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1. Introduction
2. Duchenne muscular dystrophy (DMD) (1)
3. Duchenne muscular dystrophy (DMD) (2)
4. Characteristics of dystrophic muscle
5. Becker muscular dystrophy (BMD)
6. Affected femails
7. The dystrophin gene
8. Dystrophin structure
9. Dystrophin isoforms
10. Dystrophin (1)
11. Dystrophin (2)
12. The dystrophin-glycoprotein complex
13. Dystrophin associated proteins in MDs
14. Molecular basis of DMD/BMD
15. DMD vs. BMD
16. Animal models for DMD
17. Potential approaches to a therapy for DMD
18. Potential for gene therapy of DMD
19. Strategies for development of DMD gene therapy
20. Viral gene transfer to muscle
21. Adeno-associated viruses (AVV)
22. Development of functional micro-dystrophins
23. Predicted structure/function of truncated dystrophin
24. Assembly of dystrophin-complex by micro-dys
25. Microdystrophin-AVV vectors
26. Co-transfection of transfer and helper plasmids
27. How can a gene be transferred to all muscle cells?
28. Systemic gene transfer to mouse muscles
29. Dystrophin injected mouse muscles
30. Long-term gene expression after AVV delivery (1)
31. Long-term gene expression after AVV delivery (2)
32. Dystrophin/utrophin -/- mice (mdx:utrn -/-)
33. Appearance of mdx vs. mdx:utrn -/- (dko) mice
34. Quadriceps histopathology in mdx vs. dko mice
35. Immunostaing 1 year after dystrophin injection
36. Treated dko mice exhibit increased muscle mass
37. Muscle function - diaphragm
38. Mortality and body mass: mdx:utrn -/-
39. Transplicing AVV vectors for larger proteins
40. Transcript modification using anti-sense oligos
41. Exon skipping via direct delivery
42. Multiple approaches for gene therapy of MDs
43. References

Topics Covered

• Introduction to duchenne muscular dystrophy (DMD)
• Dystrophin, the gene product of the DMD locus
• Structure of dystrophin
• The dystrophin glycoprotein complex
• Gene therapy for DMD
• Adeno-associated viral (AAV) vectors
• Mini- and micro-dystrophins
• Delivery of AAV vectors to muscles body-wide
• Gene therapy of muscular dystrophy in mouse models using AAV
• Alternative approaches to gene therapy of DMD

Links

Series:

• Protein Epidemiology

Categories:

• Biochemistry
• Cell Biology
• Clinical Practice

Therapeutic Areas:

• Cardiovascular & Metabolic
• Neurology

Talk Citation

Publication History

• Published on October 1, 2007

Financial Disclosures

• Prof. Jeff Chamberlain has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.