Registration for a live webinar on 'Innovative Vaccines and Viral Pathogenesis: Insights from Recent Monkeypox Research' is now open.
See webinar details
This is a limited length demo talk; you may
login or
review methods of
obtaining more access.
- Introduction to Protein Structure and Function
-
40 min
1. Nature’s strategies in the regulation of enzyme activity by modifiers- Prof. Antonio Baici
- Creation of Protein Variability by Manipulation of Genes
-
28 min
-
48 min
3. Perspectives on biological catalysis- Prof. Stephen Benkovic
-
45 min
4. Fundamentals and principles for engineering proteolytic activity- Prof. Charles Craik
- Metabolic Diseases Caused by Genetic Mutation
-
36 min
5. Modifications of pyruvate handling in health and disease- Prof. Mary Sugden
-
29 min
6. Mitochondrial fatty acid oxidation deficiencies- Prof. Niels Gregersen
-
33 min
7. Inborn errors of ketone body metabolism- Prof. Toshiyuki Fukao
-
34 min
8. Cathepsin K in bone and joint diseases- Prof. Dieter Bromme
-
22 min
9. Fabry disease: alfa-galactosidase A deficiency and enzyme replacement therapy- Prof. David Warnock
-
47 min
10. Acid beta-glucosidase/glucocerebrosidase (GCase)- Prof. Gregory Grabowski
-
23 min
11. GM2 gangliosidosis future treatments 1- Prof. Brian Mark
-
19 min
12. GM2 gangliosidosis future treatments 2- Prof. Brian Mark
-
29 min
13. The neuronal ceroid lipofuscinoses- Prof. Sandra Hofmann
- Disorders of Blood Coagulation
-
24 min
14. Advances in fibrinolysis- Dr. Paul Kim
-
26 min
-
36 min
16. Structure of thrombin, a Janus-headed proteinase- Prof. Wolfram Bode
-
45 min
-
40 min
18. Fibrinogen and factor XIII- Prof. John Weisel
-
31 min
19. Factor VIII and haemophilia A- Dr. Geoffrey Kemball-Cook
-
34 min
20. Factor IX- Prof. Bruce Furie
-
42 min
21. The biology and pathobiology of von Willebrand factor- Prof. David Lillicrap
-
40 min
22. Thrombotic thrombocytopenic purpura- Prof. J. Evan Sadler
-
26 min
23. Fibrinolysis- Prof. Edward Tuddenham
- Other Molecular and Metabolic Disorders
-
45 min
24. Glucose-6-phosphate dehydrogenase deficiency- Dr. Jane Leopold
-
26 min
25. Cytochrome b5 reductase deficiency and hereditary methemoglobinemia- Dr. Scott Reading
-
50 min
26. Sickle cell disease- Prof. Martin H. Steinberg
-
40 min
27. Pyruvate kinase deficiency- Prof. Alberto Zanella
-
47 min
28. Heritable disorders of collagen- Dr. Heather Yeowell
-
40 min
29. Duchenne muscular dystrophy- Prof. Jeff Chamberlain
- Archived Lectures *These may not cover the latest advances in the field
-
33 min
30. Protein crystallography- Prof. Michael James
-
48 min
31. Regulation of blood coagulation by the serpin, antithrombin- Prof. Steve Olson
-
37 min
32. Rhodopsin and retinitis pigmentosa- Dr. Shalesh Kaushal
-
40 min
33. The physiology and pathology of coagulation factor XI- Dr. David Gailani
-
24 min
34. Cytochrome b5 reductase deficiency and hereditary methemoglobinemia- Prof. Josef Prchal
-
49 min
35. Metachromatic leukodystrophy- Prof. Volkmar Gieselmann
-
21 min
36. Serpins and serpinopathies- Dr. James Whisstock
-
27 min
-
39 min
38. Pleiotropic and epistatic genes in sickle cell anaemia- Prof. Ronald Nagel
-
44 min
39. Genetic disorders of carbonic anhydrases II and IV- Prof. William Sly
-
39 min
40. GM2 gangliosidoses- Prof. Don Mahuran
-
48 min
41. Kinetic analysis of protein activity- Prof. Antonio Baici
Printable Handouts
Navigable Slide Index
- Introduction
- Duchenne muscular dystrophy (DMD) (1)
- Duchenne muscular dystrophy (DMD) (2)
- Characteristics of dystrophic muscle
- Becker muscular dystrophy (BMD)
- Affected femails
- The dystrophin gene
- Dystrophin structure
- Dystrophin isoforms
- Dystrophin (1)
- Dystrophin (2)
- The dystrophin-glycoprotein complex
- Dystrophin associated proteins in MDs
- Molecular basis of DMD/BMD
- DMD vs. BMD
- Animal models for DMD
- Potential approaches to a therapy for DMD
- Potential for gene therapy of DMD
- Strategies for development of DMD gene therapy
- Viral gene transfer to muscle
- Adeno-associated viruses (AVV)
- Development of functional micro-dystrophins
- Predicted structure/function of truncated dystrophin
- Assembly of dystrophin-complex by micro-dys
- Microdystrophin-AVV vectors
- Co-transfection of transfer and helper plasmids
- How can a gene be transferred to all muscle cells?
- Systemic gene transfer to mouse muscles
- Dystrophin injected mouse muscles
- Long-term gene expression after AVV delivery (1)
- Long-term gene expression after AVV delivery (2)
- Dystrophin/utrophin -/- mice (mdx:utrn -/-)
- Appearance of mdx vs. mdx:utrn -/- (dko) mice
- Quadriceps histopathology in mdx vs. dko mice
- Immunostaing 1 year after dystrophin injection
- Treated dko mice exhibit increased muscle mass
- Muscle function - diaphragm
- Mortality and body mass: mdx:utrn -/-
- Transplicing AVV vectors for larger proteins
- Transcript modification using anti-sense oligos
- Exon skipping via direct delivery
- Multiple approaches for gene therapy of MDs
- 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:
Categories:
Therapeutic Areas:
Talk Citation
Chamberlain, J. (2007, October 1). Duchenne muscular dystrophy [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved November 1, 2024, from https://doi.org/10.69645/ORRY4669.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Jeff Chamberlain has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Duchenne muscular dystrophy
Published on October 1, 2007
40 min
