• 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
  2. Understanding protein variability through functional analysis of random mutagenesis

  • Prof. Andrew Kaplan
• 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
  15. Tissue factor and factor VII: initiation of blood coagulation

  • Dr. John McVey
• 36 min
  16. Structure of thrombin, a Janus-headed proteinase

  • Prof. Wolfram Bode
• 45 min
  17. The protein c-thrombomodulin mechanism: regulating multiple biological systems

  • Prof. Edward Conway
• 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
  37. Multiple acyl-CoA dehydrogenation deficiency: defects of electron transfer flavoproteins

  • Dr. Rikke Olsen
• 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

PDF

Navigable Slide Index

1. Introduction
2. Anatomy of the eye and retina
3. Retinal degenerations
4. Retinitis pigmentosa
5. Retinitis pigmentosa: symptoms
6. Retinitis pigmentosa: normal vs. P23H mutation
7. Rod photoreceptor
8. Protein conformational disorders (1)
9. Protein conformational disorders (2)
10. Model for disease
11. Why study mutant opsin?
12. Methods
13. 2D structure of rhodopsin
14. Phenotypes of class I
15. Class I mutants
16. Phenotypes of class II
17. Class II mutants
18. Phenotypes of class III
19. Class III mutants
20. P23H rhodopsin is misfolded
21. P23H opsin forms aggregates in cells
22. Pharmacological chaperones
23. Retinoid rescue of misfolded P23H
24. Localization of rescued P23H
25. Can small molecules slow retinal degeneration?
26. Treatment slow retinal degeneration in P23H mice
27. Treatment slows rod cell loss in P23H mice
28. Cones are also preserved
29. Conclusions
30. Acknowledgements

Topics Covered

• Anatomy of the eye and retina
• Retinal degenerations
• Retinitis pigmentosa
• Protein conformational disorders
• Model for disease
• The study of mutant opsin
• Structure of rhodopsin
• Phenotypes
• Class I, Class II and Class III mutants
• Pharmacological chaperones
• Can small molecules slow retinal degeneration in mouse models?

Links

Series:

• Protein Epidemiology

Categories:

• Biochemistry
• Cell Biology
• Clinical Practice

Therapeutic Areas:

• Ophthalmology

Talk Citation

Publication History

• Published on October 1, 2007
• Archived on June 8, 2016

Financial Disclosures

• Dr. Shalesh Kaushal has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.