• 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. Overall strategy
3. Known epistatic effects
4. Kidney pathology in SCD
5. Panoply of transgenic mice
6. Gene expression induced by hypoxia
7. Kidney up-regulated genes
8. Renal disease epidemiology in SCD
9. Cytochrome P450-4a14
10. Hypoxia cascade in sickle kidney
11. Arginase II
12. Ameliorating cascade in sickle kidney
13. Conclusions
14. Cytologic features of renal medullary carcinoma
15. Gene regulation secondary to kidney hypoxia
16. Acute renal damage leading to control/healing
17. Panoply of transgenic mice
18. Data analysis
19. Cluster analysis
20. Clustering genes in hypoxia experiment
21. Genes expression in the heme oxygenase cluster
22. Gene behavior after 2 days of hypoxia
23. Gene behavior after 4 days of hypoxia
24. Present agenda
25. Effect of hypoxia on urine osmolarity in mice
26. Pathogenic event in sickle kidney: hypoxia
27. Hypoxia in-vivo under BOLD MRI
28. Effect of hypoxia on sickle kidney
29. Cluster I in the hypoxia experiment
30. Up-regulation cluster
31. Proximal convoluted tubules: anatomy
32. HO-1: mediators of oxidative stress
33. Glomerulus capillary wall
34. Glomerulus: anatomy
35. Normal vs. deficient glomerular filtration slits
36. Other mediators of oxidative stress
37. Pro-apoptotic genes: FADD
38. Regulating ion transport 1: lipocalins
39. Mesangial cells: schematic location
40. Mesangial cells
41. Maintaining cell structure
42. Tisuue repair
43. VEGF splice isoforms in glomerular podocytes
44. MMP9
45. HO-1 histopathology: C57 and NY1-33 sickle mice
46. HO-1 histopathology: cortex
47. HO-1 histopathology: glomeruli and tubules
48. Summary
49. Conclusions
50. Down-regulated genes
51. Down-regulated cluster (1)
52. Down-regulated cluster (2)
53. Sickle RBC adhesion effect on gene expression
54. Circulation of RBC in mesoappendix
55. Adhesion of RBC in post capillary venules
56. WBC adhesion
57. Cremaster muscle microcirculation
58. Entrapment of cells producing obstruction
59. Mesocecum
60. VWF and SCA
61. Endothelium with/without PAF - induction of VWF
62. SCA, VWF and shear stress
63. Sickle RBC-endothelial interactions
64. Up-regulated genes
65. Hypoxia - reoxigenation activates NF-kB
66. Up-regulation of alpha catenin
67. Beta-catenin, alpha-catenin and pakoglobin
68. Down-regulated genes
69. Conclusions
70. Summary
71. Red cell transport systems
72. Impaired NO-vasodilation in transgenic sickle mice
73. Effect of HbF on microvascular regulation
74. Shear stress enhances proteolysis of VWF

Topics Covered

• Determination of pleiotropic genes
• Search for polymorphic genes among the pleiotropic genes as candidates for epistasis
• Known epistatic effects
• Kidney pathology in sickle cell disease
• Renal disease epidemiology
• Panoply of transgenic mice
• Involvement of metabolic pathways in constitutive chronic kidney damage in Tx mice
• Hypoxia
• Mediators of oxidative stress
• Up and down regulated genes
• HO- 1 histopathology
• The effect of sickle red blood cell adhesion on gene expression in PAF pre-treated microcirculatory bed
• Von Willebrand factor (vWF) and sickle cell anemia
• vWF, shear stress and sickle cell anaemia
• Epistatic genes may open new therapeutic strategies for SS disease
• PAF induces the up-regulation of a number of genes that have the capacity of protecting the endothelium, stem cells and other hematopoetic precursors

Links

Series:

• Protein Epidemiology

Categories:

• Biochemistry
• Cell Biology
• Clinical Practice

Therapeutic Areas:

• Haematology

Talk Citation

Publication History

• Published on October 1, 2007
• Archived on February 25, 2021

Financial Disclosures

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