Congenital Disorders of Glycosylation: Diagnostic steps - ERNDIM

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Congenital Disorders of Glycosylation: Diagnostic steps - ERNDIM

Congenital Disorders of Glycosylation: Diagnostic steps - ERNDIM

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Option 4: Trafficking in the secretory pathway<br />

a. Indirect<br />

COG

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Option 4: Trafficking in the secretory pathway a. Indirect COG

Golgi defects Conserved Oligomeric Golgi (COG) complex • Transport between Golgi vesicles Cutis laxa • ATPase defect influencing Golgi pH

Page 1 and 2: - N - Congenital Disorders of Glyco
Page 3 and 4: General principle of Congenital Dis
Page 5 and 6: Glycoprotein Function • Protein s
Page 7 and 8: Clinical aspects of Congenital Diso
Page 9 and 10: M M M M M M M M M Ii Fru-6-P Man-6-
Page 11 and 12: Nomenclature changes in CDG • 199
Page 13 and 14: Transferrin protein polymorphism La
Page 15 and 16: Escape of the CDG-I vs CDG-II class
Page 17 and 18: Stage 2: CDG-II diagnostic work-up
Page 19 and 20: Glycan types • N-glycosylation: a
Page 21 and 22: Isoelectric focusing of serum apoli
Page 23: Exit Exit Options for a combined N+
Page 27 and 28: Model of COG complex X cog2 2 cog7
Page 29 and 30: ATP6V0A2 and glycosylation? •