Therapeutics Based on Stop Codon Readthrough

One-step generation of mice carrying reporter and conditional alleles by CRISPR/Cas-mediated genome engineering

Yang, H., Wang, H., Shivalila, C. S., Cheng, A. W., Shi, L., & Jaenisch, R. (2013) · Cell · doi:10.1016/j.cell.2013.08.022 · Cited by 1,596 · see citing works

PTC124 targets genetic disorders caused by nonsense mutations

Welch, E. M., Barton, E. R., Zhuo, J., Tomizawa, Y., Friesen, W. J., Trifillis, P., Paushkin, S. V., Patel, M., Trotta, C. R., Hwang, S., et al. (2007) · Nature · doi:10.1038/nature05756 · Cited by 1,138 · see citing works

Circularization of mRNA by Eukaryotic Translation Initiation Factors

Wells, S. E., Hillner, P. E., Vale, R. D., & Sachs, A. B. (1998) · Molecular Cell · doi:10.1016/s1097-2765(00)80122-7 · Cited by 968 · see citing works

Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise

Mendell, J. T., Sharifi, N., Meyers, J. L., Martínez-Murillo, F., & Dietz, H. C. (2004) · Nature Genetics · doi:10.1038/ng1429 · Cited by 880 · see citing works

Universal rules and idiosyncratic features in tRNA identity

Giege, R., Sissler, M., & Florentz, C. (1998) · Nucleic Acids Research · doi:10.1093/nar/26.22.5017 · Cited by 769 · see citing works

Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

Barton-Davis, E. R., Cordier, L., Shoturma, D. I., Leland, S. E., & Sweeney, H. L. (1999) · Journal of Clinical Investigation · doi:10.1172/jci7866 · Cited by 579 · see citing works

A newly identified N‐terminal amino acid sequence of human eIF4G binds poly(A)‐binding protein and functions in poly(A)‐dependent translation

Imataka, H., Gradi, A., & Sonenberg, N. (1998) · The EMBO Journal · doi:10.1093/emboj/17.24.7480 · Cited by 572 · see citing works

A faux 3′-UTR promotes aberrant termination and triggers nonsense- mediated mRNA decay

Amrani, N., Ganesan, R., Kervestin, S., Mangus, D. A., Ghosh, S., & Jacobson, A. (2004) · Nature · doi:10.1038/nature03060 · Cited by 533 · see citing works

A meta-analysis of nonsense mutations causing human genetic disease

Mort, M. E., Ivanov, D. K., Cooper, D. N., & Chuzhanova, N. A. (2008) · Human Mutation · doi:10.1002/humu.20763 · Cited by 513 · see citing works

Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis and CFTR Stop Mutations

Wilschanski, M. A., Yahav, Y., Yaacov, Y., et al. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa022170 · Cited by 503 · see citing works

Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations

Howard, M., Frizzell, R. A., & Bedwell, D. M. (1996) · Nature Medicine · doi:10.1038/nm0496-467 · Cited by 495 · see citing works

An inhibitor of the protein kinases TBK1 and IKK-ɛ improves obesity-related metabolic dysfunctions in mice

Reilly, S. M., Chiang, S.-H., Decker, S. J., Chang, L. C., Uhm, M., Larsen, M. J., Rubin, J. R., Mowers, J. C., White, N. M. A., Hochberg, I., et al. (2013) · Nature Medicine · doi:10.1038/nm.3082 · Cited by 431 · see citing works

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

Khajavi, M., Inoue, K., & Lupski, J. R. (2006) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201649 · Cited by 420 · see citing works

Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system

Manuvakhova, M., Keeling, K. M., & Bedwell, D. M. (2000) · RNA · doi:10.1017/s1355838200000716 · Cited by 404 · see citing works

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

Kerem, E., Hirawat, S., Armoni, S., Yaakov, Y., Shoseyov, D., Cohen, M., Nissim‐Rafinia, M., Blau, H., Rivlin, J., Aviram, M., et al. (2008) · The Lancet · doi:10.1016/s0140-6736(08)61168-x · Cited by 401 · see citing works

