Abstract
In the carbohydrate deficient glycoprotein syndrome (CDGS) type 1 glycoproteins with less and shorter N-linked oligosaccharides are synthesized due to a deficiency of phosphomannomutase. Glucose deprivation or mannose addition are shown to partially or fully correct the size of oligosaccharides incorporated into lipid linked oligosaccharides and nascent glycoproteins in skin fibroblasts from CDGS type 1 patients with a phosphomannomutase defect. The corrective effect is ascribed to regulatory mechanisms and/or metabolic pathways that bypass phosphomannomutase.
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Jaeken J, Vanderschueren-Lodeweyck M, Casaer P, Snoeck L, Corbeel L, Eggermont E, Eeckels R (1980) Ped Res 14: 1970.
Jaeken J, Carchon H (1993) J Inher Metab Dis 16: 813–20.
Jaeken J, Carchon H, Stibler H (1993) Glycobiology 3: 423–8.
Jaeken J, Matthijs G, Barone R, Carchon H (1997) J Med Genet 34: 73–6.
Matthijs G, Leguis E, Schollen E, Vandenberk P, Jaeken J, Barone R, Fiumara A, Visser G, Lambert M, Cassiman JJ (1996) Genomics 35: 597–99.
Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, van Schaftingen E (1997) Nature Genetics 16: 88–92.
van Schaftingen E, Jaeken J (1995) FEBS Lett 377: 318–20.
Ohkura T, Fukushima K, Kurisaki A, Sagami H, Ogura K, Ohno K, Hara-Kuge S, Yamashita K (1997) J Biol Chem 272: 6868–75.
Koörner C, Lehle L, von Figura K (1997) Glycobiology: 8(2): 165–71.
Powell LD, Paneerselvam K, Vij R, Diaz S, Manzi A, Buist N, Freeze H, Varki A (1994) J Clin Invest 94: 1901–9.
Krasnewich DM, Holt GD, Brantly M, Skovby F, Redwine J, Gahl WA (1995) Glycobiology 5: 503–10.
Paneerselvam K, Freeze HH (1996) J Clin Invest 97: 1478–87.
Lehle L (1980) Eur J Biochem 190: 589–601.
Lowry O, Rosebrough N, Farr A, Randall R (1951) J Biol Chem 193: 265–75.
Gershman H, Robbins P (1981) J Biol Chem 256: 7774–80.
Yamashita K, Ideo H, Ohkura T, Fukushima K, Yuasa I, Ohno K, Takeshita K (1993) J Biol Chem 268: 5783–9.
Ogier-Denis E, Blais A, Houri JJ, Voisin T, Trugnau G, Codogno M (1994) J Biol Chem 269: 4285–90.
Pannerselvam K, Freeze HH (1996) J Biol Chem 271: 9417–21.
Varki A (1991) FASEB J 228: 226–35.
Turco SJ (1980) Arch Biochem Biophys 205: 330–9.
Rearick JI, Chapman A, Kornfeld S (1981) J Biol Chem 256: 6255–61.
Calhoun IV, JC, Chapman AE (1988) Arch Biochem Biophys 260: 320–33.
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Korner, C., Lehle, L. & von Figura, K. Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose. Glycoconj J 15, 499–505 (1998). https://doi.org/10.1023/A:1006939104442
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DOI: https://doi.org/10.1023/A:1006939104442