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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
- Historical overview
- Biochemistry of the ETF/ ETF-QO side chain
- Biogenesis of ETF
- Biogenesis of ETF-QO
- Biochemical phenotype (1)
- Biochemical phenotype (2)
- Clinical phenotype
- The enzymatic defect (ETF/ ETF-QO) (1)
- Enzymatic defect (FAD-related) (1)
- Enzymatic defect (FAD-related) (2)
- The enzymatic defect (ETF/ ETF-QO) (2)
- The genetic defect
- Effect of mutations
- Effect of mutations: splice mutations
- Effect of mutations: PTC mutations
- Effect of mutations:missense mutations
- A temperature-sensitive missense mutation (1)
- A temperature-sensitive missense mutation (2)
- 3D localization of ETF missense mutations
- Genotype-phenotype relation (1)
- Genotype-phenotype relation (2)
- Diagnosis
Topics Covered
- Multiple acyl-CoA dehydrogenation deficiency (MADD)
- Glutaric aciduria type II (GAII)
- Electron transfer flavoprotein (ETF)
- ETF: ubiquinone oxidoreductase (ETF:QO)
- Biogenesis and function of electron transfer flavoproteins
- Genotype-phenotype relations
- Molecular genetic pathogenesis
- Treatment and diagnosis
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Olsen, R. (2007, October 1). Multiple acyl-CoA dehydrogenation deficiency: defects of electron transfer flavoproteins [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 31, 2024, from https://doi.org/10.69645/LWGH5509.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Rikke Olsen has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Multiple acyl-CoA dehydrogenation deficiency: defects of electron transfer flavoproteins
A selection of talks on Clinical Practice
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