Converting nonsense codons into sense codons by targeted pseudouridylation

Karijolich, J. J., & Yu, Y. (2011) · Nature · doi:10.1038/nature10165 · Cited by 391 · see citing works

Mechanisms of Aminoglycoside Ototoxicity and Targets of Hair Cell Protection

Huth, M. E., Ricci, A. J., & Cheng, A. G.-L. (2011) · International Journal of Otolaryngology · doi:10.1155/2011/937861 · Cited by 390 · see citing works

Nonsense-mediated mRNA decay — Mechanisms of substrate mRNA recognition and degradation in mammalian cells

Schweingruber, C., Rufener, S. C., Zünd, D., Yamashita, A., & Mühlemann, O. (2013) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2013.02.005 · Cited by 356 · see citing works

In Vitro Reconstitution of Eukaryotic Translation Reveals Cooperativity between Release Factors eRF1 and eRF3

Alkalaeva, E. Z., Pisarev, A. V., Frolova, L. Y., Kisselev, L. L., & Pestova, T. V. (2006) · Cell · doi:10.1016/j.cell.2006.04.035 · Cited by 331 · see citing works

Mechanisms of deadenylation‐dependent decay

Chen, C. A., & Shyu, A. (2010) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.40 · Cited by 330 · see citing works

Exon-Junction Complex Components Specify Distinct Routes of Nonsense-Mediated mRNA Decay with Differential Cofactor Requirements

Gehring, N. H., Kunz, J. B., Neu‐Yilik, G., Breit, S., Viegas, M. H., Hentze, M. W., & Kulozik, A. E. (2005) · Molecular Cell · doi:10.1016/j.molcel.2005.08.012 · Cited by 329 · see citing works

Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability

Medghalchi, S. M. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.2.99 · Cited by 316 · see citing works

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Potentiator VX-770 (Ivacaftor) Opens the Defective Channel Gate of Mutant CFTR in a Phosphorylation-dependent but ATP-independent Manner

Eckford, P. D. W., Li, C., Ramjeesingh, M., & Bear, C. E. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.393637 · Cited by 311 · see citing works

Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin

Linde, L., Boelz, S., Nissim‐Rafinia, M., et al. (2007) · Journal of Clinical Investigation · doi:10.1172/jci28523 · Cited by 300 · see citing works

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Tarpey, P. S., Raymond, F. L., Nguyen, L. S., Rodriguez, J. D., Hackett, A., Vandeleur, L., Smith, R., Shoubridge, C., Edkins, S., Stevens, C., et al. (2007) · Nature Genetics · doi:10.1038/ng2100 · Cited by 293 · see citing works

NMD is essential for hematopoietic stem and progenitor cells and for eliminating by-products of programmed DNA rearrangements

Weischenfeldt, J., Damgaard, I., Bryder, D., Theilgaard-Mönch, K., Thoren, L. A., Nielsen, F. C., Jacobsen, S. E. W., Nerlov, C., & Porse, B. T. (2008) · Genes & Development · doi:10.1101/gad.468808 · Cited by 288 · see citing works

Translational termination efficiency in mammals is influenced by the base following the stop codon

McCaughan, K. K., Brown, C. M., Dalphin, M. E., Berry, M. J., & Tate, W. P. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.12.5431 · Cited by 284 · see citing works

Gentamicin‐induced readthrough of stop codons in duchenne muscular dystrophy

Malik, V., Rodino‐Klapac, L. R., Viollet, L., Wall, C., King, W. M., Al‐Dahhak, R., Lewis, S., Shilling, C. J., Kota, J., Serrano, C., et al. (2010) · Annals of Neurology · doi:10.1002/ana.22024 · Cited by 280 · see citing works

PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR -G542X nonsense allele in a CF mouse model

