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Navigable Slide Index

1. Introduction
2. Summary (1)
3. Intracellular protein trafficking
4. Intracellular vesicle traffic
5. Clinical syndromes with abnormal trafficking
6. Intracellular trafficking model
7. George Palade (1912-2008)
8. Nobel lecture of George Palade
9. Christian De Duve (1917-2013)
10. Stuart Kornfeld
11. James Rothman
12. Randy Schekman
13. Intracellular trafficking machinery
14. Cargo recruitment and vesicle biogenesis
15. Disorders of vesicle biogenesis
16. Defects in Rabs and Rab-associated proteins
17. Rab cycle
18. Rab associated disorders
19. Cytoskeleton and associated proteins
20. Dynamic microtubules
21. Mitochondria trafficked along microtubules
22. Disorders of cytoskeletal traffic
23. Kinesin movement along microtubules
24. Vesicular tethering and fusion
25. SNAREs and membrane fusion
26. Disorders of defective vesicle fusion
27. ARC syndrome
28. ARC syndrome - liver damage
29. ARC syndrome - kidney damage
30. ARC platelets – a-granule defect
31. Osteopenia, fractures, skin laxity
32. VPS33B and VIPAR
33. Intracellular localisation of VIPAR/VPS33B
34. Cell model of ARC
35. Reduced expression of E-cadherin in kd cells
36. Transcriptional downregulation effect on E-cadherin
37. Zebrafish model of ARC syndrome
38. E-cadherin in human and zf VIPAR deficiency
39. Conclusions: ARC syndrome
40. Summary (2)

Topics Covered

• Concepts and pathways in intracellular trafficking
• Disorders affecting specific trafficking steps
• Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome
• ARC syndrome as an example of a trafficking disorder

Links

Series:

• Molecular Genetics of Human Disease

Categories:

• Biochemistry
• Cell Biology
• Diseases, Disorders & Treatments
• Genetics & Epigenetics
• Metabolism & Nutrition

Therapeutic Areas:

• Cardiovascular & Metabolic

Talk Citation

Gissen, P. (2015, January 19). Traffic problems: inherited disease and intracellular trafficking defect [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved April 17, 2021, from https://hstalks.com/bs/2971/.

Publication History

• Published on January 19, 2015

Financial Disclosures

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