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Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?
| Content Provider | Semantic Scholar |
|---|---|
| Author | Powell, Leland D. Paneerselvam, K. Díaz, Santiago Manzi, Adriana Buist, Neil R. M. Freeze, Hudson H. Varki, Ajit |
| Copyright Year | 1994 |
| Abstract | The carbohydrate-deficient glycoprotein syndrome (CDGS) is a developmental disease associated with an abnormally high isoelectric point of serum transferrin. Carbohydrate analyses of this glycoprotein initially suggested a defect in N-linked oligosaccharide processing, although more recent studies indicate a defect in the attachment of these sugar chains to the protein. We studied both serum glycoproteins and fibroblast-derived [2-3H]mannose-labeled oligosaccharides from CDGS patients and normal controls. While there was a decrease in the glycosylation of serum glycoproteins of affected individuals, differences were not seen in either monosaccharide composition or oligosaccharide structures. The lectin-binding profiles of glycopeptides from [2-3H]-mannose-labeled fibroblasts were likewise indistinguishable. However, the incorporation of [2-3H]mannose into both glycoproteins and the dolichol-linked oligosaccharide precursor was significantly reduced. Thus, at least in some patients, CDGS is not due to a defect in processing of N-linked oligosaccharides, but rather to defective synthesis and transfer of nascent dolichol-linked oligosaccharide precursors. This abnormality could result in both a failure to glycosylate some sites on some proteins, as well as secondary abnormalities in overall glycoprotein processing and/or function. |
| File Format | PDF HTM / HTML |
| DOI | 10.1172/JCI117540 |
| PubMed reference number | 7962535 |
| Journal | Medline |
| Volume Number | 94 |
| Issue Number | 5 |
| Alternate Webpage(s) | http://cmm.ucsd.edu/varki/varkilab/Publications/A70.pdf |
| Alternate Webpage(s) | http://dm5migu4zj3pb.cloudfront.net/manuscripts/117000/117540/JCI94117540.pdf |
| Alternate Webpage(s) | https://doi.org/10.1172/JCI117540 |
| Journal | The Journal of clinical investigation |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |