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Printable Handouts
Navigable Slide Index
- Introduction
- Orphan diseases
- Congenital disorders of glycosylation
- Some basic facts and definitions
- The challenges of post-translational modification
- Sugar-amino acid linkages of glycoproteins
- N-glycosylation
- Glycogenes
- N-glycan synthesis is an extra-cellular event (1)
- N-glycan synthesis is an extra-cellular event (2)
- Glycoprotein functions
- A typical protein bound N-linked glycan
- Linear and branched isomers of a hexasaccharide
- Jaeken-Stibler collaboration
- 3-year-old CDG patient
- Clinical features of CDG patients
- Undersialylation of serum transferrin
- Classification of CDGs using old nomenclature
- Type I congenital disorders of glycosylation
- Dolichol-linked precursor oligosaccharide (1)
- Dolichol-linked precursor oligosaccharide (2)
- Dolichol-linked precursor oligosaccharide (3)
- En bloc transfer to protein
- OST needs full Glc3Man9GlcNAc2 moiety to act
- Serum transferrin in CDG type I patients
- Isoelectric focusing (IEF) of serum transferrin
- Dolichol-linked precursor oligosaccharide (4)
- Dolichol-linked 14 monomer oligosaccharide
- Mutations in the alg loci
- Different CDG mutations
- CDG-Ia
- Oral mannose by-passes the CDG-Ib block
- Type II congenital disorders of glycosylation
- N-glycan processing
- The Golgi is the main site of glycosilation
- First CDG patient with an identified gene defect (1)
- First CDG patient with an identified gene defect (2)
- Congenital disorders of glycosylation type 2 (1)
- N-glycan synthesis pathway in ER-Golgi
- Congenital disorders of glycosylation type 2 (2)
- N-glycan synthesis pathway in Golgi
- Conserved oligomeric Golgi complex
- A summary of the CDG mutations
- Mice models for CDG mutations (1)
- Mice models for CDG mutations (2)
- Summary (Jaak Jaeken)
- CDG genes discovered
- Summary (Hudson Freeze)
- 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
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Talk Citation
Schachter, H. (2012, November 27). Congenital disorders of N-glycosylation [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved November 21, 2024, from https://doi.org/10.69645/JTAL4626.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Harry Schachter has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.