Emile is a physician by training, but while still a medical student more than 45 years ago, he fell in love with enzymes of intermediary metabolism and still has a passion for them. Except for a post-doc stay at the NIH, in Bethesda, he developed his career at the institute created by Nobel prize Christian de Duve, at the Université Catholique de Louvain. His contributions have been mostly on the regulation of glycolysis and gluconeogenesis (discovery of fructose-2,6-bisphosphate, of glucokinase regulatory protein), on identifying ‘new’ enzymes in intermediary metabolism, and on identifying the metabolic defects in unsolved or “new” inborn errors of metabolism. This led him to draw the attention of the scientific community to an underestimated problem in enzymology : the fact that enzymes make much more catalytic mistakes than usually assumed and that, hopefully, we have a whole bunch of enzymes serving to eliminate unwanted side-products.

Selected publications:

Boulanger, C., Stephenne, X., Diederich, J., Mounkoro, P., Chevalier, N., Ferster, A., Van Schaftingen, E., and Veiga-da-Cunha, M. (2022). Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5. J Inherit Metab Dis 45, 759-768.

Heremans, I.P., Caligiore, F., Gerin, I., Bury, M., Lutz, M., Graff, J., Stroobant, V., Vertommen, D., Teleman, A.A., Van Schaftingen, E., and Bommer, G.T. (2022). Parkinson's disease protein PARK7 prevents metabolite and protein damage caused by a glycolytic metabolite. Proc Natl Acad Sci U S A 119, e2111338119.

Muffels, I.J.J., Wiame, E., Fuchs, S.A., Massink, M.P.G., Rehmann, H., Musch, J.L.I., Van Haaften, G., Vertommen, D., van Schaftingen, E., van Hasselt, P.M. (2021)NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay. Brain Commun 3, fcab256.

Dewulf, J.P., Paquay, S., Marbaix, E., Achouri, Y., Van Schaftingen, E., and Bommer, G.T. (2021). ECHDC1 knockout mice accumulate ethyl-branched lipids and excrete abnormal intermediates of branched-chain fatty acid metabolism. J Biol Chem 297, 101083.

Morava, E., Schatz, U.A., Torring, P.M., Abbott, M.A., Baumann, M., Brasch-Andersen, C., Chevalier, N., Dunkhase-Heinl, U., Fleger, M., Haack, T.B., Nelson, S., Potelle, S., Radenkovic, S., Bommer, G.T., Van Schaftingen, E., and Veiga-da-Cunha, M. (2021). Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder. Am J Hum Genet 108, 1151-1160.

Kentache, T., Thabault, L., Deumer, G., Haufroid, V., Frederick, R., Linster, C.L., Peracchi, A., Veiga-da-Cunha, M., Bommer, G.T., and Van Schaftingen, E. (2021). The metalloprotein YhcH is an anomerase providing N-acetylneuraminate aldolase with the open form of its substrate. J Biol Chem 296, 100699.

Kentache, T., Thabault, L., Peracchi, A., Frédérick, R., Bommer, G.T., Van Schaftingen, E. (2020 The putative Escherichia coli dehydrogenase YjhC metabolises two dehydrated forms of N-acetylneuraminate produced by some sialidases. Biosci Rep 40, BSR20200927.

Wortmann, S.B., Van Hove, J.L.K., Derks, T.G.J., Chevalier, N., Knight, V., Koller, A., Oussoren, E., Mayr, J.A., van Spronsen, F.J., Lagler, F.B., Gaughan, S., Van Schaftingen, E., and Veiga-da-Cunha, M. (2020). Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor. Blood 136, 1033-1043.

Bommer, G.T., Van Schaftingen, E., and Veiga-da-Cunha, M. (2020). Metabolite Repair Enzymes Control Metabolic Damage in Glycolysis. Trends Biochem Sci 45, 228-243.

Veiga-da-Cunha, M., Van Schaftingen, E., and Bommer, G.T. (2020). Inborn errors of metabolite repair. J Inherit Metab Dis 43, 14-24.

