l-2-Hydroxyglutaric aciduria, a disorder of metabolite repair von Van Schaftingen, E, Rzem, R, Veiga-da-Cunha, M

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RNAi screening in glioma stem-like cells identifies PFKFB4 as a key molecule important for cancer cell survival von Goidts, V, Bageritz, J, Puccio, L, Nakata, S, Zapatka, M, Barbus, S, Toedt, G, Campos, B, Korshunov, A, Momma, S, Van Schaftingen, E, Reifenberger, G, Herold-Mende, C, Lichter, P, Radlwimmer, B

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Identification, cloning, and heterologous expression of a mammalian fructosamine-3-kinase von DELPIERRE, Ghislain, RIDER, Mark H, COLLARD, Francois, STROOBANT, Vincent, VANSTAPEL, Florent, SANTOS, Helena, VAN SCHAFTINGEN, Emile

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High frequency of cytolytic T lymphocytes directed against a tumor-specific mutated antigen detectable with HLA tetramers in the blood of a lung carcinoma patient with long surviva... von KARANIKAS, Vaios, COLAU, Didier, COULIE, Pierre G, BAURAIN, Jean-Francois, CHIARI, Rita, THONNARD, Joëlle, GUTIERREZ-ROELENS, Ilse, GOFFINET, Céline, VAN SCHAFTINGEN, Emile, WEYNANTS, Patrick, BOON, Thierry

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l-2-Hydroxyglutaric aciduria, a defect of metabolite repair von Rzem, R, Vincent, M.-F, Van Schaftingen, E, Veiga-da-Cunha, M

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Two new cases of serine deficiency disorders treated with l -serine von Brassier, A, Valayannopoulos, V, Bahi-Buisson, N, Wiame, Elsa, Hubert, L, Boddaert, N, Kaminska, A, Habarou, F, Desguerre, I, Van Schaftingen, E, Ottolenghi, C, de Lonlay, P

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Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I von Van Schaftingen, Emile, Jaeken, Jaak

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Heterogeneity in glucose sensitivity among pancreatic beta-cells is correlated to differences in glucose phosphorylation rather than glucose transport von Heimberg, H, Vos, A. de, Vandercammen, A, Schaftingen, E. van, Pipeleers, D, Schuit, F

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Mutations in the glucokinase regulatory protein gene in 2p23 in obese French caucasians von VEIGA-DA-CUNHA, M, DELPLANQUE, J, GILLAIN, A, BONTHRON, D. T, BOUTIN, P, VAN SCHAFTINGEN, E, FROGUEL, P

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The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase von Rzem, R., Van Schaftingen, E., Veiga-da-Cunha, M.

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A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: Novel avenues for biochemical and therapeutic studies von Kranendijk, M., Salomons, G.S., Gibson, K.M., Van Schaftingen, E., Jakobs, C., Struys, E.A.

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Effects of fructosamine-3-kinase deficiency on function and survival of mouse pancreatic islets after prolonged culture in high glucose or ribose concentrations von Pascal, S M A, Veiga-da-Cunha, M, Gilon, P, Van Schaftingen, E, Jonas, J C

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Pathway and regulation of erythritol formation in Leuconostoc oenos von Veiga-da-Cunha, M, Santos, H, Schaftingen, E. van

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A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases von de Lonlay, P, Seta, N, Barrot, S, Chabrol, B, Drouin, V, Gabriel, B M, Journel, H, Kretz, M, Laurent, J, Le Merrer, M, Leroy, A, Pedespan, D, Sarda, P, Villeneuve, N, Schmitz, J, van Schaftingen, E, Matthijs, G, Jaeken, J, Korner, C, Munnich, A, Saudubray, J M, Cormier-Daire, V

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The glucose-6-phosphatase system von van Schaftingen, Emile, Gerin, Isabelle

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ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan von Gerin, Isabelle, Ury, Benoît, Breloy, Isabelle, Bouchet-Seraphin, Céline, Bolsée, Jennifer, Halbout, Mathias, Graff, Julie, Vertommen, Didier, Muccioli, Giulio G., Seta, Nathalie, Cuisset, Jean-Marie, Dabaj, Ivana, Quijano-Roy, Susana, Grahn, Ammi, Van Schaftingen, Emile, Bommer, Guido T.

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Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation von Jaeken, Jaak, Matthijs, Gert, Saudubray, Jean-Marie, Dionisi-Vici, Carlo, Bertini, Enrico, de Lonlay, Pascale, Henri, Hugues, Carchon, Hubert, Schollen, Els, Van Schaftingen, Emile

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Variability in erythrocyte fructosamine 3-kinase activity in humans correlates with polymorphisms in the FN3K gene and impacts on haemoglobin glycation at specific sites von Delpierre, G, Veiga-da-Cunha, M, Vertommen, D, Buysschaert, M, Van Schaftingen, E

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Carbohydrate‐deficient glycoprotein syndrome: Beyond the screen von Fletcher, J. M., Matthijs, G., Jaeken, J., Van Schaftingen, E., Nelson, P.V.

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3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis von Jaeken, J, Detheux, M, Van Maldergem, L, Foulon, M, Carchon, H, Van Schaftingen, E

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