a strong upstream viral promoter but allowed unimpaired readthrough from the c-Has-ras promoter. We suggest that it may serve to prevent excessive transcription into the coding region of the gene under such circumstances as viral insertion.

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Ghelfi, Mikel D., Saleem Y. Bhat, Hong Li, and Barry S. Cooperman. "A High-Throughput Assay for In Vitro Determination of Release Factor-Dependent Peptide Release from a Pretermination Complex by Fluorescence Anisotropy—Application to Nonsense Suppressor Screening and Mechanistic Studies." Biomolecules 13, no. 2 (2023): 242. http://dx.doi.org/10.3390/biom13020242.

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Premature termination codons (PTCs) account for ~12% of all human disease mutations. Translation readthrough-inducing drugs (TRIDs) are prominent among the several therapeutic approaches being used to overcome PTCs. Ataluren is the only TRID that has been approved for treating patients suffering from a PTC disease, Duchenne muscular dystrophy, but it gives variable readthrough results in cells isolated from patients suffering from other PTC diseases. We recently elucidated ataluren’s mechanism of action as a competitive inhibitor of release factor complex (RFC) catalysis of premature terminati

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Yordanova, Martina M., Gary Loughran, John F. Atkins, and Pavel V. Baranov. "Stop codon readthrough contexts influence reporter expression differentially depending on the presence of an IRES." Wellcome Open Research 5 (January 31, 2022): 221. http://dx.doi.org/10.12688/wellcomeopenres.16231.3.

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Abstract Background: Previously we reported the discovery of stop codon readthrough in AMD1 mRNA followed by ribosome stalling at the end of a conserved Open Reading Frame (ORF) that we termed AMD1. To explain the severe suppression of reporters fused to AMD1 tail we proposed a mechanism invoking ribosome queueing. In the original study, we tested this hypothesis, by placing the reporter stop codon in the context of readthrough permissive sequences in a dual reporter vector with downstream reporter expression driven by the EMCV IRES. In accordance with our hypothesis, we observed a striking di

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Wong, Keit Men, Eike Wegener, Alireza Baradaran-Heravi, Brenda Huppke, Jutta Gärtner, and Peter Huppke. "Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome." International Journal of Molecular Sciences 24, no. 14 (2023): 11665. http://dx.doi.org/10.3390/ijms241411665.

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Rett syndrome (RTT), a severe X-linked neurodevelopmental disorder, is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). Over 35% RTT patients carry nonsense mutation in MECP2, making it a suitable candidate disease for nonsense suppression therapy. In our previous study, gentamicin was found to induce readthrough of MECP2 nonsense mutations with modest efficiency. Given the recent discovery of readthrough enhancers, CDX compounds, we herein evaluated the potentiation effect of CDX5-1, CDX5-288, and CDX6-180 on gentamicin-mediated readthrough efficiency in transfe

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