Dewulf, J.P., Gerin, I., Rider, M.H., Veiga-da-Cunha, M., Van Schaftingen, E., and Bommer, G.T. (2019). The synthesis of branched-chain fatty acids is limited by enzymatic decarboxylation of ethyl- and methylmalonyl-CoA. Biochem J 476, 2427-2447.

Veiga-da-Cunha, M., Chevalier, N., Stephenne, X., Defour, J.P., Paczia, N., Ferster, A., Achouri, Y., Dewulf, J.P., Linster, C.L., Bommer, G.T., and Van Schaftingen, E. (2019). Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency. Proc Natl Acad Sci U S A 116, 1241-1250.

Wiame, E., Tahay, G., Tyteca, D., Vertommen, D., Stroobant, V., Bommer, G.T., Van Schaftingen, E. (2018) NAT6 acetylates the N-terminus of different forms of actin. FEBS J 285, 3299-3316.

Peracchi, A., Veiga-da-Cunha, M., Kuhara, T., Ellens, K.W., Paczia, N., Stroobant, V., Seliga, A.K., Marlaire, S., Jaisson, S., Bommer, G.T., Sun, J., Huebner, K., Linster, C.L., Cooper, A.J.L., and Van Schaftingen, E. (2017). Nit1 is a metabolite repair enzyme that hydrolyzes deaminated glutathione. Proc Natl Acad Sci U S A 114, E3233-E3242.

Collard, F., Baldin, F., Gerin, I., Bolsee, J., Noel, G., Graff, J., Veiga-da-Cunha, M., Stroobant, V., Vertommen, D., Houddane, A., Rider, M.H., Linster, C.L., Van Schaftingen, E., and Bommer, G.T. (2016). A conserved phosphatase destroys toxic glycolytic side products in mammals and yeast. Nat Chem Biol 12, 601-607.

Barbier T, Collard F, Zúñiga-Ripa A, Moriyón I, Godard T, Becker J, Wittmann C, Van Schaftingen E, Letesson JJ (2014) Erythritol feeds the pentose phosphate pathway via three new isomerases leading to D-erythrose-4-phosphate in Brucella. Proc Natl Acad Sci U S A 111, 17815-20.

Linster, C.L., Van Schaftingen, E., Hanson, A.D. (2013) Metabolite damage and its repair or pre-emption. Nat Chem Biol 9, 72-80.

Van Schaftingen. E., Collard, F., Wiame, E., Veiga-da-Cunha, M. (2012) Enzymatic repair of Amadori products. Amino Acids 42, 1143-50.

Linster, C.L., Noel, G., Stroobant, V., Vertommen, D., Vincent, M.F., Bommer, G.T., Veiga-da-Cunha, M., and Van Schaftingen, E. (2011). Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading. J Biol Chem 286, 42992-43003.

Marbaix, A.Y., Noël, G., Detroux, A.M., Vertommen, D., Van Schaftingen, E., Linster, C.L. (2011) Extremely conserved ATP- or ADP-dependent enzymatic system for nicotinamide nucleotide repair. J Biol Chem 286, 41246-41252.

Collard, F., Stroobant, V., Lamosa, P., Kapanda, C.N., Lambert, D.M., Muccioli, G.G., Poupaert, J.H., Opperdoes, F., Van Schaftingen, E. (2010) Molecular identification of N-acetylaspartylglutamate synthase and beta-citrylglutamate synthase. J Biol Chem 285, 29826-33.

Drozak, J., Veiga-da-Cunha, M., Vertommen, D., Stroobant, V., and Van Schaftingen, E. (2010). Molecular identification of carnosine synthase as ATP-grasp domain-containing protein 1 (ATPGD1). J Biol Chem 285, 9346-9356.

Wiame, E., Tyteca, D., Pierrot, N., Collard, F., Amyere, M., Noel, G., Desmedt, J., Nassogne, M.C., Vikkula, M., Octave, J.N., Vincent, M.F., Courtoy, P.J., Boltshauser, E., van Schaftingen, E. (2009) Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia. Biochem J 425, 127-36.

Van Schaftingen, E., Rzem, R., and Veiga-da-Cunha, M. (2009). L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair. J Inherit Metab Dis 32, 135-142.

