Replication of linear plasmids in bacteria
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- Introduction to Protein Structure and Function
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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
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28 min
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48 min
3. Perspectives on biological catalysis- Prof. Stephen Benkovic
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45 min
4. Fundamentals and principles for engineering proteolytic activity- Prof. Charles Craik
- Metabolic Diseases Caused by Genetic Mutation
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36 min
5. Modifications of pyruvate handling in health and disease- Prof. Mary Sugden
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29 min
6. Mitochondrial fatty acid oxidation deficiencies- Prof. Niels Gregersen
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33 min
7. Inborn errors of ketone body metabolism- Prof. Toshiyuki Fukao
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34 min
8. Cathepsin K in bone and joint diseases- Prof. Dieter Bromme
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22 min
9. Fabry disease: alfa-galactosidase A deficiency and enzyme replacement therapy- Prof. David Warnock
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47 min
10. Acid beta-glucosidase/glucocerebrosidase (GCase)- Prof. Gregory Grabowski
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23 min
11. GM2 gangliosidosis future treatments 1- Prof. Brian Mark
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19 min
12. GM2 gangliosidosis future treatments 2- Prof. Brian Mark
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29 min
13. The neuronal ceroid lipofuscinoses- Prof. Sandra Hofmann
- Disorders of Blood Coagulation
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24 min
14. Advances in fibrinolysis- Dr. Paul Kim
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26 min
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36 min
16. Structure of thrombin, a Janus-headed proteinase- Prof. Wolfram Bode
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45 min
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40 min
18. Fibrinogen and factor XIII- Prof. John Weisel
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31 min
19. Factor VIII and haemophilia A- Dr. Geoffrey Kemball-Cook
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34 min
20. Factor IX- Prof. Bruce Furie
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42 min
21. The biology and pathobiology of von Willebrand factor- Prof. David Lillicrap
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40 min
22. Thrombotic thrombocytopenic purpura- Prof. J. Evan Sadler
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26 min
23. Fibrinolysis- Prof. Edward Tuddenham
- Other Molecular and Metabolic Disorders
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45 min
24. Glucose-6-phosphate dehydrogenase deficiency- Dr. Jane Leopold
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26 min
25. Cytochrome b5 reductase deficiency and hereditary methemoglobinemia- Dr. Scott Reading
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50 min
26. Sickle cell disease- Prof. Martin H. Steinberg
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40 min
27. Pyruvate kinase deficiency- Prof. Alberto Zanella
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47 min
28. Heritable disorders of collagen- Dr. Heather Yeowell
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40 min
29. Duchenne muscular dystrophy- Prof. Jeff Chamberlain
- Archived Lectures *These may not cover the latest advances in the field
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33 min
30. Protein crystallography- Prof. Michael James
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48 min
31. Regulation of blood coagulation by the serpin, antithrombin- Prof. Steve Olson
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37 min
32. Rhodopsin and retinitis pigmentosa- Dr. Shalesh Kaushal
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40 min
33. The physiology and pathology of coagulation factor XI- Dr. David Gailani
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24 min
34. Cytochrome b5 reductase deficiency and hereditary methemoglobinemia- Prof. Josef Prchal
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49 min
35. Metachromatic leukodystrophy- Prof. Volkmar Gieselmann
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21 min
36. Serpins and serpinopathies- Dr. James Whisstock
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27 min
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39 min
38. Pleiotropic and epistatic genes in sickle cell anaemia- Prof. Ronald Nagel
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44 min
39. Genetic disorders of carbonic anhydrases II and IV- Prof. William Sly
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39 min
40. GM2 gangliosidoses- Prof. Don Mahuran
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48 min
41. Kinetic analysis of protein activity- Prof. Antonio Baici
Printable Handouts
Navigable Slide Index
- Introduction
- Outline
- MLD is a lysosomal storage disorder
- Degradation of sulfatide by ASA
- Myelin is a membrane of oligodendrocytes
- Demyelination is a pathology of MLD
- Patient suffering from MLD
- Handwriting of a MLD patient
- MLD is clinically heterogeneous
- Genetics of MLD
- Structure of the human ASA gene
- 3 mRNA generated from ASA gene
- Mutations in the human ASA gene
- Only three mutations are frequent
- Genotype-phenotype correlation in MLD
- ASA activity in fibroblasts
- Biochemical consequences of mutations
- Molecular explanations for complete activity loss
- Different types of mutations in ASA gene
- Structure of human ASA
- Many defective ASA are severely misfolded
- Molecular basis for residual ASA activity
- ASA dimers form octamers in the lysosome
- ASA forms octamers
- Pro 426 is involved in octamerization
- Consequences of Pro 426 for leucine substitution
- ASA pseudodeficiency
- Deficiency of ASA is not a proof for MLD
- Size of pseudodeficiency ASA
- Glycosylation sites in ASA pseudodeficiency
- Amount of pseudodeficiency ASA
- ASA mRNA species in pseudodeficiency
- Possible changes in mRNA species
- Structure of the ASA pseudodeficiency allele
- Diagnostic example
- Therapeutic trials in a mouse model
- Sulfatide storage in the brain of ASA deficient mice
- Sulfatide storage in glia and neurons
- Ultrastructure of storage material (1)
- Ultrastructure of storage material (2)
- ASA deficient mice do not demyelinate
- Acoustic ganglion degeneration
- Progressive neurologic symptoms
- Properties of ASA deficient mice
- Therapeutic trials in ASA knock out mice
- AAV5 ASA injections in ASA knock out mice
- Reduction of sulfatide storage after injections
- Functional improvements after injections
- Enzyme replacement studies
- Sulfatide reduction in kidney after ASA injection
- Sulfatide reduction in sciatic nerve
- CNS pathology after 4 weekly doses of ASA (1)
- CNS pathology after 4 weekly doses of ASA (2)
- Improvement of neurologic symptoms
- Summary
Topics Covered
- Metabolic defect in metachromatic leukodystrophy
- Genetics
- Genotype/phenotype correlations
- Biochemical consequences of selected mutations
- Diganostic problems due to arylsulfatase A pseudodeficiency
- Gene therapy and enzyme replacement trials in an animal model
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Gieselmann, V. (2007, October 1). Metachromatic leukodystrophy [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved April 23, 2024, from https://hstalks.com/bs/50/.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Volkmar Gieselmann has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