Du, M., Liu, X., Welch, E. M., Hirawat, S., Peltz, S. W., & Bedwell, D. M. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0711795105 · Cited by 257 · see citing works

Evidence that Systemic Gentamicin Suppresses Premature Stop Mutations in Patients with Cystic Fibrosis

Clancy, J. P., Bebők, Z., Ruiz, F. E., et al. (2001) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/ajrccm.163.7.2004001 · Cited by 253 · see citing works

Ataluren (PTC124) Induces Cystic Fibrosis Transmembrane Conductance Regulator Protein Expression and Activity in Children with Nonsense Mutation Cystic Fibrosis

Sermet‐Gaudelus, I., Boeck, K. D., Casimir, G. J., Vermeulen, F. L., Leal, T., Mogenet, A., Roussel, D., Fritsch, J., Hanssens, L. S., Hirawat, S., et al. (2010) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201001-0137oc · Cited by 248 · see citing works

Safety, Tolerability, and Pharmacokinetics of PTC124, a Nonaminoglycoside Nonsense Mutation Suppressor, Following Single‐ and Multiple‐Dose Administration to Healthy Male and Female Adult Volunteers

Hirawat, S., Welch, E. M., Elfring, G. L., Northcutt, V. J., Paushkin, S. V., Hwang, S., Leonard, E. M., Almstead, N. G., Ju, W., Peltz, S. W., et al. (2007) · The Journal of Clinical Pharmacology · doi:10.1177/0091270006297140 · Cited by 243 · see citing works

Mechanism of aminoglycoside-induced lysosomal phospholipidosis: In vitro and in vivo studies with Gentamicin and Amikacin

Laurent, G., Carlier, M.-B., Rollman, B., et al. (1982) · Biochemical Pharmacology · doi:10.1016/0006-2952(82)90303-3 · Cited by 241 · see citing works

Phenotypic suppression of nonsense mutants in yeast by aminoglycoside antibiotics

PALMER, E., Wilhelm, J. M., & Sherman, F. (1979) · Nature · doi:10.1038/277148a0 · Cited by 236 · see citing works

An alternative branch of the nonsense‐mediated decay pathway

Chan, W.-K., Huang, L., Gudikote, J. P., Chang, Y.-F., Imam, J. S., MacLean, J. A., & Wilkinson, M. (2007) · The EMBO Journal · doi:10.1038/sj.emboj.7601628 · Cited by 222 · see citing works

Phase II studies of nebulised Arikace in CF patients withPseudomonas aeruginosainfection

Clancy, J. P., Dupont, L., Konstan, M. W., et al. (2013) · Thorax · doi:10.1136/thoraxjnl-2012-202230 · Cited by 222 · see citing works

NMD: RNA biology meets human genetic medicine

Bhuvanagiri, M., Schlitter, A. M., Hentze, M. W., & Kulozik, A. E. (2010) · Biochemical Journal · doi:10.1042/bj20100699 · Cited by 216 · see citing works

Prevention of noise- and drug-induced hearing loss with d-methionine

Campbell, K. C. M., Meech, R. P., Klemens, J. J., Gerberi, M. T., Dyrstad, S. W., Larsen, D. L., Mitchell, D. L., El-Azizi, M., Verhulst, S. J., & Hughes, L. F. (2007) · Hearing Research · doi:10.1016/j.heares.2006.11.012 · Cited by 212 · see citing works

Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression

Auld, D. S., Thorne, N., Maguire, W. F., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0813345106 · Cited by 208 · see citing works

Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis

Wilschanski, M. A., Miller, L. L., Shoseyov, D., Blau, H., Rivlin, J., Aviram, M., Cohen, M., Armoni, S., Yaakov, Y., Pugatsch, T., et al. (2011) · European Respiratory Journal · doi:10.1183/09031936.00120910 · Cited by 205 · see citing works

Current status of pharmaceutical and genetic therapeutic approaches to treat DMD.

