Search Results - "Imbach, Timo"

Improvement of Dolichol-linked Oligosaccharide Biosynthesis by the Squalene Synthase Inhibitor Zaragozic Acid by Haeuptle, Micha A., Welti, Michael, Troxler, Heinz, Hülsmeier, Andreas J., Imbach, Timo, Hennet, Thierry

“…The majority of congenital disorders of glycosylation (CDG) are caused by defects of dolichol (Dol)-linked oligosaccharide assembly, which lead to…”
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A Mutation in the Human Ortholog of the Saccharomyces cerevisiae ALG6 Gene Causes Carbohydrate-Deficient Glycoprotein Syndrome Type-Ic by Imbach, Timo, Burda, Patricie, Kuhnert, Peter, Wevers, Ron A., Aebi, Markus, Berger, Eric G., Hennet, Thierry

“…Carbohydrate-deficient glycoprotein syndrome (CDGS) represents a class of genetic diseases characterized by abnormal N-linked glycosylation. CDGS patients show…”
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MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If by Schenk, Barbara, Imbach, Timo, Frank, Christian G., Grubenmann, Claudia E., Raymond, Gerald V., Hurvitz, Haggit, Raas-Rotschild, Annick, Luder, Anthony S., Jaeken, Jaak, Berger, Eric G., Matthijs, Gert, Hennet, Thierry, Aebi, Markus

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Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie by Imbach, T, Schenk, B, Schollen, E, Burda, P, Stutz, A, Grunewald, S, Bailie, N M, King, M D, Jaeken, J, Matthijs, G, Berger, E G, Aebi, M, Hennet, T

“…Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndromes, lead to diseases with variable clinical pictures…”
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MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If by Schenk, B, Imbach, T, Frank, C G, Grubenmann, C E, Raymond, G V, Hurvitz, H, Korn-Lubetzki, I, Revel-Vik, S, Raas-Rotschild, A, Luder, A S, Jaeken, J, Berger, E G, Matthijs, G, Hennet, T, Aebi, M

“…Deficiencies in the pathway of N-glycan biosynthesis lead to severe multisystem diseases, known as congenital disorders of glycosylation (CDG). The clinical…”
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α1,3Fucosyltransferase VI is expressed in HepG2 cells and codistributed with β1,4galactosyltransferase I in the Golgi apparatus and monensin-induced swollen vesicles by Borsig, Lubor, Imbach, Timo, Höchli, Matthias, Berger, Eric G.

“…The major α1,3fucosyltransferase activity in plasma, liver, and kidney is related to fucosyltransferase VI which is encoded by the FUT6 gene. Here we…”
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Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic by IMBACH, T, GRÜNEWALD, S, AEBI, M, HENNET, T, SCHENK, B, BURDA, P, SCHOLLEN, E, WEVERS, R. A, JAEKEN, J, DE KLERK, J. B. C, BERGER, E. G, MATTHIJS, G

“…Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndrome, represent a family of genetic diseases with…”
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MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If by Schenk, Barbara, Imbach, Timo, Frank, Christian G., Grubenmann, Claudia E., Raymond, Gerald V., Hurvitz, Haggit, Raas-Rotschild, Annick, Luder, Anthony S., Jaeken, Jaak, Berger, Eric G., Matthijs, Gert, Hennet, Thierry, Aebi, Markus

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MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If by Schenk, B.

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1,3Fucosyltransferase VI is expressed in HepG2 cells and codistributed with  1,4galactosyltransferase I in the Golgi apparatus and monensin-induced swollen vesicles by Borsig, L., Imbach, T., Hochli, M., Berger, E. G.

“…The major [alpha]1,3fucosyltransferase activity in plasma, liver, and kidney is related to fucosyltransferase VI which is encoded by the FUT6 gene. Here we…”
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