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- Introduction to Protein Structure and Function
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1. Nature’s strategies in the regulation of enzyme activity by modifiers
- Prof. Antonio Baici
- Creation of Protein Variability by Manipulation of Genes
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3. Perspectives on biological catalysis
- Prof. Stephen Benkovic
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4. Fundamentals and principles for engineering proteolytic activity
- Prof. Charles Craik
- Metabolic Diseases Caused by Genetic Mutation
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5. Modifications of pyruvate handling in health and disease
- Prof. Mary Sugden
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6. Mitochondrial fatty acid oxidation deficiencies
- Prof. Niels Gregersen
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7. Inborn errors of ketone body metabolism
- Prof. Toshiyuki Fukao
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8. Cathepsin K in bone and joint diseases
- Prof. Dieter Bromme
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9. Fabry disease: alfa-galactosidase A deficiency and enzyme replacement therapy
- Prof. David Warnock
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10. Acid beta-glucosidase/glucocerebrosidase (GCase)
- Prof. Gregory Grabowski
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11. GM2 gangliosidosis future treatments 1
- Prof. Brian Mark
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12. GM2 gangliosidosis future treatments 2
- Prof. Brian Mark
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13. The neuronal ceroid lipofuscinoses
- Prof. Sandra Hofmann
- Disorders of Blood Coagulation
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14. Advances in fibrinolysis
- Dr. Paul Kim
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16. Structure of thrombin, a Janus-headed proteinase
- Prof. Wolfram Bode
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18. Fibrinogen and factor XIII
- Prof. John Weisel
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19. Factor VIII and haemophilia A
- Dr. Geoffrey Kemball-Cook
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20. Factor IX
- Prof. Bruce Furie
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21. The biology and pathobiology of von Willebrand factor
- Prof. David Lillicrap
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22. Thrombotic thrombocytopenic purpura
- Prof. J. Evan Sadler
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23. Fibrinolysis
- Prof. Edward Tuddenham
- Other Molecular and Metabolic Disorders
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24. Glucose-6-phosphate dehydrogenase deficiency
- Dr. Jane Leopold
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25. Cytochrome b5 reductase deficiency and hereditary methemoglobinemia
- Dr. Scott Reading
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26. Sickle cell disease
- Prof. Martin H. Steinberg
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27. Pyruvate kinase deficiency
- Prof. Alberto Zanella
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28. Heritable disorders of collagen
- Dr. Heather Yeowell
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29. Duchenne muscular dystrophy
- Prof. Jeff Chamberlain
- Archived Lectures *These may not cover the latest advances in the field
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30. Protein crystallography
- Prof. Michael James
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31. Regulation of blood coagulation by the serpin, antithrombin
- Prof. Steve Olson
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32. Rhodopsin and retinitis pigmentosa
- Dr. Shalesh Kaushal
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33. The physiology and pathology of coagulation factor XI
- Dr. David Gailani
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34. Cytochrome b5 reductase deficiency and hereditary methemoglobinemia
- Prof. Josef Prchal
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35. Metachromatic leukodystrophy
- Prof. Volkmar Gieselmann
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36. Serpins and serpinopathies
- Dr. James Whisstock
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38. Pleiotropic and epistatic genes in sickle cell anaemia
- Prof. Ronald Nagel
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39. Genetic disorders of carbonic anhydrases II and IV
- Prof. William Sly
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40. GM2 gangliosidoses
- Prof. Don Mahuran
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41. Kinetic analysis of protein activity
- Prof. Antonio Baici
Printable Handouts
Navigable Slide Index
- Introduction
- Fabry disease
- Metabolic defect - accumulation of GL-3
- GL-3 deposits in vascular endothelium
- Progression in affected males
- Inheritance
- Progression in affected females
- Multisystemic manifestations
- Angiokeratomas
- Corneal whorls
- Diagnosis of Fabry disease
- Differential diagnosis
- Classical presentation Fabry disease
- Classical presentation - MRI
- Classical presentation - kidney biopsy (1)
- Classical presentation - kidney biopsy (2)
- Zebra bodies
- Zebra bodies in EM
- Less severe presentation in an older brother
- Renal biopsy findings
- Involvement of tubules
- Zebra bodies in kidney glomerulus
- Heavy dense deposits in EM
- Fabry disease: affected females
- Foamy cytoplasmic inclusion
- Foamy cytoplasmic inclusion - higher power view
- Cardiac involvement (1)
- Cardiac involvement (2)
- Cardiac involvement (3)
- Summary of kidney pathology
- Treatment of Fabry disease with renal involvement
- Renal transplant
- Enzyme therapy in transplant
- End stage renal disease in Fabry
- Patient survival on dialysis
- Enzyme therapy in dialysis
- Enzyme replacement therapy - drugs
- ERT - trials
- Phase 3 - complete endothelial clearance
- GL-3 cleared from kidney
- ERT (1)
- ERT (2)
- Similarities of Fabry disease and diabetes
- Fabry and diabetic nephropathy - management
- Fabry disease - conclusions
Topics Covered
- Diagnosis of Fabry disease
- Metabolic defect: GL-3 accumulation
- Multi-systemic manifestations
- Case examples
- Kidney pathology in Fabry disease
- Enzyme therapy
- Dialysis and transplantation
- Analogy to diabetic nephropathy
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Warnock, D. (2007, October 1). Fabry disease: alfa-galactosidase A deficiency and enzyme replacement therapy [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 31, 2024, from https://doi.org/10.69645/IYBN9461.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. David Warnock has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
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