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Overview on Applications of Antisense-Mediated Exon Skipping

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Exon Skipping

Part of the book series: Methods in Molecular Biology ((MIMB,volume 867))

Abstract

Antisense-mediated exon skipping has multiple therapeutic applications. This chapter gives an overview of how this tool has been employed to restore normal splicing for cryptic splicing mutations, to switch between alternative splicing isoforms, to induce exon inclusion, to correct the reading frame to allow the production of internally deleted proteins, or to induce reading frame disruptions to achieve partial protein knockdown. For each application, examples are discussed and the current state of the art is described.

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Acknowledgments

WvRM receives funding from The Prinses Beatrix Foundation (The Netherlands), ADCA vereniging (The Netherlands), Ataxia UK (United Kingdom), and NGI Exemplification Award (The Netherlands).

AAR receives funding from ZonMw (The Netherlands), the Dutch Duchenne Parent Project (The Netherlands), Spieren voor spieren (Prinses Beatrix Foundation, The Netherlands) and the European Union (LUMC is partner in the TREAT-NMD network of excellence (LSHM-CT-2006-036825), and the BIO-NMD project (HEALTH-F2-2009-241665)). The LUMC participated in the Center for Biomedical Genetics (The Netherlands) and the Center for Medical Systems Biology (The Netherlands).

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Authors and Affiliations

  1. Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

    Willeke M. C. van Roon-Mom & Annemieke Aartsma-Rus

Authors
  1. Willeke M. C. van Roon-Mom
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  2. Annemieke Aartsma-Rus
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Correspondence to Annemieke Aartsma-Rus .

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Editors and Affiliations

  1. Dept. Human & Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, Leiden, 2333 ZC, Netherlands

    Annemieke Aartsma-Rus

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van Roon-Mom, W.M.C., Aartsma-Rus, A. (2012). Overview on Applications of Antisense-Mediated Exon Skipping. In: Aartsma-Rus, A. (eds) Exon Skipping. Methods in Molecular Biology, vol 867. Humana Press. https://doi.org/10.1007/978-1-61779-767-5_6

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  • DOI: https://doi.org/10.1007/978-1-61779-767-5_6

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  • Publisher Name: Humana Press

  • Print ISBN: 978-1-61779-766-8

  • Online ISBN: 978-1-61779-767-5

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