Thiel, Christian and Schwarz, Markus and Hasilik, Martin and Grieben, Ulrike and Hanefeld, Folker and Lehle, Ludwig and von Figura, Kurt and Koerner, Christian (2002) Deficiency of dolichyl-P-Man: Man(7)GlcNAc(2)-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. BIOCHEMICAL JOURNAL, 367 (1). pp. 195-201. ISSN 0264-6021
Full text not available from this repository.Abstract
Deficiency of the endoplasmic reticulum enzyme dolichyl-phosphate mannose (Dol-P-Man): Man(7)GlcNAc(2)-PP-dolichyl mannosyltransferase leads to a new type of congenital disorder of glycosylation, designated type Ig. The patient 1 presented with a multisystemic disorder with microcephaly, developmental retardation, convulsions and dysmorphic signs. The isoelectric focusing pattern of the patient's serum transferrin showed the partial loss of complete N-glycan side chains. In skin fibroblasts from the patient, the activity of Dol-P-Man: Man(7)GlcNAc(2)-PP-Dol mannosyltransferase was severely reduced leading to the accumulation of Man(7)GlcNAc(2)-PP-Dol, which was transferred to newly synthesized glycoproteins. Sequencing of the Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol mannosyltransferase cDNA revealed a compound heterozygosity for two point mutations, leading to the exchange of leucine(158) for a proline residue and a premature translation stop with loss of the C-terminal 74 amino acids. The parents were heterozygous for one of the two mutations. Retroviral expression of the wild-type Dol-P-Man: Man(7)GlcNAc(2)-PP-Dol mannosyltransferase cDNA in patient's fibroblasts normalized the mannosyltransferase activity.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | GDP-FUCOSE TRANSPORTER; SYNDROME TYPE-II; GLYCOPROTEIN-SYNDROME; PHOSPHOMANNOMUTASE DEFICIENCY; SACCHAROMYCES-CEREVISIAE; LINKED OLIGOSACCHARIDES; GENE; MUTATIONS; BIOSYNTHESIS; COMPLEX; inherited disorder; mannosyltransferase; microcephaly; muscular hypotonia; N-glycosylation |
| 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: | 27 Aug 2021 06:17 |
| Last Modified: | 27 Aug 2021 06:17 |
| URI: | https://pred.uni-regensburg.de/id/eprint/39800 |
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