Kranz, Christian and Denecke, Jonas and Lehle, Ludwig and Sohlbach, Kristina and Jeske, Stefanie and Meinhardt, Friedhelm and Rossi, Rainer and Gudowius, Sonja and Marquardt, Thorsten (2004) Congenital disorder of glycosylation type Ik (CDG-Ik): A defect of mannosyltransferase I. AMERICAN JOURNAL OF HUMAN GENETICS, 74 (3). pp. 545-551. ISSN 0002-9297, 1537-6605
Full text not available from this repository. (Request a copy)Abstract
This study describes the discovery of a new inherited disorder of glycosylation named "CDG-Ik." CDG-Ik ( congenital disorder of glycoslyation type Ik) is based on a defect of human mannosyltransferase I ( MT-I [MIM 605907]), an enzyme necessary for the elongation of dolichol-linked chitobiose during N-glycan biosynthesis. Mutations in semiconserved regions in the corresponding gene, HMT-1 ( yeast homologue, Alg1), in two patients caused drastically reduced enzyme activity, leading to a severe disease with death in early infancy. One patient had a homozygous point mutation (c.773C-->T, S258L), whereas the other patient was compound heterozygous for the mutations c. 773C-->T and c. 1025A-->C (E342P). Glycosylation and growth of Alg1-deficient PRY56 yeast cells, showing a temperature-sensitive phenotype, could be restored by the human wild-type allele, whereas only slight restoration was observed after transformation with the patients' alleles.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | ASPARAGINE-LINKED GLYCOSYLATION; YEAST MUTANTS DEFICIENT; PROTEIN GLYCOSYLATION; THERAPY; PATHWAY; CLONING; FUCOSE; |
| Subjects: | 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: | 27 Jul 2021 07:21 |
| Last Modified: | 27 Jul 2021 07:21 |
| URI: | https://pred.uni-regensburg.de/id/eprint/37892 |
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