Duchenne Muscular Dystrophy

1. Front Matter

   Pages i-xii

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2. Reviews and Overview Chapters

   1. Front Matter

      Pages 1-1

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

      • Jean K. Mah

      Pages 3-17

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

      • Takeshi Tsuda

      Pages 19-28

3. Skeletal and Cardiac Muscle in DMD

   1. Front Matter

      Pages 29-29

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   2. Cardiac Involvement in Duchenne Muscular Dystrophy and Related Dystrophinopathies

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

      Pages 31-42

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

      • Jenna M. Kastenschmidt, Ileen Avetyan, S. A. Villalta

      Pages 43-56

   4. Imaging Analysis of the Neuromuscular Junction in Dystrophic Muscle

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

      Pages 57-72

4. Omics Approaches

   1. Front Matter

      Pages 73-73

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

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

      Pages 75-89

   3. Proteomic Profiling of the Dystrophin-Deficient Brain

      • Sandra Murphy, Kay Ohlendieck

      Pages 91-105

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

      • Alexander Morrison-Nozik, Saptarsi M. Haldar

      Pages 107-119

5. Exon Skipping and Antisense Oligonucleotides (ASOs)

   1. Front Matter

      Pages 121-121

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   2. 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 et al.

      Pages 123-141

   3. Designing Effective Antisense Oligonucleotides for Exon Skipping

      • Takenori Shimo, Rika Maruyama, Toshifumi Yokota

      Pages 143-155

   4. 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, Sylvie Tuffery-Giraud

      Pages 157-169

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

      • Karima Relizani, Aurelie Goyenvalle

      Pages 171-183

   6. 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 et al.

      Pages 185-192

6. Biomarkers and Drug Discovery

   1. Front Matter

      Pages 193-193

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   2. 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

      Pages 195-204

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 troubleshootingand 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.

• DMD
• Dystrophin expression
• Skeletal muscle
• Exon skipping
• Drug discovery
• Targeted molecular treatments
• Cardiac muscles

• Istituto di Anatomia Umana e Biologia Cellulare, Università Cattolica del Sacro Cuore, Roma, Italy

  Camilla Bernardini

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