Pichavant, C., Aartsma-Rus, A., Clemens, P., Davies, K., Dickson, G., Takeda, S., Wilton, S., Wolff, J., Wooddell, C., Xiao, X., et al. (2011) · Molecular Therapy · doi:10.1038/mt.2011.59 · Cited by 202 · see citing works

Basis for prokaryotic specificity of action of aminoglycoside antibiotics

Recht, M. I., Douthwaite, S. R., & Puglisi, J. D. (1999) · The EMBO Journal · doi:10.1093/emboj/18.11.3133 · Cited by 201 · see citing works

GTP Hydrolysis by eRF3 Facilitates Stop Codon Decoding during Eukaryotic Translation Termination

Salas-Marco, J., & Bedwell, D. M. (2004) · Molecular and Cellular Biology · doi:10.1128/mcb.24.17.7769-7778.2004 · Cited by 200 · see citing works

Smg1 is required for embryogenesis and regulates diverse genes via alternative splicing coupled to nonsense-mediated mRNA decay

McIlwain, D. R., Pan, Q., Reilly, P. T., Elia, A., McCracken, S. A., Wakeham, A. C., Itie-YouTen, A., Blencowe, B. J., & Mak, T. W. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1007336107 · Cited by 197 · see citing works

Ataluren as an Agent for Therapeutic Nonsense Suppression

Peltz, S. W., Morsy, M., Welch, E. M., & Jacobson, A. (2012) · Annual Review of Medicine · doi:10.1146/annurev-med-120611-144851 · Cited by 194 · see citing works

Development of Novel Aminoglycoside (NB54) with Reduced Toxicity and Enhanced Suppression of Disease-Causing Premature Stop Mutations

Nudelman, I., Rebibo-Sabbah, A., Cherniavsky, M., Белахов, В. В., Hainrichson, M., Chen, F., Schacht, J., Pilch, D. S., Ben‐Yosef, T., & Baasov, T. (2009) · Journal of Medicinal Chemistry · doi:10.1021/jm801640k · Cited by 190 · see citing works

Inhibition of nonsense-mediated mRNA decay (NMD) by a new chemical molecule reveals the dynamic of NMD factors in P-bodies

Durand, S., Cougot, N., Mahuteau‐Betzer, F., Nguyen, C.-H., Grierson, D. S., Bertrand, É., Tazi, J., & Lejeune, F. (2007) · The Journal of Cell Biology · doi:10.1083/jcb.200611086 · Cited by 189 · see citing works

Aminoglycoside suppression of a premature stop mutation in a Cftr–/– mouse carrying a human CFTR-G542X transgene

Du, M., Jones, J. R., Lanier, J., et al. (2002) · Journal of Molecular Medicine · doi:10.1007/s00109-002-0363-1 · Cited by 181 · see citing works

Cystic Fibrosis Transmembrane Regulator Correctors and PotentiatorsPreprint

Rowe, S. M., & Verkman, A. S. (2013) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a009761 · Cited by 176 · see citing works

Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses

Piotrowska, E., Jakóbkiewicz‐Banecka, J., Barańska, S., et al. (2006) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201623 · Cited by 175 · see citing works

Molecular basis for the high-affinity binding and stabilization of firefly luciferase by PTC124

Auld, D. S., Lovell, S., Thorne, N., Lea, W., Maloney, D. J., Shen, M., Rai, G., Battaile, K. P., Thomas, C. J., Simeonov, A. M., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0909141107 · Cited by 173 · see citing works

Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results.

