Keeling KM, Xue X, Gunn G, Bedwell DM (2014) Therapeutics based on stop codon readthrough. Annu Rev Genomics Hum Genet 15:371–394. https://doi.org/10.1146/annurev-genom-091212-153527
CAS Article PubMed PubMed Central Google Scholar
Zhouravleva G, Frolova L, Le Goff X, Le Guellec R, Inge-Vechtomov S, Kisselev L, Philippe M (1995) Termination of translation in eukaryotes is governed by two interacting polypeptide chain release factors, eRF1 and eRF3. EMBO J 14:4065–4072
Fearon K, McClendon V, Bonetti B, Bedwell DM (1994) Premature translation termination mutations are efficiently suppressed in a highly conserved region of yeast Ste6p, a member of the ATP-binding cassette (ABC) transporter family. J Biol Chem 269:17802–17808
Lee HL, Dougherty JP (2012) Pharmaceutical therapies to recode nonsense mutations in inherited diseases. Pharmacol Ther 136:227–266. https://doi.org/10.1016/j.pharmthera.2012.07.007
CAS Article PubMed Google Scholar
Peltz SW, Morsy M, Welch EM, Jacobson A (2013) Ataluren as an agent for therapeutic nonsense suppression. Annu Rev Med 64:407–425. https://doi.org/10.1146/annurev-med-120611-144851
CAS Article PubMed Google Scholar
Hutchin T, Cortopassi G (1994) Proposed molecular and cellular mechanism for aminoglycoside ototoxicity. Antimicrob Agents Chemother 38:2517–2520
Quiros Y, Vicente-Vicente L, Morales AI, Lopez-Novoa JM, Lopez-Hernandez FJ (2011) An integrative overview on the mechanisms underlying the renal tubular cytotoxicity of gentamicin. Toxicol Sci 119:245–256. https://doi.org/10.1093/toxsci/kfq267
CAS Article PubMed Google Scholar
Mingeot-Leclercq MP, Tulkens PM (1999) Aminoglycosides: nephrotoxicity. Antimicrob Agents Chemother 43:1003–1012
Shulman E, Belakhov V, Wei G, Kendall A, Meyron-Holtz EG, Ben-Shachar D, Schacht J, Baasov T (2014) Designer aminoglycosides that selectively inhibit cytoplasmic rather than mitochondrial ribosomes show decreased ototoxicity: a strategy for the treatment of genetic diseASES. J Biol Chem 289:2318–2330. https://doi.org/10.1074/jbc.M113.533588
CAS Article PubMed Google Scholar
Dagil R, O’Shea C, Nykjaer A, Bonvin AM, Kragelund BB (2013) Gentamicin binds to the megalin receptor as a competitive inhibitor using the common ligand binding motif of complement type repeats: insight from the NMR structure of the 10th complement type repeat domain alone and in complex with gentamicIN. J Biol Chem 288:4424–4435. https://doi.org/10.1074/jbc.M112.434159
CAS Article PubMed Google Scholar
Kandasamy J, Atia-Glikin D, Shulman E, Shapira K, Shavit M, Belakhov V, Baasov T (2012) Increased selectivity toward cytoplasmic versus mitochondrial ribosome confers improved efficiency of synthetic aminoglycosides in fixing damaged genes: a strategy for treatment of genetic diseases caused by nonsense mutations. J Med Chem 55:10630–10643. https://doi.org/10.1021/jm3012992
CAS Article PubMed PubMed Central Google Scholar
Guthrie OW (2008) Aminoglycoside induced ototoxicity. Toxicology 249:91–96. https://doi.org/10.1016/j.tox.2008.04.015
CAS Article PubMed Google Scholar
Mingeot-Leclercq MP, Piret J, Brasseur R, Tulkens PM (1990) Effect of acidic phospholipids on the activity of lysosomal phospholipases and on their inhibition by aminoglycoside antibiotics–I. Biochem Anal Biochem Pharmacol 40:489–497
Welch EM, Barton ER, Zhuo J, Tomizawa Y, Friesen WJ, Trifillis P, Paushkin S, Patel M, Trotta CR, Hwang S et al (2007) PTC124 targets genetic disorders caused by nonsense mutations. Nature 447:87–91. https://doi.org/10.1038/nature05756
Hirawat S, Welch EM, Elfring GL, Northcutt VJ, Paushkin S, Hwang S, Leonard EM, Almstead NG, Ju W, Peltz SW et al (2007) Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. J Clin Pharmacol 47:430–444
Hirawat S, Northcutt VJ, Welch EM, Elfring GL, Hwang S, Almstead NG, Ju W, Miller LL (2004) Phase 1 safety and PK study of PTC124 for nonsense-mutation suppression therapy of cystic fibrosis. Pediatr Pulmonol 38:248
Roy B, Friesen WJ, Tomizawa Y, Leszyk JD, Zhuo J, Johnson B, Dakka J, Trotta CR, Xue X, Mutyam V et al (2016) Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression. Proc Natl Acad Sci U S A 113:12508–12513. https://doi.org/10.1073/pnas.1605336113
CAS Article PubMed PubMed Central Google Scholar
Kerem E, Konstan MW, De Boeck K, Accurso FJ, Sermet-Gaudelus I, Wilschanski M, Elborn JS, Melotti P, Bronsveld I, Fajac I et al (2014) Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial. Lancet Respir Med 2:539–547. https://doi.org/10.1016/S2213-2600(14)70100-6
