Duchenne Muscular Dystrophy

Methods and Protocols

Kevin Flanigan, Stefan Nicolau (Herausgeber)

Buch | Hardcover

298 Seiten

2025
Humana (Verlag)
9781071648100 (ISBN)

Artikel merken

This volume discusses protocols for key laboratory techniques used to study Duchenne and Becker muscular dystrophies. The chapters in this book cover a wide array of topics such as biochemical assays, quantification of dystrophin and related proteins, and measurements of muscle physiology. The chapters also cover methods of DMD sequence analysis; processing and isolation of cells from muscle tissue; culture and study of patient-derived cells; and work with animal models of DMD. 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.

Comprehensive and authoritative, Duchenne Muscular Dystrophy: Methods and Protocols is a valuable resource that will contribute to the standardization of practices in the study of dystrophin and dystrophin-related disease.

Multiplex Ligation-Dependent Probe Amplification (MLPA) for the Detection of Copy Number Mutations in the DMD Gene.- Total RNA-seq as a Tool to Study DMD Splicing and Transcriptional Dynamics.- Preparation, Sectioning, and Histochemical Staining of Muscle Tissue.- Manual Immunofluorescence Staining for Dystrophin and Key Dystrophin-Associated Proteins.- Automated Quantification of Dystrophin Expression by Immunofluorescence in Humans and Animal Models.- Quantitative Evaluation of Dystrophin Expression Using SDS-PAGE Western Blot Methods.- Analysis of Dystrophin-Associated Glycoproteins: Focus on Expression and Glycosylation of Dystroglycan in Skeletal Muscle.- Quantification of Dystrophin Expression by Capillary Immunoassay.- Quantification of Dystrophin in Human Muscle Biopsies by Mass Spectrometry.- Isolation and Culture of Primary Myoblasts from Humans and Mice.- Isolation of Immune Cells from Skeletal Muscles for Flow Cytometry.- Exploring Therapies for Duchenne Muscular Dystrophy using Transdifferentiated Patient Fibroblasts.- Culture and Electrophysiological Analysis of Patient-Specific iPSCs using Microelectrode Array Dishes.- Canine Model of Duchenne Muscular Dystrophy.- In Vivo Electroporation of Plasmid DNA into the Skeletal Muscle of Dystrophic Mouse Models.- Intramuscular and Intravenous AAV-Mediated Gene Delivery in Mouse Models.- Assessment of Contractile and Kinetic Properties of Skeletal and Cardiac Multicellular Preparations in Mouse Models: A Comprehensive Methodological Guide.

Erscheinungsdatum	24.07.2025
Reihe/Serie	Methods in Molecular Biology
Zusatzinfo	43 Illustrations, color; 16 Illustrations, black and white
Sprache	englisch
Maße	178 x 254 mm
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete ► Orthopädie
	Medizin / Pharmazie ► Studium
	Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie
	Naturwissenschaften ► Biologie ► Humanbiologie
	Naturwissenschaften ► Biologie ► Zoologie
Schlagworte	capillary immunoassay • Dystrophin expression • immunohistochemical analysis • Mass Spectrometry • Next generation sequencing
ISBN-13	9781071648100 / 9781071648100
Zustand	Neuware