M. Veiga-da-Cunha

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Metabolite proofreading, a neglected aspect of intermediary metabolism

E. Schaftingen, R. Rzem, Alexandre Y Marbaix, 2013, Journal of Inherited Metabolic Disease.

The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb

F. Trepiccione, M. Veiga-da-Cunha, M. D'Acierno, 2021, Molecular genetics and metabolism reports.

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a

I. Gérin, E. Schaftingen, M. Veiga-da-Cunha, 1999, European Journal of Human Genetics.

Molecular identification of omega-amidase, the enzyme that is functionally coupled with glutamine transaminases, as the putative tumor suppressor Nit2.

M. Veiga-da-Cunha, E. Van Schaftingen, S. Jaisson, 2009, Biochimie.

Treating neutropenia and neutrophil dysfunction in glycogen storage disease IB with an SGLT2-inhibitor.

M. Veiga-da-Cunha, S. Wortmann, T. Derks, 2020, Blood.

Inborn errors of metabolite repair

G. Bommer, M. Veiga-da-Cunha, E. Van Schaftingen, 2019, Journal of inherited metabolic disease.

Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report

M. Veiga-da-Cunha, T. Derks, A. Staiano, 2021, Italian Journal of Pediatrics.

Enzymatic repair of Amadori products

E. Schaftingen, F. Collard, M. Veiga-da-Cunha, 2010, Amino Acids.

Structure of the gene mutated in glycogen storage disease type Ib.

I. Gérin, M. Veiga-da-Cunha, E. Van Schaftingen, 1999, Gene.

The regulatory protein of glucokinase.

E. Schaftingen, M. Veiga-da-Cunha, E. Van Schaftingen, 1997, Biochemical Society transactions.

Identification of Fructose 6-Phosphate- and Fructose 1-Phosphate-binding Residues in the Regulatory Protein of Glucokinase*

M. Veiga-da-Cunha, E. Van Schaftingen, 2002, The Journal of Biological Chemistry.

Effects of fructosamine-3-kinase deficiency on function and survival of mouse pancreatic islets after prolonged culture in high glucose or ribose concentrations.

E. Schaftingen, M. Veiga-da-Cunha, P. Gilon, 2010, American journal of physiology. Endocrinology and metabolism.

Variability in erythrocyte fructosamine 3-kinase activity in humans correlates with polymorphisms in the FN3K gene and impacts on haemoglobin glycation at specific sites.

D. Vertommen, E. Schaftingen, M. Veiga-da-Cunha, 2006, Diabetes & metabolism.

How many forms of glycogen storage disease type I?

I. Gérin, M. Veiga-da-Cunha, E. Van Schaftingen, 2000, European Journal of Pediatrics.

Mutations responsible for 3-phosphoserine phosphatase deficiency

E. Schaftingen, M. Veiga-da-Cunha, J. Collet, 2004, European Journal of Human Genetics.

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

E. Schaftingen, M. Veiga-da-Cunha, E. Van Schaftingen, 2000, Diabetes.

Cholesterol segregates into submicrometric domains at the living erythrocyte membrane: evidence and regulation

P. Courtoy, M. Veiga-da-Cunha, P. van der Smissen, 2015, Cellular and Molecular Life Sciences.

Fructosamine 3-kinase and other enzymes involved in protein deglycation.

F. Collard, M. Veiga-da-Cunha, E. Van Schaftingen, 2007, Advances in enzyme regulation.

Identification of the cDNA encoding human 6‐phosphogluconolactonase, the enzyme catalyzing the second step of the pentose phosphate pathway

I. Gérin, F. Collard, M. Veiga-da-Cunha, 1999, FEBS letters.

Human cytosolic transaminases: side activities and patterns of discrimination towards physiologically available alternative substrates

G. Bommer, M. Veiga-da-Cunha, A. Peracchi, 2022, Cellular and Molecular Life Sciences.

Human l‐3‐phosphoserine phosphatase: sequence, expression and evidence for a phosphoenzyme intermediate

I. Gérin, M. Veiga-da-Cunha, J. Collet, 1997, FEBS letters.

Amino Acid Conservation in Animal Glucokinases

M. Veiga-da-Cunha, E. Van Schaftingen, A. Michel, 1996, The Journal of Biological Chemistry.

Cloning and expression of a Xenopus liver cDNA encoding a fructose-phosphate-insensitive regulatory protein of glucokinase.