Politano, L., Nigro, G., Nigro, V., et al. (2003) · PubMed · Cited by 171 · see citing works

Translation-dependent displacement of UPF1 from coding sequences causes its enrichment in 3′ UTRs

Zünd, D., Gruber, A. R., Zavolan, M., & Mühlemann, O. (2013) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.2635 · Cited by 171 · see citing works

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human

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Construction of a functional human suppressor tRNA gene: an approach to gene therapy for β-thalassaemia

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Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

Nguyen, L. S., Kim, H., Rosenfeld, J. A., Shen, Y., Gusella, J. F., Lacassie, Y., Layman, L. C., Shaffer, L. G., & Gécz, J. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt035 · Cited by 164 · see citing works

Liposome-encapsulated aminoglycosides in pre-clinical and clinical studies

Schiffelers, R. (2001) · Journal of Antimicrobial Chemotherapy · doi:10.1093/jac/48.3.333 · Cited by 163 · see citing works

Read-Through Strategies for Suppression of Nonsense Mutations in Duchenne/ Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124)

Finkel, R. S. (2010) · Journal of Child Neurology · doi:10.1177/0883073810371129 · Cited by 161 · see citing works

Rescue of nonsense mutations by amlexanox in human cells

Gonzalez-Hilarion, S., Beghyn, T. B., Jia, J., Debreuck, N., Berte, G., Mamchaoui, K., Mouly, V., Gruenert, D. C., Deprez, B. P., & Lejeune, F. (2012) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-7-58 · Cited by 159 · see citing works

Experimental Gentamicin Nephrotoxicity and Agents that Modify it: A Mini-Review of Recent Research

Ali, B. H., Za’abi, M. A., Blunden, G., & Nemmar, A. (2011) · Basic & Clinical Pharmacology & Toxicology · doi:10.1111/j.1742-7843.2011.00728.x · Cited by 150 · see citing works

Poly(A)-Binding Protein Acts in Translation Termination via Eukaryotic Release Factor 3 Interaction and Does Not Influence [ PSI + ] Propagation

Cosson, B., Couturier, A., Chabelskaya, S. V., Kiktev, D. A., Inge-Vechtomov, S. G., Philippe, M., & Zhouravleva, G. A. (2002) · Molecular and Cellular Biology · doi:10.1128/mcb.22.10.3301-3315.2002 · Cited by 150 · see citing works

UAG readthrough in mammalian cells: Effect of upstream and downstream stop codon contexts reveal different signals

Cassan, M., & Rousset, J. (2001) · BMC Molecular Biology · doi:10.1186/1471-2199-2-3 · Cited by 146 · see citing works

Comparison of EJC-enhanced and EJC-independent NMD in human cells reveals two partially redundant degradation pathways

Metze, S., Herzog, V. A., Ruepp, M., & Mühlemann, O. (2013) · RNA · doi:10.1261/rna.038893.113 · Cited by 141 · see citing works

Evolutionary optimization of speed and accuracy of decoding on the ribosome

Wohlgemuth, I., Pohl, C., Mittelstaet, J., Konevega, A. L., & Rodnina, M. V. (2011) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2011.0138 · Cited by 141 · see citing works

Nonaminoglycoside compounds induce readthrough of nonsense mutations

Du, L., Damoiseaux, R. D., Nahas, S., Gao, K., Hu, H., Pollard, J. M., Goldstine, J. V., Jung, M. E., Henning, S. M., Bertoni, C., et al. (2009) · The Journal of Experimental Medicine · doi:10.1084/jem.20081940 · Cited by 139 · see citing works

Pharmaceutical therapies to recode nonsense mutations in inherited diseases

Lee, H.-L. R., & Dougherty, J. P. (2012) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2012.07.007 · Cited by 138 · see citing works

A Lack of Premature Termination Codon Read-Through Efficacy of PTC124 (Ataluren) in a Diverse Array of Reporter Assays

McElroy, S. P., Nomura, T., Torrie, L. S., et al. (2013) · PLoS Biology · doi:10.1371/journal.pbio.1001593 · Cited by 138 · see citing works

A comprehensive analysis of translational missense errors in the yeast Saccharomyces cerevisiae

Kramer, E. B., Vallabhaneni, H., Mayer, L. M., & Farabaugh, P. J. (2010) · RNA · doi:10.1261/rna.2201210 · Cited by 134 · see citing works

