Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I
- 1 March 2004
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 74 (3) , 545-551
- https://doi.org/10.1086/382493
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
- A New Type of Congenital Disorders of Glycosylation (CDG-Ii) Provides New Insights into the Early Steps of Dolichol-linked Oligosaccharide BiosynthesisJournal of Biological Chemistry, 2003
- Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type IgBiochemical Journal, 2002
- A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)Journal of Clinical Investigation, 2001
- N-glycosylation by transfer of GlcNAc2 from dolichol-PP-GlcNAc2 to the protein moiety of the major yeast exoglucanaseYeast, 1998
- Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.Journal of Clinical Investigation, 1998
- Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1AAmerican Journal of Human Genetics, 1998
- Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type IFEBS Letters, 1995
- The N‐oligosaccharyltransferase complex from yeastFEBS Letters, 1994
- Yeast mutants deficient in protein glycosylation.Proceedings of the National Academy of Sciences, 1983
- Solubilization and Characterization of the Initial Enzymes of the Dolichol Pathway from YeastEuropean Journal of Biochemistry, 1982