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Expert Opinion on Biological Therapy Volume 12, 2012 - Issue 9
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Exon skipping for nonsense mutations in Duchenne muscular dystrophy: too many mutations, too few patients?

Toshifumi YokotaUniversity of Alberta, Department of Medical Genetics, School of Human Development, Faculty of Medicine and Dentistry, 829 Medical Sciences Building, Edmonton, AB T6G 2H7, [email protected];The Friends of Garrett Cumming Research & Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, 829 Medical Sciences Building, Edmonton, AB T6G 2H7, Canada
, PhD,
William DuddyInstitut de Myologie, Faculté de Médecine-Pitié Salpétrière, Université Pierre et Marie Curie Paris 6, Paris, France;Unité Mixte de Recherche UPMC-AIM, UMR S974, INSERM U974, CNRS UMR 7215, Paris, France
, PhD,
Yusuke EchigoyaUniversity of Alberta, Department of Medical Genetics, School of Human Development, Faculty of Medicine and Dentistry, 829 Medical Sciences Building, Edmonton, AB T6G 2H7, [email protected]
, DVM PhD &
Hanna KolskiUniversity of Alberta, Department of Pediatrics, Faculty of Medicine and Dentistry, 4-512 Edmonton Clinic Health Academy, Edmonton, AB T6G 1C9, Canada
, MD
Pages 1141-1152 | Published online: 01 Jun 2012

Citations (31)

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Read on this site (2)

Omar Sheikh & Toshifumi Yokota. (2021) Developing DMD therapeutics: a review of the effectiveness of small molecules, stop-codon readthrough, dystrophin gene replacement, and exon-skipping therapies. Expert Opinion on Investigational Drugs 30:2, pages 167-176.
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Kenji Rowel Q Lim, Rika Maruyama & Toshifumi Yokota. (2017) Eteplirsen in the treatment of Duchenne muscular dystrophy. Drug Design, Development and Therapy 11, pages 533-545.
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Articles from other publishers (29)

