Flanigan / Nicolau Duchenne Muscular Dystrophy
Erscheinungsjahr 2025
ISBN: 978-1-0716-4811-7
Verlag: Springer US
Format: PDF
Kopierschutz: 1 - PDF Watermark
Methods and Protocols
E-Book, Englisch, 298 Seiten
Reihe: Springer Protocols
ISBN: 978-1-0716-4811-7
Verlag: Springer US
Format: PDF
Kopierschutz: 1 - PDF Watermark
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
sequence analysis; processing and isolation of cells from muscle tissue; culture and study of patient-derived cells; and work with animal models of
. Written in the highly successful
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,
is a valuable resource that will contribute to the standardization of practices in the study of dystrophin and dystrophin-related disease.
Zielgruppe
Professional/practitioner
Autoren/Hrsg.
Weitere Infos & Material
Multiplex Ligation-Dependent Probe Amplification (MLPA) for the Detection of Copy Number Mutations in the Gene.- Total RNA-seq as a Tool to Study 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.
