Duchenne Muscular Dystrophy: Methods and Protocols

ISBN-13: 9781493984664 / Angielski / Miękka / 2018 / 287 str.

Camilla Bernardini

Spis treści

Part I: Reviews and Overview Chapters

 

1. An Overview of Recent Therapeutics Advances for Duchenne Muscular Dystrophy

            Jean K. Mah

 

2. Clinical Manifestations and Overall Management Strategies for Duchenne Muscular Dystrophy

            Takeshi Tsuda

 

Part II: Skeletal and Cardiac Muscle in DMD

 

3. Cardiac Involvement in Duchenne Muscular Dystrophy and Related Dystrophinopathies

            Sophie I. Mavrogeni, George Markousis-Mavrogenis, Antigoni Papavasiliou, George Papadopoulos, and Genovefa Kolovou

 

4. Characterization of the Inflammatory Response in Dystrophic Muscle Using Flow Cytometry

            Jenna M. Kastenschmidt, Ileen Avetyan, and S. Armando Villalta

 

5. Imaging Analysis of the Neuromuscular Junction in Dystrophic Muscle

            Stephen J.P. Pratt, Shama R. Iyer, Sameer B. Shah, and Richard M. Lovering

 

Part III: Omics Approaches

 

6. System Biology Approach: Gene Network Analysis for Muscular Dystrophy

            Federica Censi, Giovanni Calcagnini, Eugenio Mattei, and Alessandro Giuliani

 

7. Proteomic Profiling of the Dystrophin-Deficient Brain

            Sandra Murphy and Kay Ohlendieck

 

8. Probing the Pathogenesis of Duchenne Muscular Dystrophy Using Mouse Models

            Alexander Morrison-Nozik and Saptarsi M. Haldar

 

Part IV: Exon Skipping and Antisense Oligonucleotides (ASOs)

 

9. Exon Skipping Therapy Using Phosphorodiamidate Morpholino Oligomers in the mdx52 Mouse Model of Duchenne Muscular Dystrophy

            Shouta Miyatake, Yoshitaka Mizobe, Hotake Takizawa, Yuko Hara, Toshifumi Yokota, Shin’ichi Takeda, and Yoshitsugu Aoki

 

10. Designing Effective Antisense Oligonucleotides for Exon Skipping

            Takenori Shimo, Rika Maruyama, and Toshifumi Yokota

 

11. Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay

            Julie Miro, Cyril F. Bourgeois, Mireille Claustres, Michel Koenig, and Sylvie Tuffery-Giraud

 

12. The Use of Antisense Oligonucleotides for the Treatment of Duchenne Muscular Dystrophy

            Karima Relizani and Aurelie Goyenvalle

 

13. PMO Delivery System Using Bubble Liposomes and Ultrasound Exposure for Duchenne Muscular Dystrophy Treatment

            Yoichi Negishi, Yuko Ishii, Kei Nirasawa, Eri Sasaki, Yoko Endo-Takahashi,

Ryo Suzuki, and Kazuo Maruyama

 

Part V: Biomarkers and Drug Discovery

 

14. Proton Nuclear Magnetic Resonance (¹H NMR) Spectroscopy-Based Analysis of Lipid Components in Serum / Plasma of Patients with Duchenne Muscular Dystrophy (DMD)

            Niraj Kumar Srivastava

 

15. Test of Anti-Fibrotic Drugs in a Cellular Model of Fibrosis Based on Muscle-Derived Fibroblasts from Duchenne Muscular Dystrophy Patients

            Simona Zanotti and Marina Mora

 

16. Flow Cytometry-Defined CD49d Expression in Circulating T-Lymphocytes is a Biomarker for Disease Progression in Duchenne Muscular Dystrophy

            Wilson Savino, Fernanda Pinto-Mariz, and Vincent Mouly

 

Part VI: Last Discoveries and Future Prospectives

 

17. Advanced Methods to Study the Cross-Talk Between Fibro-Adipogenic Progenitors and Muscle Stem Cells

            Luca Tucciarone, Usue Etxaniz, Martina Sandoná, Silvia Consalvi, Pier Lorenzo Puri, and Valentina Saccone

 

18. AAV6 Vector Production and Purification for Muscle Gene Therapy

            Christine L. Halbert, James M. Allen, and Jeffrey S. Chamberlain

 

19. From gRNA Identification to the Restoration of Dystrophin Expression: A Dystrophin Gene Correction Strategy for Duchenne Muscular Dystrophy Mutations Using the CRISPR-Induced Deletion Method

            Benjamin Duchêne, Jean-Paul Iyombe-Engembe, Joël Rousseau, Jacques P. Tremblay, and Dominique L. Ouellet

Blurb

This volume explores experimental approaches used to study Duchenne muscular dystrophy (DMD), an X-linked degenerative skeletal muscle disease caused by mutations in the dystrophin gene. Including the latest progress and scientific achievements, the book covers recent discoveries achieved through in vivo gene editing which have proven to be promising in restoring dystrophin expression, at least in ameliorating skeletal muscle symptoms, and the contents focus on “Omics” techniques in gene expression, protein expression, miRNAs, and long non-coding RNA analysis, as well as experimental studies of the structural/functional changes affecting the skeletal and cardiac muscles and ongoing preclinical studies and clinical trials. 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 practical, Duchenne Muscular Dystrophy: Methods and Protocols serves as a guide for researchers exploring the complicated nature of dystrophin in the hope of helping the victims of this disorder.