CAS Article PubMed Google Scholar
McElroy SP, Nomura T, Torrie LS, Warbrick E, Gartner U, Wood G, McLean WHI (2013) A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays. PLoS Biol 11:e1001593
Keeling KM, Wang D, Dai Y, Murugesan S, Chenna B, Clark J, Belakhov V, Kandasamy J, Velu SE, Baasov T et al (2013) Attenuation of nonsense-mediated mRNA decay enhances in vivo nonsense suppression. PLoS ONE 8:e60478. https://doi.org/10.1371/journal.pone.0060478
CAS Article PubMed PubMed Central Google Scholar
Wang D, Belakhov V, Kandasamy J, Baasov T, Li SC, Li YT, Bedwell DM, Keeling KM (2012) The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse. Mol Genet Metab 105:116–125. https://doi.org/10.1016/j.ymgme.2011.10.005
CAS Article PubMed Google Scholar
Gunn G, Dai Y, Du M, Belakhov V, Kandasamy J, Schoeb TR, Baasov T, Bedwell DM, Keeling KM (2013) Long-term nonsense suppression therapy moderates MPS I-H disease progression. Mol Genet Metab 111:374–381. https://doi.org/10.1016/j.ymgme.2013.12.007
CAS Article PubMed PubMed Central Google Scholar
Auld DS, Lovell S, Thorne N, Lea WA, Maloney DJ, Shen M, Rai G, Battaile KP, Thomas CJ, Simeonov A et al (2010) Molecular basis for the high-affinity binding and stabilization of firefly luciferase by PTC124. Proc Natl Acad Sci U S A 107:4878–4883. https://doi.org/10.1073/pnas.0909141107
Article PubMed PubMed Central Google Scholar
Auld DS, Thorne N, Maguire WF, Inglese J (2009) Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression. Proc Natl Acad Sci U S A 106:3585–3590. https://doi.org/10.1073/pnas.0813345106
Article PubMed PubMed Central Google Scholar
Peltz SW, Welch EM, Trotta CR, Davis T, Jacobson A (2009) Targeting post-transcriptional control for drug discovery. RNA Biol 6:329–334
Inglese J, Thorne N, Auld DS (2009) Reply to Peltz et al: Post-translational stabilization of the firefly luciferase reporter by PTC124 (Ataluren). Proc Natl Acad Sci U S A 106: E65
Hall MP, Unch J, Binkowski BF, Valley MP, Butler BL, Wood MG, Otto P, Zimmerman K, Vidugiris G, Machleidt T et al (2012) Engineered luciferase reporter from a deep sea shrimp utilizing a novel imidazopyrazinone substrate. ACS Chem Biol 7:1848–1857. https://doi.org/10.1021/cb3002478
CAS Article PubMed PubMed Central Google Scholar
Peltz SW, Welch EM, Jacobson A, Trotta CR, Naryshkin N, Sweeney HL, Bedwell DM (2009) Nonsense suppression activity of PTC124 (ataluren). Proc Natl Acad Sci U S A 106(25):E64. https://doi.org/10.1073/pnas.0901936106
CAS Article PubMed PubMed Central Google Scholar
Sharma J, Du M, Wong E, Mutyam V, Li Y, Chen J, Wangen J, Thrasher K, Fu L, Peng N et al (2021) A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion. Nat Commun 12:4358. https://doi.org/10.1038/s41467-021-24575-x
CAS Article PubMed PubMed Central Google Scholar
Bedwell DM, Kaenjak A, Benos DJ, Bebok Z, Bubien JK, Hong J, Tousson A, Clancy JP, Sorscher EJ (1997) Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line. Nat Med 3:1280–1284
Howard M, Frizzell RA, Bedwell DM (1996) Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 2:467–469
Barton-Davis ER, Cordier L, Shoturma DI, Leland SE, Sweeney HL (1999) Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 104:375–381
Gonzalez-Hilarion S, Beghyn T, Jia J, Debreuck N, Berte G, Mamchaoui K, Mouly V, Gruenert DC, Deprez B, Lejeune F (2012) Rescue of nonsense mutations by amlexanox in human cells. Orphanet J Rare Dis 7:1–14. https://doi.org/10.1186/1750-1172-7-58
Nudelman I, Glikin D, Smolkin B, Hainrichson M, Belakhov V, Baasov T (2010) Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations. Bioorg Med Chem 18:3735–3746. https://doi.org/10.1016/j.bmc.2010.03.060
CAS Article PubMed Google Scholar
Wang D, Shukla C, Liu X, Schoeb TR, Clarke LA, Bedwell DM, Keeling KM (2010) Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation. Mol Genet Metab 99:62–71. https://doi.org/10.1016/j.ymgme.2009.08.002
CAS Article PubMed PubMed Central Google Scholar
Du M, Liu X, Welch EM, Hirawat S, Peltz SW, Bedwell DM (2008) PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model. Proc Natl Acad Sci U S A 105:2064–2069
Bolze F, Mocek S, Zimmermann A, Klingenspor M (2017) Aminoglycosides, but not PTC124 (Ataluren), rescue nonsense mutations in the leptin receptor and in luciferase reporter genes. Sci Rep 7:1020. https://doi.org/10.1038/s41598-017-01093-9
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