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1. Introduction
2. Orphan diseases
3. Congenital disorders of glycosylation
4. Some basic facts and definitions
5. The challenges of post-translational modification
6. Sugar-amino acid linkages of glycoproteins
7. N-glycosylation
8. Glycogenes
9. N-glycan synthesis is an extra-cellular event (1)
10. N-glycan synthesis is an extra-cellular event (2)
11. Glycoprotein functions
12. A typical protein bound N-linked glycan
13. Linear and branched isomers of a hexasaccharide
14. Jaeken-Stibler collaboration
15. 3-year-old CDG patient
16. Clinical features of CDG patients
17. Undersialylation of serum transferrin
18. Classification of CDGs using old nomenclature
19. Type I congenital disorders of glycosylation
20. Dolichol-linked precursor oligosaccharide (1)
21. Dolichol-linked precursor oligosaccharide (2)
22. Dolichol-linked precursor oligosaccharide (3)
23. En bloc transfer to protein
24. OST needs full Glc3Man9GlcNAc2 moiety to act
25. Serum transferrin in CDG type I patients
26. Isoelectric focusing (IEF) of serum transferrin
27. Dolichol-linked precursor oligosaccharide (4)
28. Dolichol-linked 14 monomer oligosaccharide
29. Mutations in the alg loci
30. Different CDG mutations
31. CDG-Ia
32. Oral mannose by-passes the CDG-Ib block
33. Type II congenital disorders of glycosylation
34. N-glycan processing
35. The Golgi is the main site of glycosilation
36. First CDG patient with an identified gene defect (1)
37. First CDG patient with an identified gene defect (2)
38. Congenital disorders of glycosylation type 2 (1)
39. N-glycan synthesis pathway in ER-Golgi
40. Congenital disorders of glycosylation type 2 (2)
41. N-glycan synthesis pathway in Golgi
42. Conserved oligomeric Golgi complex
43. A summary of the CDG mutations
44. Mice models for CDG mutations (1)
45. Mice models for CDG mutations (2)
46. Summary (Jaak Jaeken)
47. CDG genes discovered
48. Summary (Hudson Freeze)
49. Many thanks for your attention

Topics Covered

• Orphan diseases
• Post-translational modifications
• Definition of N-glycosylation
• The significance of the extra-cellular location of N-glycosylation
• Diagnosis and clinical features of patients with Congenital Disorders of Glycosylation (CDGs)
• The biochemical mechanisms of normal N-glycosylation
• Description of 47 mutations in the N-glycosylation pathway that result in CDG

Links

Series:

• Glycobiology

Categories:

• Biochemistry
• Cell Biology
• Clinical Practice
• Genetics & Epigenetics

Talk Citation

Publication History

• Published on November 27, 2012

Financial Disclosures

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