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ArticlesPeer ReviewedFull Text
l-2-Hydroxyglutaric aciduria, a disorder of metabolite repair
Author / Creator:Van Schaftingen, E ; Rzem, R ; Veiga-da-Cunha, M
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2009-04, Vol.32 (2), p.135-142
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RNAi screening in glioma stem-like cells identifies PFKFB4 as a key molecule important for cancer cell survival
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Oncogene, 2012-07, Vol.31 (27), p.3235-3243
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Mutations in the glucokinase regulatory protein gene in 2p23 in obese French caucasians
Author / Creator:VEIGA-DA-CUNHA, M ; DELPLANQUE, J ; GILLAIN, A ; BONTHRON, D. T ; BOUTIN, P ; VAN SCHAFTINGEN, E ; FROGUEL, P
Publisher:Berlin: Springer
Journal title:Diabetologia, 2003-05, Vol.46 (5), p.704-711
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l-2-Hydroxyglutaric aciduria, a defect of metabolite repair
Author / Creator:Rzem, R ; Vincent, M.-F ; Van Schaftingen, E ; Veiga-da-Cunha, M
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.681-689
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Carbohydrate‐deficient glycoprotein syndrome: Beyond the screen
Author / Creator:Fletcher, J. M. ; Matthijs, G. ; Jaeken, J. ; Van Schaftingen, E. ; Nelson, P.V.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2000-06, Vol.23 (4), p.396-398
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Identification, cloning, and heterologous expression of a mammalian fructosamine-3-kinase
Author / Creator:DELPIERRE, Ghislain ; RIDER, Mark H ; COLLARD, Francois ; STROOBANT, Vincent ; VANSTAPEL, Florent ; SANTOS, Helena ; VAN SCHAFTINGEN, Emile
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes (New York, N.Y.), 2000-10, Vol.49 (10), p.1627-1634
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A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
Author / Creator: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
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2001-01, Vol.38 (1), p.14-19
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The Glucose Sensor Protein Glucokinase is Expressed in Glucagon-Producing α -Cells
Author / Creator:Heimberg, Harry ; De Vos, Anick ; Moens, Karen ; Quartier, Erik ; Bouwens, Luc ; Pipeleers, Danny ; Van Schaftingen, Emile ; Madsen, Ole ; Schuit, Frans
Publisher:United States: National Academy of Sciences of the United States of America
Journal title:Proceedings of the National Academy of Sciences - PNAS, 1996-07, Vol.93 (14), p.7036-7041
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Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia
Author / Creator:Briones, P. ; Vilaseca, M. A. ; Schollen, E. ; Ferrer, I. ; Maties, M. ; Busquets, C. ; Artuch, R. ; Gort, L. ; Marco, M. ; Schaftingen, E. ; Matthijs, G. ; Jaeken, J. ; Chabás, A.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2003-02, Vol.25 (8), p.635-646
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Study of the regulatory properties of glucokinase by site-directed mutagenesis: conversion of glucokinase to an enzyme with high affinity for glucose
Author / Creator:MOUKIL, M. A ; VEIGA-DA-CUNHA, M ; VAN SCHAFTINGEN, E
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes (New York, N.Y.), 2000-02, Vol.49 (2), p.195-201
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Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
Author / Creator:Tegtmeyer, Laura C ; Rust, Stephan ; van Scherpenzeel, Monique ; Ng, Bobby G ; Losfeld, Marie-Estelle ; Timal, Sharita ; Raymond, Kimiyo ; He, Ping ; Ichikawa, Mie ; Veltman, Joris ; Huijben, Karin ; Shin, Yoon S ; Sharma, Vandana ; Adamowicz, Maciej ; Lammens, Martin ; Reunert, Janine ; Witten, Anika ; Schrapers, Esther ; Matthijs, Gert ; Jaeken, Jaak ; Rymen, Daisy ; Stojkovic, Tanya ; Laforêt, Pascal ; Petit, François ; Aumaître, Olivier ; Czarnowska, Elzbieta ; Piraud, Monique ; Podskarbi, Teodor ; Stanley, Charles A ; Matalon, Reuben ; Burda, Patricie ; Seyyedi, Soraya ; Debus, Volker ; Socha, Piotr ; Sykut-Cegielska, Jolanta ; van Spronsen, Francjan ; de Meirleir, Linda ; Vajro, Pietro ; DeClue, Terry ; Ficicioglu, Can ; Wada, Yoshinao ; Wevers, Ron A ; Vanderschaeghe, Dieter ; Callewaert, Nico ; Fingerhut, Ralph ; van Schaftingen, Emile ; Freeze, Hudson H ; Morava, Eva ; Lefeber, Dirk J ; Marquardt, Thorsten
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2014-02, Vol.370 (6), p.533-542
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ArticlesPeer ReviewedFull Text
ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan
Author / Creator: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.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2016-05, Vol.7 (1), p.11534-11534, Article 11534
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ArticlesPeer ReviewedFull Text
Inhibition of fructose-1,6-bisphosphatase by fructose 2,6-biphosphate
Author / Creator:Van Schaftingen, E ; Hers, H G
Publisher:United States: National Acad Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 1981-05, Vol.78 (5), p.2861-2863
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Transferrin protein variant mimicking carbohydrate‐deficient glycoprotein syndrome in trisomy 7 mosaicism
Author / Creator:Knopf, C. ; Rod, R. ; Jaeken, J. ; Berant, M. ; Van Schaftingen, E. ; Fryns, J. P. ; Brill‐Zamir, R. ; Gershoni‐Baruch, R. ; Lischinsky, S. ; Mandel, H.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2000-06, Vol.23 (4), p.399-403
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ArticlesPeer ReviewedFull Text
A Gene Encoding a Putative FAD-Dependent L-2-Hydroxyglutarate Dehydrogenase Is Mutated in L-2-Hydroxyglutaric Aciduria
Author / Creator:Rzem, Rim ; Maria Veiga-da-Cunha ; Noël, Gaëtane ; Goffette, Sophie ; Nassogne, Marie-Cécile ; Tabarki, Brahim ; Schöller, Christina ; Marquardt, Thorsten ; Vikkula, Miikka ; van Schaftingen, Emile ; Beavo, Joseph A.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2004-11, Vol.101 (48), p.16849-16854
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Control of Liver 6-Phosphofructokinase by Fructose 2,6-bisphosphate and Other Effectors
Author / Creator:Van Schaftingen, Emile ; Jett, Mary-Frances ; Hue, Louis ; Hers, Henri-Géry
Publisher:United States: National Academy of Sciences of the United States of America
Journal title:Proceedings of the National Academy of Sciences - PNAS, 1981-06, Vol.78 (6), p.3483-3486
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3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis
Author / Creator:Jaeken, J ; Detheux, M ; Van Maldergem, L ; Foulon, M ; Carchon, H ; Van Schaftingen, E
Publisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 1996-06, Vol.74 (6), p.542-545
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A Mammalian Protein Homologous to Fructosamine-3-Kinase Is a Ketosamine-3-Kinase Acting on Psicosamines and Ribulosamines but not on Fructosamines
Author / Creator:COLLARD, Francois ; DELPIERRE, Ghislain ; STROOBANT, Vincent ; MATTHOS, Gert ; VAN SCHAFTINGEN, Emile
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes (New York, N.Y.), 2003-12, Vol.52 (12), p.2888-2895
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Fructose 2,6-bisphosphate hydrolyzing enzymes in higher plants
Author / Creator:Yvan Larondelle ; Emmanuel Mertens ; Van Schaftingen, Emile ; Hers, Henri-Géry
Publisher:Rockville, MD: American Society of Plant Physiologists
Journal title:Plant physiology (Bethesda), 1989-07, Vol.90 (3), p.827-834
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The 2,3-bisphosphoglycerate-independent phosphoglycerate mutase from Trypanosoma brucei: metal-ion dependency and phosphoenzyme formation
Author / Creator:Collet, Jean-François ; Stroobant, Vincent ; Van Schaftingen, Emile
Publisher:Elsevier B.V
Journal title:FEMS microbiology letters, 2001-10, Vol.204 (1), p.39-44
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Showing 1 to 20 of 34 results

