• 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. Importance of GCase and its role in disease
3. Target for molecular therapies
4. GCase structure and function
5. GBA1 locus
6. Chromosome 1 location of GBA1
7. GBA1 and pseudo-GBA1 region
8. GBA1 fine structure and exonic promoter elements
9. GBA1 and pseudo-GBA1 proximity and structure
10. GC synthetic and degradative pathways
11. Cellular synthesis and degradation of GC
12. Enzymology and cell biology of GCase
13. GCase synthesis and lysosomal targeting (1)
14. GCase synthesis and lysosomal targeting (2)
15. GCase synthesis in cells
16. GCase post-translational modifications
17. Co-localization of LAMP-2 and GCase
18. Role of LIMP-2 in trafficking of GCase to lysosome
19. GCase enzymology
20. Glycosphingolipid degradative pathway scheme
21. Basic properties of GCase
22. Basic parameters of GCase
23. The crystal structure of GCase
24. The GCase catalytic mechanism
25. Prosaposin structure
26. GCase and saposin C
27. Saposin C structure
28. The lysosomal inner membrane and GCase activity
29. GCase and Gaucher disease
30. Macrophages
31. GCase deficiency creates characteristic cell type
32. Pathogenesis of Gaucher disease
33. Gaucher disease: classical clinical variants
34. GCase gene and Gaucher disease mutant alleles
35. Gaucher disease associated "recombinant alleles"
36. Genotype/phenotype and molecular correlations
37. The crystal structure of GCase in Gaucher disease
38. Genotype/Phenotype and residual activity levels
39. Therapies for Gaucher disease
40. Macrophage mannose receptor
41. Gaucher disease enzyme therapy
42. GD1 enzyme therapy animation
43. Mechanisms of pharmacological chaperone effects
44. Summary (1)
45. Summary (2)

Topics Covered

• Properties of GCase: structure and function
• Enzymology and cell biology of GCase
• Requirements for GCase activity
• GCase and its role in Gaucher disease
• Genotype/Phenotype and molecular correlations
• Therapies for Gaucher disease (enzymes, genes, chaperones)

Links

Series:

• Protein Epidemiology

Categories:

• Biochemistry
• Cell Biology
• Clinical Practice

Talk Citation

Publication History

• Published on October 1, 2007
• Updated on July 27, 2016

Financial Disclosures

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