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Results: 1-14 |
Results: 14
Congenital disorders of glycosylation: genetic model systems lead the way
Authors: Aebi, M Hennet, T
Citation: M. Aebi et T. Hennet, Congenital disorders of glycosylation: genetic model systems lead the way, TR CELL BIO, 11(3), 2001, pp. 136-141
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If
Authors: Schenk, B Imbach, T Frank, CG Grubenmann, CE Raymond, GV Hurvitz, H Raas-Rotschild, A Luder, AS Jaeken, J Berger, EG Matthijs, G Hennet, T Aebi, M
Citation: B. Schenk et al., MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If, J CLIN INV, 108(11), 2001, pp. 1687-1695
Cloning of a mouse beta 1,3 N-acetylglucosaminyltransferase GlcNAc(beta 1,3)Gal(beta 1,4)Glc-ceramide synthase gene encoding the key regulator of lacto-series glycolipid biosynthesis
Authors: Henion, TR Zhou, DP Wolfer, DP Jungalwala, FB Hennet, T
Citation: Tr. Henion et al., Cloning of a mouse beta 1,3 N-acetylglucosaminyltransferase GlcNAc(beta 1,3)Gal(beta 1,4)Glc-ceramide synthase gene encoding the key regulator of lacto-series glycolipid biosynthesis, J BIOL CHEM, 276(32), 2001, pp. 30261-30269
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG
Authors: Aebi, M Helenius, A Schenk, B Barone, R Fiumara, A Berger, EG Hennet, T Imbach, T Stutz, A Bjursell, C Uller, A Wahlstrom, JG Briones, P Cardo, E Clayton, P Winchester, B Cormier-Daire, V de Lonlay, P Cuer, M Dupre, T Seta, N de Koning, T Dorland, L de Loos, F Kupers, L Fabritz, L Hasilik, M Marquardt, T Niehues, R Freeze, H Grunewald, S Heykants, L Jaeken, J Matthijs, G Schollen, E Keir, G Kjaergaard, S Schwartz, M Skovby, F Klein, A Roussel, P Korner, C Lubke, T Thiel, C von Figura, K Koscielak, J Krasnewich, D Lehle, L Peters, V Raab, M Saether, O Schachter, H Van Schaftingen, E Verbert, A Vilaseca, A Wevers, R Yamashita, K
Citation: M. Aebi et al., Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG, GLYCOBIOLOG, 10(6), 2000, pp. III-V
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis
Authors: Grunewald, S Imbach, T Huijben, K Rubio-Gozalbo, ME Verrips, A de Klerk, JBC Stroink, H Andel, JFD Van Hove, JLK Wendel, U Matthijs, G Hennet, T Jaeken, J Wevers, RA
Citation: S. Grunewald et al., Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis, ANN NEUROL, 47(6), 2000, pp. 776-781
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
Authors: Imbach, T Grunewald, S Schenk, B Burda, P Schollen, E Wevers, RA Jaeken, J de Klerk, JBC Berger, EG Matthijs, G Aebi, M Hennet, T
Citation: T. Imbach et al., Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic, HUM GENET, 106(5), 2000, pp. 538-545
A beta-1,3-N-acetylglucosaminyltransferase with poly-N-acetyllactosamine synthase activity is structurally related to beta-1,3-galactosyltransferases(vol 96, pg 406, 1999)
Authors: Zhou, DP Dinter, A Gallego, RG Kamerling, JP Vliegenthart, JFG Berger, EG Hennet, T
Citation: Dp. Zhou et al., A beta-1,3-N-acetylglucosaminyltransferase with poly-N-acetyllactosamine synthase activity is structurally related to beta-1,3-galactosyltransferases(vol 96, pg 406, 1999), P NAS US, 97(21), 2000, pp. 11673-11675
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
Authors: Imbach, T Schenk, B Schollen, E Burda, P Stutz, A Grunewald, S Bailie, NM King, MD Jaeken, J Matthijs, G Berger, EG Aebi, M Hennet, T
Citation: T. Imbach et al., Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie, J CLIN INV, 105(2), 2000, pp. 233-239
The beta 1,3-galactosyltransferase beta 3GalT-V is a stage-specific embryonic antigen-3 (SSEA-3) synthase
Authors: Zhou, DP Henion, TR Jungalwala, FB Berger, EG Hennet, T
Citation: Dp. Zhou et al., The beta 1,3-galactosyltransferase beta 3GalT-V is a stage-specific embryonic antigen-3 (SSEA-3) synthase, J BIOL CHEM, 275(30), 2000, pp. 22631-22634
Secretion and purification of recombinant beta 1-4 galactosyltransferase from insect cells using pFmel-protA, a novel transposition-based Baculovirustransfer vector
Authors: Zhou, DP Malissard, M Berger, EG Hennet, T
Citation: Dp. Zhou et al., Secretion and purification of recombinant beta 1-4 galactosyltransferase from insect cells using pFmel-protA, a novel transposition-based Baculovirustransfer vector, ARCH BIOCH, 374(1), 2000, pp. 3-7
The remodeling of glycoconjugates in mice
Authors: Hennet, T Ellies, LG
Citation: T. Hennet et Lg. Ellies, The remodeling of glycoconjugates in mice, BBA-GEN SUB, 1473(1), 1999, pp. 123-136
A beta-1,3-N-acetylglucosaminyltransferase with poly-N-acetyllactosamine synthase activity is structurally related to beta-1,3-galactosyltransferases
Authors: Zhou, DP Dinter, A Gallego, RG Kamerling, JP Vliegenthart, JFG Berger, EG Hennet, T
Citation: Dp. Zhou et al., A beta-1,3-N-acetylglucosaminyltransferase with poly-N-acetyllactosamine synthase activity is structurally related to beta-1,3-galactosyltransferases, P NAS US, 96(2), 1999, pp. 406-411
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 genecauses carbohydrate-deficient glycoprotein syndrome type-Ic
Authors: Imbach, T Burda, P Kuhner, P Wevers, RA Aebi, M Berger, EG Hennet, T
Citation: T. Imbach et al., A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 genecauses carbohydrate-deficient glycoprotein syndrome type-Ic, P NAS US, 96(12), 1999, pp. 6982-6987
Molecular cloning of a human UDP-galactose: GlcNAc beta 1,3GalNAc beta 1,3galactosyltransferase gene encoding an O-linked core3-elongation enzyme
Authors: Zhou, DP Berger, EG Hennet, T
Citation: Dp. Zhou et al., Molecular cloning of a human UDP-galactose: GlcNAc beta 1,3GalNAc beta 1,3galactosyltransferase gene encoding an O-linked core3-elongation enzyme, EUR J BIOCH, 263(2), 1999, pp. 571-576
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