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Printable Handouts
Navigable Slide Index
- Introduction
- Summary (1)
- Intracellular protein trafficking
- Intracellular vesicle traffic
- Clinical syndromes with abnormal trafficking
- Intracellular trafficking model
- George Palade (1912-2008)
- Nobel lecture of George Palade
- Christian De Duve (1917-2013)
- Stuart Kornfeld
- James Rothman
- Randy Schekman
- Intracellular trafficking machinery
- Cargo recruitment and vesicle biogenesis
- Disorders of vesicle biogenesis
- Defects in Rabs and Rab-associated proteins
- Rab cycle
- Rab associated disorders
- Cytoskeleton and associated proteins
- Dynamic microtubules
- Mitochondria trafficked along microtubules
- Disorders of cytoskeletal traffic
- Kinesin movement along microtubules
- Vesicular tethering and fusion
- SNAREs and membrane fusion
- Disorders of defective vesicle fusion
- ARC syndrome
- ARC syndrome - liver damage
- ARC syndrome - kidney damage
- ARC platelets – a-granule defect
- Osteopenia, fractures, skin laxity
- VPS33B and VIPAR
- Intracellular localisation of VIPAR/VPS33B
- Cell model of ARC
- Reduced expression of E-cadherin in kd cells
- Transcriptional downregulation effect on E-cadherin
- Zebrafish model of ARC syndrome
- E-cadherin in human and zf VIPAR deficiency
- Conclusions: ARC syndrome
- 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:
Categories:
- Biochemistry
- Cell Biology
- Diseases, Disorders & Treatments
- Genetics & Epigenetics
- Metabolism & Nutrition
Therapeutic Areas:
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 January 24, 2021, from https://hstalks.com/bs/2971/.Publication History
Financial Disclosures
- Dr. Paul Gissen has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Traffic problems: inherited disease and intracellular trafficking defect
Published on January 19, 2015
29 min
Other Talks in the Series: Molecular Genetics of Human Disease
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