UID:
almafu_9961427359702883
Format:
1 videorecording (31 min., 12 sec.) :
,
sound, color.
,
003112
Series Statement:
Henry Stewart talks
Note:
Retrieved April 15, 2024, from https://hstalks.com/bs/2432/.
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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.
Language:
English
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