Articles with public access mandates - Emile Van SchaftingenLearn more
Not available anywhere: 8
A conserved phosphatase destroys toxic glycolytic side products in mammals and yeast
F Collard, F Baldin, I Gerin, J Bolsée, G Noël, J Graff, M Veiga-da-Cunha, ...
Nature chemical biology 12 (8), 601-607, 2016
Mandates: National Fund for Scientific Research, Belgium, European Commission
Identification of TP53-induced glycolysis and apoptosis regulator (TIGAR) as the phosphoglycolate-independent 2, 3-bisphosphoglycerate phosphatase
I Gerin, G Noël, J Bolsée, O Haumont, E Van Schaftingen, GT Bommer
Biochemical Journal 458 (3), 439-448, 2014
Mandates: National Fund for Scientific Research, Belgium
C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA
S Marlaire, E Van Schaftingen, M Veiga-da-Cunha
Journal of inherited metabolic disease 37, 13-19, 2014
Mandates: National Fund for Scientific Research, Belgium
Enzyme complexity in intermediary metabolism
E Van Schaftingen, M Veiga-da-Cunha, CL Linster
Journal of inherited metabolic disease 38, 721-727, 2015
Mandates: National Fund for Scientific Research, Belgium
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction
WA Gold, N Sobreira, E Wiame, A Marbaix, E Van Schaftingen, P Franzka, ...
American Journal of Medical Genetics Part A 173 (8), 2246-2250, 2017
Mandates: US National Institutes of Health, National Health and Medical Research …
Two novel homozygous mutations in phosphoglucomutase 3 leading to severe combined immunodeficiency, skeletal dysplasia, and malformations
M Fusaro, A Vincent, M Castelle, J Rosain, B Fournier, M Veiga-da-Cunha, ...
Journal of clinical immunology 41, 958-966, 2021
Mandates: National Fund for Scientific Research, Belgium, Agence Nationale de la Recherche
Off to a slow start: Analyzing lag phases and accelerating rates in steady-state enzyme kinetics
E Zangelmi, L Ronda, C Castagna, B Campanini, M Veiga-da-Cunha, ...
Analytical biochemistry 593, 113595, 2020
Mandates: Government of Italy
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria
M Veiga‐da‐Cunha, NM Verhoeven‐Duif, TJ De Koning, M Duran, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2013
Mandates: National Fund for Scientific Research, Belgium
Available somewhere: 48
Multiple phenotypes in phosphoglucomutase 1 deficiency
LC Tegtmeyer, S Rust, M van Scherpenzeel, BG Ng, ME Losfeld, S Timal, ...
New England Journal of Medicine 370 (6), 533-542, 2014
Mandates: US National Institutes of Health, Research Foundation (Flanders)
Congenital disorders of glycosylation (CDG): Quo vadis?
R Péanne, P De Lonlay, F Foulquier, U Kornak, DJ Lefeber, E Morava, ...
European journal of medical genetics 61 (11), 643-663, 2018
Mandates: European Commission
TMEM165 deficiency causes a congenital disorder of glycosylation
F Foulquier, M Amyere, J Jaeken, R Zeevaert, E Schollen, V Race, ...
The American Journal of Human Genetics 91 (1), 15-26, 2012
Mandates: US National Institutes of Health, Research Foundation (Flanders)
Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells
D Demaegd, F Foulquier, AS Colinet, L Gremillon, D Legrand, P Mariot, ...
Proceedings of the National Academy of Sciences 110 (17), 6859-6864, 2013
Mandates: Research Foundation (Flanders)
ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan
I Gerin, B Ury, I Breloy, C Bouchet-Seraphin, J Bolsée, M Halbout, J Graff, ...
Nature communications 7 (1), 11534, 2016
Mandates: National Fund for Scientific Research, Belgium, German Research Foundation
Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency
M Veiga-da-Cunha, N Chevalier, X Stephenne, JP Defour, N Paczia, ...
Proceedings of the National Academy of Sciences 116 (4), 1241-1250, 2019
Mandates: National Fund for Scientific Research, Belgium, European Commission …
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor
SB Wortmann, JLK Van Hove, TGJ Derks, N Chevalier, V Knight, A Koller, ...
Blood, The Journal of the American Society of Hematology 136 (9), 1033-1043, 2020
Mandates: Austrian Science Fund, National Fund for Scientific Research, Belgium …
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction
K Koehler, M Malik, S Mahmood, S Gießelmann, C Beetz, JC Hennings, ...
The American Journal of Human Genetics 93 (4), 727-734, 2013
Mandates: Research Foundation (Flanders), German Research Foundation
Metabolite repair enzymes control metabolic damage in glycolysis
GT Bommer, E Van Schaftingen, M Veiga-da-Cunha
Trends in biochemical sciences 45 (3), 228-243, 2020
Mandates: National Fund for Scientific Research, Belgium, European Commission
Molecular damage in aging
VN Gladyshev, SB Kritchevsky, SG Clarke, AM Cuervo, O Fiehn, ...
Nature Aging 1 (12), 1096-1106, 2021
Mandates: US National Science Foundation, US National Institutes of Health
Erythritol feeds the pentose phosphate pathway via three new isomerases leading to D-erythrose-4-phosphate in Brucella
T Barbier, F Collard, A Zúñiga-Ripa, I Moriyón, T Godard, J Becker, ...
Proceedings of the National Academy of Sciences 111 (50), 17815-17820, 2014
Mandates: National Fund for Scientific Research, Belgium, German Research Foundation …
A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair
R Rzem, Y Achouri, E Marbaix, O Schakman, E Wiame, S Marie, P Gailly, ...
PloS one 10 (3), e0119540, 2015
Mandates: National Fund for Scientific Research, Belgium
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