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Correction of genetic disease by making sense from nonsense
Randal J. Kaufman
Published in Volume 104, Issue 4
J Clin Invest. 1999; 104(4):367 doi:10.1172/JCI8055
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Translational errors: from yeast to new therapeutic targets
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Transdermal delivery of a readthrough-inducing drug: a new approach of gentamicin administration for the treatment of nonsense mutation-mediated disorders
M. Shiozuka, A. Wagatsuma, T. Kawamoto, H. Sasaki, K. Shimada, Y. Takahashi, Y. Nonomura, R. Matsuda		 J Biochem 2009 .
In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome
Samuel Bellais, Carine Le Goff, Nathalie Dagoneau, Arnold Munnich, Oliver Quarrell		 Eur J Hum Genet 2009 .
Development of K562 cell clones expressing β-globin mRNA carrying the β039 thalassaemia mutation for the screening of correctors of stop-codon mutations
Francesca Salvatori, Vera Cantale, Giulia Breveglieri, Cristina Zuccato, Alessia Finotti, Nicoletta Bianchi, Monica Borgatti, Giordana Feriotto, Federica Destro, Alessandro Canella, Laura Breda, Stefano Rivella, Roberto Gambari		 Biotechnol Appl Biochem 2009 .
Designer aminoglycosides: the race to develop improved antibiotics and compounds for the treatment of human genetic diseases
Mariana Hainrichson, Igor Nudelman, Timor Baasov		 Org Biomol Chem 2008 .
Combined Chemical-Enzymatic Assembly of Aminoglycoside Derivatives with N-1-AHB Side Chain
Igor Nudelman, Lilach Chen, Nicholas M. Llewellyn, El-Habib Sahraoui, Marina Cherniavsky, Jonathan B. Spencer, Timor Baasov		 Adv Synth Catal 2008 .
Drug-induced readthrough of premature stop codons leads to the stabilization of laminin α2 chain mRNA in CMD myotubes
Valérie Allamand, Laure Bidou, Masayuki Arakawa, Célia Floquet, Masataka Shiozuka, Marion Paturneau-Jouas, Corine Gartioux, Gillian S. Butler-Browne, Vincent Mouly, Jean-Pierre Rousset, Ryoichi Matsuda, Daishiro Ikeda, Pascale Guicheney		 J Gene Med 2008 .
Differential Selectivity of Natural and Synthetic Aminoglycosides towards the Eukaryotic and Prokaryotic Decoding A Sites
Jiro Kondo, Mariana Hainrichson, Igor Nudelman, Dalia Shallom-Shezifi, Christopher M. Barbieri, Daniel S. Pilch, Eric Westhof, Timor Baasov		 ChemBioChem 2007 .
Surgical stress-induced transient nephrogenic diabetes insipidus (NDI) associated with decreased Vasopressin receptor2 (AVPR2) expression linked to nonsense-mediated mRNA decay and incomplete skewed X-inactivation in a female patient with a heterozygous A
Masashi Demura, Yoshiyu Takeda, Takashi Yoneda, Nobushige Oda, Yukihiro Bando, Hiroshi Mabuchi		 CLIN ENDOCR 2004 .
Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome
Melanie Peters, Saskia Ermert, Nikola Jeck, Christian Derst, Ulla Pechmann, Stefanie Weber, Karl P. Schlingmann, Hannsjoerg W. Seyberth, Siegfried Waldegger, Martin Konrad		 Kidney Int 2003 .
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations
Kathryn R. Wagner, Sherifa Hamed, Donald W. Hadley, Andrea L. Gropman, Aaron H. Burstein, Diana M. Escolar, Eric P. Hoffman, Kenneth H. Fischbeck		 Annuals of Neurology 2001 .
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