M. Veiga-da-Cunha, E. Van Schaftingen, M. Detheux, 1994, European journal of biochemistry.

Repurposing of Empagliflozin as a Possible Treatment for Neutropenia and Inflammatory Bowel Disease in Glycogen Storage Disease Type Ib: A Case Report

M. Veiga-da-Cunha, K. Makrilakis, Aikaterini Barmpagianni, 2022, Cureus.

1,3-Propanediol:NAD+ oxidoreductases of Lactobacillus brevis and Lactobacillus buchneri

M. A. Foster, M. Veiga-da-Cunha, M. Foster, 1992, Applied and environmental microbiology.

Overexpression and purification of fructose-1-phosphate kinase from Escherichia coli: application to the assay of fructose 1-phosphate.

M. Veiga-da-Cunha, A. Hoyoux, E. Van Schaftingen, 2000, Protein expression and purification.

Carnosine and anserine homeostasis in skeletal muscle and heart is controlled by β‐alanine transamination

M. Veiga-da-Cunha, W. Derave, A. Bhatnagar, 2016, The Journal of physiology.

Glucose-6-Phosphatase Mutation G188R Confers an Atypical Glycogen Storage Disease Type 1b Phenotype

E. Schaftingen, M. Veiga-da-Cunha, E. Mayatepek, 2000, Pediatric Research.

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

I. Gérin, E. Schaftingen, M. Veiga-da-Cunha, 1998, American journal of human genetics.

Molecular Identification of Carnosine Synthase as ATP-grasp Domain-containing Protein 1 (ATPGD1)*

D. Vertommen, M. Veiga-da-Cunha, E. Van Schaftingen, 2010, The Journal of Biological Chemistry.

Pathway and regulation of erythritol formation in Leuconostoc oenos

H. Santos, E. Schaftingen, M. Veiga-da-Cunha, 1993, Journal of bacteriology.

Molecular Identification of Hydroxylysine Kinase and of Ammoniophospholyases Acting on 5-Phosphohydroxy-l-lysine and Phosphoethanolamine*

M. Veiga-da-Cunha, E. Van Schaftingen, V. Stroobant, 2012, The Journal of Biological Chemistry.

The metalloprotein YhcH is an anomerase providing N-acetylneuraminate aldolase with the open form of its substrate

V. Haufroid, G. Bommer, M. Veiga-da-Cunha, 2021, The Journal of biological chemistry.

The synthesis of branched-chain fatty acids is limited by enzymatic decarboxylation of ethyl- and methylmalonyl-CoA

I. Gérin, G. Bommer, M. Veiga-da-Cunha, 2019, The Biochemical journal.

Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder

G. Bommer, M. Veiga-da-Cunha, T. Haack, 2021, American journal of human genetics.

Enzyme complexity in intermediary metabolism

M. Veiga-da-Cunha, Carole L. Linster, E. Van Schaftingen, 2015, Journal of Inherited Metabolic Disease.

A Mouse Model of L-2-Hydroxyglutaric Aciduria, a Disorder of Metabolite Repair

R. Rzem, M. Veiga-da-Cunha, E. Marbaix, 2015, PloS one.

Application of 13C Nuclear Magnetic Resonance To Elucidate the Unexpected Biosynthesis of Erythritol by Leuconostoc oenos

M. Veiga-da-Cunha, M. V. Romão, Helena Santos, 1992, Applied and environmental microbiology.

acs1 of Haemophilus influenzae Type a Capsulation Locus Region II Encodes a Bifunctional Ribulose 5-Phosphate Reductase– CDP-Ribitol Pyrophosphorylase

M. Veiga-da-Cunha, E. Van Schaftingen, J. van Eldere, 1999, Journal of bacteriology.

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

D. Bonthron, P. Boutin, E. Schaftingen, 2003, Diabetologia.

Sequence of a putative glucose 6‐phosphate translocase, mutated in glycogen storage disease type Ib 1

I. Gérin, M. Veiga-da-Cunha, J. Collet, 1997, FEBS letters.

A conserved phosphatase destroys toxic glycolytic side products in mammals and yeast.

D. Vertommen, I. Gérin, G. Bommer, 2016, Nature Chemical Biology.

SETD3 protein is the actin-specific histidine N-methyltransferase

A. Teleman, D. Vertommen, M. Veiga-da-Cunha, 2018, bioRxiv.

Metabolite Proofreading in Carnosine and Homocarnosine Synthesis

D. Vertommen, M. Veiga-da-Cunha, E. Van Schaftingen, 2014, The Journal of Biological Chemistry.

Biochemical basis for glucose-induced inhibition of malolactic fermentation in Leuconostoc oenos

H. Santos, A. Ramos, M. Veiga-da-Cunha, 1997, Journal of bacteriology.

Molecular Identification of NAT8 as the Enzyme That Acetylates Cysteine S-Conjugates to Mercapturic Acids*

F. Opperdoes, P. Courtoy, M. Veiga-da-Cunha, 2010, The Journal of Biological Chemistry.

Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations

C. Fallet-Bianco, C. Picard, E. Schaftingen, 2021, Journal of Clinical Immunology.

Variants in the ethylmalonyl‐CoA decarboxylase ( ECHDC1 ) gene: a novel player in ethylmalonic aciduria?