Narin Sheri & Toshifumi Yokota. 2023. Skeletal Muscle Stem Cells. Skeletal Muscle Stem Cells 327 336 .
Merry He & Toshifumi Yokota. 2023. Skeletal Muscle Stem Cells. Skeletal Muscle Stem Cells 313 325 .
Saifullah, Norio Motohashi, Toshifumi Tsukahara & Yoshitsugu Aoki. (2022) Development of Therapeutic RNA Manipulation for Muscular Dystrophy. Frontiers in Genome Editing 4.
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Zachary Fralish, Ethan M. Lotz, Taylor Chavez, Alastair Khodabukus & Nenad Bursac. (2021) Neuromuscular Development and Disease: Learning From in vitro and in vivo Models. Frontiers in Cell and Developmental Biology 9.
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Omar Sheikh & Toshifumi Yokota. (2020) Advances in Genetic Characterization and Genotype–Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era. Journal of Personalized Medicine 10:3, pages 111.
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Kasia Dzierlega & Toshifumi Yokota. (2020) Optimization of antisense-mediated exon skipping for Duchenne muscular dystrophy. Gene Therapy 27:9, pages 407-416.
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Dominique Mias-Lucquin, Raphael Dos Santos Morais, Angélique Chéron, Mélanie Lagarrigue, Steve J. Winder, Thomas Chenuel, Javier Pérez, Marie-Sousai Appavou, Anne Martel, Guillaume Alviset, Elisabeth Le Rumeur, Sophie Combet, Jean-François Hubert & Olivier Delalande. (2020) How the central domain of dystrophin acts to bridge F-actin to sarcolemmal lipids. Journal of Structural Biology 209:1, pages 107411.
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Yusuke Echigoya, Kenji Rowel Q. Lim, Dyanna Melo, Bo Bao, Nhu Trieu, Yoshitaka Mizobe, Rika Maruyama, Kamel Mamchaoui, Jun Tanihata, Yoshitsugu Aoki, Shin’ichi Takeda, Vincent Mouly, William Duddy & Toshifumi Yokota. (2019) Exons 45–55 Skipping Using Mutation-Tailored Cocktails of Antisense Morpholinos in the DMD Gene. Molecular Therapy 27:11, pages 2005-2017.
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Liang Wang, Min Xu, Huan Li, Ruojie He, Jinfu Lin, Cheng Zhang & Yuling Zhu. (2019) Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies. Frontiers in Genetics 10.
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Jaeho Hwang & Toshifumi Yokota. (2019) Recent advancements in exon-skipping therapies using antisense oligonucleotides and genome editing for the treatment of various muscular dystrophies. Expert Reviews in Molecular Medicine 21.
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Yusuke Echigoya, Kenji Rowel Q. Lim, Akinori Nakamura & Toshifumi Yokota. (2018) Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges. Journal of Personalized Medicine 8:4, pages 41.
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Tejal Aslesh, Rika Maruyama & Toshifumi Yokota. (2018) Skipping Multiple Exons to Treat DMD—Promises and Challenges. Biomedicines 6:1, pages 1.
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Rika Maruyama & Toshifumi Yokota. 2018. Exon Skipping and Inclusion Therapies. Exon Skipping and Inclusion Therapies 79 90 .
Rika Maruyama, Yoshitsugu Aoki, Shin’ichi Takeda & Toshifumi Yokota. 2018. Exon Skipping and Inclusion Therapies. Exon Skipping and Inclusion Therapies 365 379 .
Merryl Rodrigues & Toshifumi Yokota. 2018. Exon Skipping and Inclusion Therapies. Exon Skipping and Inclusion Therapies 31 55 .
Rika Maruyama & Toshifumi Yokota. 2018. Exon Skipping and Inclusion Therapies. Exon Skipping and Inclusion Therapies 165 171 .
Takenori Shimo, Rika Maruyama & Toshifumi Yokota. 2018. Duchenne Muscular Dystrophy. Duchenne Muscular Dystrophy 143 155 .
Quynh Nguyen & Toshifumi Yokota. (2017) Immortalized Muscle Cell Model to Test the Exon Skipping Efficacy for Duchenne Muscular Dystrophy. Journal of Personalized Medicine 7:4, pages 13.
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Liang Wang, Menglong Chen, Ruojie He, Yiming Sun, Juan Yang, Lulu Xiao, Jiqing Cao, Huili Zhang & Cheng Zhang. (2017) Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged ≤3 Years: A Retrospective Study. Frontiers in Neurology 8.
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Victoria P. A. Johnstone, Helena M. Viola & Livia C. Hool. (2017) Dystrophic Cardiomyopathy—Potential Role of Calcium in Pathogenesis, Treatment and Novel Therapies. Genes 8:4, pages 108.
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Forum Kamdar, Pradeep P. A. Mammen & Daniel J. Garry. 2017. Congestive Heart Failure and Cardiac Transplantation. Congestive Heart Failure and Cardiac Transplantation 175 196 .
Joshua J. A. Lee & Toshifumi Yokota. 2016. Translational Research in Muscular Dystrophy. Translational Research in Muscular Dystrophy 87 102 .
Bailey Nichols, Shin'ichi Takeda & Toshifumi Yokota. (2015) Nonmechanical Roles of Dystrophin and Associated Proteins in Exercise, Neuromuscular Junctions, and Brains. Brain Sciences 5:3, pages 275-298.
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Jennifer Manning & Dervla O’Malley. (2015) What has the mdx mouse model of duchenne muscular dystrophy contributed to our understanding of this disease?. Journal of Muscle Research and Cell Motility 36:2, pages 155-167.
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Litao Zhang & Carl Decicco. 2014. Collaborative Innovation in Drug Discovery. Collaborative Innovation in Drug Discovery 31 56 .
José-Alain Sahel & Katia Marazova. (2013) Toward postnatal reversal of ocular congenital malformations. Journal of Clinical Investigation 124:1, pages 81-84.
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Andrew G.L. Douglas & Matthew J.A. Wood. (2013) Splicing therapy for neuromuscular disease. Molecular and Cellular Neuroscience 56, pages 169-185.
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Joshua Lee & Toshifumi Yokota. (2013) Antisense Therapy in Neurology. Journal of Personalized Medicine 3:3, pages 144-176.
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Yusuke Echigoya, Joshua Lee, Merryl Rodrigues, Tetsuya Nagata, Jun Tanihata, Ashkan Nozohourmehrabad, Dharminder Panesar, Bailey Miskew, Yoshitsugu Aoki & Toshifumi Yokota. (2013) Mutation Types and Aging Differently Affect Revertant Fiber Expansion in Dystrophic Mdx and Mdx52 Mice. PLoS ONE 8:7, pages e69194.
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