Skip to main content
  • Book
  • © 2018

Exon Skipping and Inclusion Therapies

Methods and Protocols

  • 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)

Buy it now

Buying options

eBook USD 139.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 179.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 249.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

This is a preview of subscription content, log in via an institution to check for access.

Table of contents (37 protocols)

  1. Front Matter

    Pages i-xv
  2. Basics and Introductions

    1. Front Matter

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

      • Kenji Rowel Q. Lim, Toshifumi Yokota
      Pages 3-30
    3. 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
    2. 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
    2. Quantitative Evaluation of Exon Skipping in Immortalized Muscle Cells In Vitro

      • Kenji Rowel Q. Lim, Toshifumi Yokota
      Pages 127-139
    3. 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
    4. In Vitro Evaluation of Exon Skipping in Disease-Specific iPSC-Derived Myocytes

      • Mingming Zhao, Emi Shoji, Hidetoshi Sakurai
      Pages 173-189
    5. 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
    6. 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
    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

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

Buy it now

Buying options

eBook USD 139.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 179.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 249.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access