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l-2-Hydroxyglutaric aciduria, a disorder of metabolite repair

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RNAi screening in glioma stem-like cells identifies PFKFB4 as a key molecule important for cancer cell survival

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Mutations in the glucokinase regulatory protein gene in 2p23 in obese French caucasians

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l-2-Hydroxyglutaric aciduria, a defect of metabolite repair

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Carbohydrate‐deficient glycoprotein syndrome: Beyond the screen

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Identification, cloning, and heterologous expression of a mammalian fructosamine-3-kinase

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A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

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The Glucose Sensor Protein Glucokinase is Expressed in Glucagon-Producing α -Cells

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Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia

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Study of the regulatory properties of glucokinase by site-directed mutagenesis: conversion of glucokinase to an enzyme with high affinity for glucose

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Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

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ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

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Inhibition of fructose-1,6-bisphosphatase by fructose 2,6-biphosphate

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Transferrin protein variant mimicking carbohydrate‐deficient glycoprotein syndrome in trisomy 7 mosaicism

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A Gene Encoding a Putative FAD-Dependent L-2-Hydroxyglutarate Dehydrogenase Is Mutated in L-2-Hydroxyglutaric Aciduria

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Control of Liver 6-Phosphofructokinase by Fructose 2,6-bisphosphate and Other Effectors

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3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis

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A Mammalian Protein Homologous to Fructosamine-3-Kinase Is a Ketosamine-3-Kinase Acting on Psicosamines and Ribulosamines but not on Fructosamines

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Fructose 2,6-bisphosphate hydrolyzing enzymes in higher plants

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The 2,3-bisphosphoglycerate-independent phosphoglycerate mutase from Trypanosoma brucei: metal-ion dependency and phosphoenzyme formation

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