Veiga-da-Cunha, M., Vleugels, W., Maliekal, P., Matthijs, G., and Van Schaftingen, E. (2008). Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase. J Biol Chem 283, 33988-33993.

Maliekal, P., Sokolova, T., Vertommen, D., Veiga-da-Cunha, M., and Van Schaftingen, E. (2007). Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family. J Biol Chem 282, 31844-31851.

Linster, C.L., Van Schaftingen, E. (2007) Vitamin C. Biosynthesis, recycling and degradation in mammals. FEBS J 274, 1-22.

Veiga da-Cunha, M., Jacquemin, P., Delpierre, G., Godfraind, C., Theate, I., Vertommen, D., Clotman, F., Lemaigre, F., Devuyst, O., and Van Schaftingen, E. (2006). Increased protein glycation in fructosamine 3-kinase-deficient mice. Biochem J 399, 257-264.

Rzem, R., Veiga-da-Cunha, M., Noel, G., Goffette, S., Nassogne, M.C., Tabarki, B., Scholler, C., Marquardt, T., Vikkula, M., and Van Schaftingen, E. (2004). A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci U S A 101, 16849-16854.

Achouri, Y., Noel, G., Vertommen, D., Rider, M.H., Veiga-Da-Cunha, M., and Van Schaftingen, E. (2004). Identification of a dehydrogenase acting on D-2-hydroxyglutarate. Biochem J 381, 35-42.

Wiame, E., Delpierre, G., Collard, F., Van Schaftingen, E. (2002) Identification of a pathway for the utilization of the Amadori product fructoselysine in Escherichia coli. J Biol Chem 277, 42523-9.

Van Schaftingen, E., Gerin, I. (2002) The glucose-6-phosphatase system. Biochem J. 362, 513-32.

Delpierre, G., Rider, M.H., Collard, F., Stroobant, V., Vanstapel, F., Santos, H., Van Schaftingen, E. (2000) Identification, cloning, and heterologous expression of a mammalian fructosamine-3-kinase. Diabetes 49, 1627-34.

Collet, J.F., Stroobant, V., Pirard, M., Delpierre, G., Van Schaftingen, E. (1998) A new class of phosphotransferases phosphorylated on an aspartate residue in an amino-terminal DXDX(T/V) motif. J Biol Chem 273, 14107-12.

Veiga-da-Cunha, M., Gerin, I., Chen, Y.T., de Barsy, T., de Lonlay, P., Dionisi-Vici, C., Fenske, C.D., Lee, P.J., Leonard, J.V., Maire, I., McConkie-Rosell, A., Schweitzer, S., Vikkula, M., and Van Schaftingen, E. (1998). A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. Am J Hum Genet 63, 976-983.

Gerin, I., Veiga-da-Cunha, M., Achouri, Y., Collet, J.F., and Van Schaftingen, E. (1997). Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. FEBS Lett 419, 235-238.

Matthijs, G., Schollen, E., Pardon, E., Veiga-Da-Cunha, M., Jaeken, J., Cassiman, J.J., and Van Schaftingen, E. (1997). Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet 16, 88-92.

Van Schaftingen, E., Jaeken, J. (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 377, 318-20.

Van Schaftingen, E., Detheux, M., and Veiga da Cunha, M. (1994). Short-term control of glucokinase activity: role of a regulatory protein. FASEB J 8, 414-419.

Van Schaftingen, E. (1989) A protein from rat liver confers to glucokinase the property of being antagonistically regulated by fructose 6-phosphate and fructose 1-phosphate.

Eur J Biochem. 179, 179-84.

Hers, H.G., Van Schaftingen, E. (1982) Fructose 2,6-bisphosphate 2 years after its discovery.

Biochem J. 206:1-12.

Van Schaftingen, E., Hers ,H.G. (1981) Inhibition of fructose-1,6-bisphosphatase by fructose 2,6-biphosphate. Proc Natl Acad Sci U S A 78, 2861-3.

Van Schaftingen, E., Hue, L., Hers H.G. (1980) Fructose 2,6-bisphosphate, the probable structure of the glucose- and glucagon-sensitive stimulator of phosphofructokinase. Biochem J 192, 897-901.