Körner, Christian and Knauer, Roland and Holzbach, Ulrike and Hanefeld, Folker and Lehle, Ludwig and von Figura, Kurt (1998) Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc : Man(9)GlcNAc(2)-PP-dolichyl glucosyltransferase. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 95 (22). pp. 13200-13205. ISSN 0027-8424
Full text not available from this repository.Abstract
Deficiency of dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichyl glucosyltransferase is the cause of an additional type of carbohydrate-deficient glycoprotein syndrome (CDGS type V), Clinically this type resembles the classical type Ia of CDGS caused by the deficiency of phosphomannomutase. As a result of the glucosyltransferase deficiency in CDGS type V nonglucosylated lipid-linked oligosaccharides accumulate. The defect is leaky and glucosylated oligosaccharides are found on nascent glycoproteins. The limited availability of glucosylated lipid-linked oligosaccharides explains the incomplete usage of N-glycosylation sites in glycoproteins. This finding is reflected in the presence of transferrin forms in serum that lack one or both of the two N-linked oligosaccharides and the reduction of mannose incorporation to about one-third of control in glycoproteins of fibroblasts.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | SYNDROME TYPE-II; OLIGOSACCHARIDE TRANSFER; GLYCOSYLATION; GLUCOSE; BIOSYNTHESIS; FIBROBLASTS; MUTATIONS; PROTEINS; LIPIDS; GOLGI |
| Subjects: | 500 Science > 570 Life sciences 500 Science > 580 Botanical sciences |
| Divisions: | Biology, Preclinical Medicine > Institut für Pflanzenwissenschaften > Lehrstuhl für Zellbiologie und Pflanzenphysiologie (Prof. Dr. Klaus Grasser) |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 10 Feb 2023 11:55 |
| Last Modified: | 10 Feb 2023 11:55 |
| URI: | https://pred.uni-regensburg.de/id/eprint/49426 |
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