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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
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- Creation of Protein Variability by Manipulation of Genes
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3. Perspectives on biological catalysis
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4. Fundamentals and principles for engineering proteolytic activity
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- Metabolic Diseases Caused by Genetic Mutation
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5. Modifications of pyruvate handling in health and disease
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6. Mitochondrial fatty acid oxidation deficiencies
- Prof. Niels Gregersen
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7. Inborn errors of ketone body metabolism
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8. Cathepsin K in bone and joint diseases
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9. Fabry disease: alfa-galactosidase A deficiency and enzyme replacement therapy
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10. Acid beta-glucosidase/glucocerebrosidase (GCase)
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11. GM2 gangliosidosis future treatments 1
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12. GM2 gangliosidosis future treatments 2
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13. The neuronal ceroid lipofuscinoses
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- Disorders of Blood Coagulation
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14. Advances in fibrinolysis
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16. Structure of thrombin, a Janus-headed proteinase
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18. Fibrinogen and factor XIII
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19. Factor VIII and haemophilia A
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20. Factor IX
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21. The biology and pathobiology of von Willebrand factor
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22. Thrombotic thrombocytopenic purpura
- Prof. J. Evan Sadler
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23. Fibrinolysis
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- Other Molecular and Metabolic Disorders
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24. Glucose-6-phosphate dehydrogenase deficiency
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25. Cytochrome b5 reductase deficiency and hereditary methemoglobinemia
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26. Sickle cell disease
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27. Pyruvate kinase deficiency
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28. Heritable disorders of collagen
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29. Duchenne muscular dystrophy
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30. Protein crystallography
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31. Regulation of blood coagulation by the serpin, antithrombin
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32. Rhodopsin and retinitis pigmentosa
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33. The physiology and pathology of coagulation factor XI
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34. Cytochrome b5 reductase deficiency and hereditary methemoglobinemia
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35. Metachromatic leukodystrophy
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36. Serpins and serpinopathies
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38. Pleiotropic and epistatic genes in sickle cell anaemia
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39. Genetic disorders of carbonic anhydrases II and IV
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40. GM2 gangliosidoses
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41. Kinetic analysis of protein activity
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Printable Handouts
Navigable Slide Index
- Introduction
- Dr. Eric von-Willebrand
- Dr. von-Willebrand initial observations
- Diagnosis of von-Willebrand disease
- Bleeding risk in type 1 VWD
- Physiological role of von-Willebrand factor
- Second role for VWF in hemostasis
- Structural aspects of VWF
- Post translational modifications of VWF protein
- Mature VWF secretion
- VWF forms large multimeric arrays
- Final biosynthetic process step required for VWF
- Physiological proteolytic processing of VWF
- Von-Willebrand disease prevalence
- The 3 components of VWD diagnosis
- False/true negative bleeding history
- Von-Willebrand disease family history
- Laboratory diagnosis of VWD-blood count
- Screening hemostasis studies used in diagnosis
- Required laboratory tests for VWD
- Reference plasma - ABO matched?
- VWD classification (ISTH 1994)
- Type 3 von-Willebrand disease
- Genetics of type 3 VWD
- Type 3 von-Willebrand disease: null phenotype
- Type 3 VWD: 88 mutations reported
- Recurrent mutation: exon 18 2435deIC
- VWD classification: quantitative sub-types
- Types 2A and 2M of VWD
- VWF multimer analysis
- Type 2A VWD
- Pathogenic mechanisms for type 2A VWD
- Type 2A VWD DDAVP response
- Type 2B VWD: gain of function mutations
- Type 2B VWD: gain of platelet-dependent function
- Type 2B VWD: loss of platelet-dependent function
- Localization of VWD type 2B & 2M mutations
- Type 2N VWD
- Differential diagnosis for low FVIII levels
- Type 2N VWD: reduced FVIII binding
- Type 2N VWD: patterns of inheritance
- Type 1 VWD
- The debate over the definition of type 1 VWD
- Data from 123 type 1 VWD index cases
- VWF mutational analysis - study population
- Type 1 VWD - types of VWF mutation
- Candidate VWF mutations no. in each index case
- The genetic model underlying VWD
- Thank you
Topics Covered
- Primary hemostasis
- von Willebrand factor biochemistry and cell biology
- von Willebrand disease diagnostic criteria
- Molecular genetic pathology of type 3 vWD
- Molecular genetic pathology of type 2A, 2B, 2M and 2N vWD
- Mutational spectrum of type 1 vWD
Links
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Talk Citation
Lillicrap, D. (2021, January 19). The biology and pathobiology of von Willebrand factor [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved February 5, 2025, from https://doi.org/10.69645/XMUH6008.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. David Lillicrap has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Update Available
The speaker addresses developments since the publication of the original talk. We recommend listening to the associated update as well as the lecture.
- Full lecture Duration: 41:44 min
- Update Interview Duration: 15:47 min
A selection of talks on Haematology
Transcript
Please wait while the transcript is being prepared...
0:00
Welcome to this presentation on the biology and pathobiology of von Willebrand factor.
I'm David Lillicrap from the Department of Pathology and
Molecular Medicine at Queen's University in Kingston, Canada.
0:14
This is a picture of Dr. Erich von Willebrand,
a Finnish physician who practiced in the early part of the 20th century.
In 1926, Dr. von Willebrand described, for the first time,
the clinical features of a novel inherited bleeding disorder.
This condition now bears his name as 'von Willebrand disease'.
0:35
Dr. von Willebrand's initial observations were made in a group of
patients who resided in the Aland Islands in the Baltic Sea, shown on this slide.
In the middle group of islands,
you can see that the frequency of
von Willebrand disease was greater than 10 percent of the population.
It was amongst this group of patients that Dr. von Willebrand described a young girl who, in one of her first menstrual periods,
bled to death from severe and unrelenting menorrhagia.
1:05
Dr. von Willebrand's clinical observations in this initial group of patients
continue to form the keystone of the diagnosis of von Willebrand disease.
These patients present with a personal history of excessive mucocutaneous bleeding.
Patients with this condition often have easy, recurrent, and large bruising.
They will have episodes of prolonged and recurrent epistaxes,
and women with the condition will often be diagnosed with menorrhagia.
Bleeding from minor wounds is often persistent, and bleeding following
surgical and dental procedures is also prolonged and excessive.
Outside of the severe form of the disease
(that is, type 3 von Willebrand disease),
bleeding into joints, muscles,
and soft tissues appears to be exceedingly rare.
The relative risk (or odds ratio) for a number of