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Exon Skipping and Inclusion Therapies

Methods and Protocols

  • Book
  • © 2018

Overview

Editors:
  1. Toshifumi Yokota

    1. Medical Genetics, University of Alberta, Edmonton, Canada

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  2. Rika Maruyama

    1. Medical Genetics, University of Alberta, Edmonton, Canada

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  • Includes cutting-edge methods and protocols
  • Provides step-by-step detail essential for reproducible results
  • Contains key notes and implementation advice from the experts

Part of the book series: Methods in Molecular Biology (MIMB, volume 1828)

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Table of contents (37 protocols)

  1. Front Matter

    Pages i-xv
    Download chapter PDF

  2. Basics and Introductions

    1. Front Matter

      Pages 1-1
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    2. Invention and Early History of Exon Skipping and Splice Modulation

      • Kenji Rowel Q. Lim, Toshifumi Yokota
      Pages 3-30

    3. An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases

      • Merryl Rodrigues, Toshifumi Yokota
      Pages 31-55

    4. Recent Advances and Clinical Applications of Exon Inclusion for Spinal Muscular Atrophy

      • Hae-Won Son, Toshifumi Yokota
      Pages 57-68

    5. Nusinersen in the Treatment of Spinal Muscular Atrophy

      • Kara Goodkey, Tejal Aslesh, Rika Maruyama, Toshifumi Yokota
      Pages 69-76

  3. Design of AONs and Strategy

    1. Front Matter

      Pages 77-77
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    2. Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion

      • Rika Maruyama, Toshifumi Yokota
      Pages 79-90

    3. Antisense Oligonucleotide Targeting of 3’-UTR of mRNA for Expression Knockdown

      • Golnoush Golshirazi, Lukasz Ciszewski, Ngoc Lu-Nguyen, Linda Popplewell
      Pages 91-124

  4. In Vitro Evaluation of Exon Skipping for DMD

    1. Front Matter

      Pages 125-125
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    2. Quantitative Evaluation of Exon Skipping in Immortalized Muscle Cells In Vitro

      • Kenji Rowel Q. Lim, Toshifumi Yokota
      Pages 127-139

    3. Direct Reprogramming of Human DMD Fibroblasts into Myotubes for In Vitro Evaluation of Antisense-Mediated Exon Skipping and Exons 45–55 Skipping Accompanied by Rescue of Dystrophin Expression

      • Joshua J. A. Lee, Takashi Saito, William Duddy, Shin’ichi Takeda, Toshifumi Yokota
      Pages 141-150

    4. In Vitro Multiexon Skipping by Antisense PMOs in Dystrophic Dog and Exon 7-Deleted DMD Patient

      • Akinori Nakamura, Yoshitsugu Aoki, Maria Tsoumpra, Toshifumi Yokota, Shin’ichi Takeda
      Pages 151-163

    5. Creation of DMD Muscle Cell Model Using CRISPR-Cas9 Genome Editing to Test the Efficacy of Antisense-Mediated Exon Skipping

      • Rika Maruyama, Toshifumi Yokota
      Pages 165-171

    6. In Vitro Evaluation of Exon Skipping in Disease-Specific iPSC-Derived Myocytes

      • Mingming Zhao, Emi Shoji, Hidetoshi Sakurai
      Pages 173-189

    7. Restoration of Dystrophin Protein Expression by Exon Skipping Utilizing CRISPR-Cas9 in Myoblasts Derived from DMD Patient iPS Cells

      • Masataka Ifuku, Kumiko A. Iwabuchi, Masami Tanaka, Mandy Siu Yu Lung, Akitsu Hotta
      Pages 191-217

    8. Skipping of Duplicated Dystrophin Exons: In Vitro Induction and Assessment

      • Kane Greer, Sue Fletcher, Steve D. Wilton
      Pages 219-228

  5. In Vivo Evaluation of Exon Skipping for DMD

    1. Front Matter

      Pages 229-229
      Download chapter PDF

    2. In Vivo Evaluation of Dystrophin Exon Skipping in mdx Mice

      • Bo Wu, Mingxing Wang, Sapana Shah, Qi Long Lu
      Pages 231-247

    3. Exon 51 Skipping Quantification by Digital Droplet PCR in del52hDMD/mdx Mice

      • Monika Hiller, Pietro Spitali, Nicole Datson, Annemieke Aartsma-Rus
      Pages 249-262
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Keywords

About this book

This book presents a comprehensive collection of detailed state-of-the-art exon skipping and splices modulation protocols. Chapters detail 14 genetic diseases, AON-mediated therapies, and CRISPR/Cas9-mediated gene editing therapies. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.

Authoritative and cutting-edge, Exon Skipping and Inclusion Therapies: Methods and Protocols aims to help researchers initiate the development of next-generation therapies.

Editors and Affiliations

  • Medical Genetics, University of Alberta, Edmonton, Canada

    Toshifumi Yokota, Rika Maruyama

Bibliographic Information

  • Book Title: Exon Skipping and Inclusion Therapies

  • Book Subtitle: Methods and Protocols

  • Editors: Toshifumi Yokota, Rika Maruyama

  • Series Title: Methods in Molecular Biology

  • DOI: https://doi.org/10.1007/978-1-4939-8651-4

  • Publisher: Humana New York, NY

  • eBook Packages: Springer Protocols

  • Copyright Information: Springer Science+Business Media, LLC, part of Springer Nature 2018

  • Hardcover ISBN: 978-1-4939-8650-7Published: 01 September 2018

  • Softcover ISBN: 978-1-4939-9354-3Published: 10 December 2019

  • eBook ISBN: 978-1-4939-8651-4Published: 31 August 2018

  • Series ISSN: 1064-3745

  • Series E-ISSN: 1940-6029

  • Edition Number: 1

  • Number of Pages: XV, 569

  • Number of Illustrations: 26 b/w illustrations, 77 illustrations in colour

  • Topics: Human Genetics

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