Structural origins of aminoglycoside specificity for prokaryotic ribosomes

Lynch, S. R., & Puglisi, J. D. (2001) · Journal of Molecular Biology · doi:10.1006/jmbi.2000.4420 · Cited by 133 · see citing works

Repairing faulty genes by aminoglycosides: Development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations

Nudelman, I., Atia-Glikin, D., Smolkin, B., Hainrichson, M., Белахов, В. В., & Baasov, T. (2010) · Bioorganic & Medicinal Chemistry · doi:10.1016/j.bmc.2010.03.060 · Cited by 126 · see citing works

Polyaspartic Acid Prevents Experimental Aminoglycoside Nephrotoxicity

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The abundance of RNPS1, a protein component of the exon junction complex, can determine the variability in efficiency of the Nonsense Mediated Decay pathway

Viegas, M. H., Gehring, N. H., Breit, S., Hentze, M. W., & Kulozik, A. E. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm461 · Cited by 124 · see citing works

Negamycin Restores Dystrophin Expression in Skeletal and Cardiac Muscles of mdx Mice

Arakawa, M. (2003) · The Journal of Biochemistry · doi:10.1093/jb/mvg203 · Cited by 122 · see citing works

Attenuation of Nonsense-Mediated mRNA Decay Enhances In Vivo Nonsense Suppression

Keeling, K. M., Wang, D., Dai, Y., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0060478 · Cited by 120 · see citing works

Discrimination Between Defects in Elongation Fidelity and Termination Efficiency Provides Mechanistic Insights into Translational Readthrough

Salas-Marco, J., & Bedwell, D. M. (2005) · Journal of Molecular Biology · doi:10.1016/j.jmb.2005.03.025 · Cited by 116 · see citing works

New animal models of cystic fibrosis

Keiser, N. W., & Engelhardt, J. F. (2011) · Current Opinion in Pulmonary Medicine · doi:10.1097/mcp.0b013e32834b14c9 · Cited by 114 · see citing works

Mechanism of Action of an Antiallergic Agent, Amlexanox (AA-673), in Inhibiting Histamine Release from Mast Cells

Makino, H., Saijo, T., Ashida, Y., et al. (2009) · International Archives of Allergy and Applied Immunology · doi:10.1159/000234292 · Cited by 112 · see citing works

Interaction of Aminoglycosides with Human Mitochondrial 12S rRNA Carrying the Deafness-Associated Mutation

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Correction of Nonsense BMPR2 and SMAD9 Mutations by Ataluren in Pulmonary Arterial Hypertension

Drake, K. M., Dunmore, B. J., McNelly, L. N., et al. (2013) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/rcmb.2013-0100oc · Cited by 112 · see citing works

Pharmacologic therapy for stop mutations: how much CFTR activity is enough?

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Amlexanox for the Treatment of Recurrent Aphthous Ulcers

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Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model

Brendel, C., Белахов, В. В., Werner, H. B., Wegener, E., Gärtner, J., Nudelman, I., Baasov, T., & Huppke, P. (2010) · Journal of Molecular Medicine · doi:10.1007/s00109-010-0704-4 · Cited by 102 · see citing works

A comparative evaluation of NB30, NB54 and PTC124 in translational read‐through efficacy for treatment of an USH1C nonsense mutation

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Inhibition of nonsense‐mediated mRNA decay rescues the phenotype in Ullrich's disease

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PTC124-Mediated Translational Readthrough of a Nonsense Mutation Causing Usher Syndrome Type 1C

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Interactions between tRNA identity nucleotides and their recognition sites in glutaminyl-tRNA synthetase determine the cognate amino acid affinity of the enzyme.

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Nonsense-mediated mRNA decay occurs during eIF4F-dependent translation in human cells

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Specific inhibition of nonsense-mediated mRNA decay components, SMG-1 or Upf1, rescues the phenotype of ullrich disease fibroblasts

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