Read-Through Strategies for Suppression of Nonsense Mutations in Duchenne/ Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124)
关键词: Ataluren 、 Messenger RNA 、 Nonsense mutation 、 Dystrophin 、 Nonsense 、 Open reading frame 、 Biology 、 Genetics 、 Exon 、 Muscular dystrophy
摘要: … ataluren was first evaluated in a phase 1 study in healthy adult human volunteers.Data from this study established that orally administered ataluren … high doses of ataluren; at drug levels …
sagepub.com
sci-hub.se 参考文章(41)
June Kopelowitz, Christiane Hampe, Ronit Goldman, Myriam Reches, Hanna Engelberg-Kulka, Influence of codon context on UGA suppression and readthrough. Journal of Molecular Biology. ,vol. 225, pp. 261- 269 ,(1992) , 10.1016/0022-2836(92)90920-F
Toshifumi Yokota, Shin’ichi Takeda, Qi-Long Lu, Terence A. Partridge, Akinori Nakamura, Eric P. Hoffman, A renaissance for antisense oligonucleotide drugs in neurology: exon skipping breaks new ground. JAMA Neurology. ,vol. 66, pp. 32- 38 ,(2009) , 10.1001/ARCHNEUROL.2008.540
Michael T Howard, Brian H Shirts, Lorin M Petros, Kevin M Flanigan, Raymond F Gesteland, John F Atkins, None, Sequence specificity of aminoglycoside-induced stop codon readthrough: Potential implications for treatment of Duchenne muscular dystrophy Annals of Neurology. ,vol. 48, pp. 164- 169 ,(2000) , 10.1002/1531-8249(200008)48:2<164::AID-ANA5>3.0.CO;2-B
Alan E.H. Emery, Population frequencies of inherited neuromuscular diseases—A world survey Neuromuscular Disorders. ,vol. 1, pp. 19- 29 ,(1991) , 10.1016/0960-8966(91)90039-U
Michael J. Allikian, Elizabeth M. McNally, Processing and assembly of the dystrophin glycoprotein complex Traffic. ,vol. 8, pp. 177- 183 ,(2007) , 10.1111/J.1600-0854.2006.00519.X
Nadia Amrani, Robin Ganesan, Stephanie Kervestin, David A. Mangus, Shubhendu Ghosh, Allan Jacobson, A faux 3'-UTR promotes aberrant termination and triggers nonsense- mediated mRNA decay Nature. ,vol. 432, pp. 112- 118 ,(2004) , 10.1038/NATURE03060
Judith C. van Deutekom, Anneke A. Janson, Ieke B. Ginjaar, Wendy S. Frankhuizen, Annemieke Aartsma-Rus, Mattie Bremmer-Bout, Johan T. den Dunnen, Klaas Koop, Anneke J. van der Kooi, Nathalie M. Goemans, Sjef J. de Kimpe, Peter F. Ekhart, Edna H. Venneker, Gerard J. Platenburg, Jan J. Verschuuren, Gert-Jan B. van Ommen, Local Dystrophin Restoration with Antisense Oligonucleotide PRO051 The New England Journal of Medicine. ,vol. 357, pp. 2677- 2686 ,(2007) , 10.1056/NEJMOA073108
M. Koenig, E.P. Hoffman, C.J. Bertelson, A.P. Monaco, C. Feener, L.M. Kunkel, Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals Cell. ,vol. 50, pp. 509- 517 ,(1987) , 10.1016/0092-8674(87)90504-6
Kevin M. Flanigan, Diane M. Dunn, Andrew von Niederhausern, Payam Soltanzadeh, Eduard Gappmaier, Michael T. Howard, Jacinda B. Sampson, Jerry R. Mendell, Cheryl Wall, Wendy M. King, Alan Pestronk, Julaine M. Florence, Anne M. Connolly, Katherine D. Mathews, Carrie M. Stephan, Karla S. Laubenthal, Brenda L. Wong, Paula J. Morehart, Amy Meyer, Richard S. Finkel, Carsten G. Bonnemann, Livija Medne, John W. Day, Joline C. Dalton, Marcia K. Margolis, Veronica J. Hinton, Robert B. Weiss, , Mutational Spectrum of DMD Mutations in Dystrophinopathy Patients: Application of Modern Diagnostic Techniques to a Large Cohort Human Mutation. ,vol. 30, pp. 1657- 1666 ,(2009) , 10.1002/HUMU.21114
Wolfgang Löscher, Ulrich Klotz, Fritz Zimprich, Dieter Schmidt, The clinical impact of pharmacogenetics on the treatment of epilepsy Epilepsia. ,vol. 50, pp. 1- 23 ,(2009) , 10.1111/J.1528-1167.2008.01716.X