E. Schaftingen, M. Veiga-da-Cunha, L. Aagaard, 2021, Journal of inherited metabolic disease.

CHAPTER 6:The Biochemistry of Enzymes Producing Carnosine and Anserine

E. Schaftingen, M. Veiga-da-Cunha, J. Drożak, 2015 .

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

E. Schaftingen, R. Rzem, M. Veiga-da-Cunha, 2009, Journal of Inherited Metabolic Disease.

C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA

E. Schaftingen, M. Veiga-da-Cunha, Simon Marlaire, 2014, Journal of Inherited Metabolic Disease.

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

E. Pardon, E. Schaftingen, M. Veiga-da-Cunha, 1997, Nature Genetics.

Molecular Identification of Mammalian Phosphopentomutase and Glucose-1,6-bisphosphate Synthase, Two Members of the α-D-Phosphohexomutase Family*

D. Vertommen, M. Veiga-da-Cunha, E. Van Schaftingen, 2007, Journal of Biological Chemistry.

Nit1 is a metabolite repair enzyme that hydrolyzes deaminated glutathione

J. Sun, K. Huebner, G. Bommer, 2017, Proceedings of the National Academy of Sciences.

Insights into the Structure and Regulation of Glucokinase from a Novel Mutation (V62M), Which Causes Maturity-onset Diabetes of the Young*

Giuseppe d'Annunzio, Renata Lorini, Anna L Gloyn, 2005, Journal of Biological Chemistry.

Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients

M. Veiga-da-Cunha, R. Spiegel, A. Sabag, 2022, Frontiers in Pediatrics.

Many fructosamine 3‐kinase homologues in bacteria are ribulosamine/erythrulosamine 3‐kinases potentially involved in protein deglycation

D. Vertommen, R. Rzem, M. Veiga-da-Cunha, 2007, The FEBS journal.

Evolution of vertebrate glucokinase regulatory protein from a bacterial N-acetylmuramate 6-phosphate etherase.

F. Opperdoes, M. Veiga-da-Cunha, E. Van Schaftingen, 2009, The Biochemical journal.

Enzymatic repair of Amadori products

E. Schaftingen, F. Collard, M. Veiga-da-Cunha, 2012, Amino Acids.

Mammalian Phosphomannomutase PMM1 Is the Brain IMP-sensitive Glucose-1,6-bisphosphatase*

M. Veiga-da-Cunha, G. Matthijs, E. Van Schaftingen, 2008, Journal of Biological Chemistry.

Characterization of mammalian sedoheptulokinase and mechanism of formation of erythritol in sedoheptulokinase deficiency

M. Veiga-da-Cunha, V. Stroobant, T. Kardon, 2008, FEBS letters.

Metabolite Repair Enzymes Control Metabolic Damage in Glycolysis.

G. Bommer, M. Veiga-da-Cunha, E. Van Schaftingen, 2020, Trends in biochemical sciences.

High-resolution mapping and recognition of lipid domains using AFM with toxin-derivatized probes.

M. Veiga-da-Cunha, P. Henriet, D. Alsteens, 2018, Chemical communications.

Endogenous sphingomyelin segregates into submicrometric domains in the living erythrocyte membrane[S]

P. Courtoy, M. Veiga-da-Cunha, H. Mizuno, 2014, Journal of Lipid Research.

Glucokinase regulatory protein is essential for the proper subcellular localisation of liver glucokinase

M. Veiga-da-Cunha, J. Ferrer, J. Guinovart, 1999, FEBS letters.

Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5

M. Veiga-da-Cunha, E. Van Schaftingen, X. Stephenne, 2022, Journal of inherited metabolic disease.

Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency

G. Bommer, M. Veiga-da-Cunha, Carole L. Linster, 2019, Proceedings of the National Academy of Sciences.

Control of Glucose Phosphorylation/Dephosphorylation in the Liver

I. Gérin, E. Schaftingen, M. Veiga-da-Cunha, 2000 .

Effect of mutations on the sensitivity of human beta-cell glucokinase to liver regulatory protein

E. Schaftingen, M. Veiga-da-Cunha, S. Pilkis, 1996, Diabetologia.

Fructose Utilization in Lactococcus lactis as a Model for Low-GC Gram-Positive Bacteria: Its Regulator, Signal, and DNA-Binding Site

N. Pons, P. Renault, M. Veiga-da-Cunha, 2005, Journal of bacteriology.

The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase.

R. Rzem, M. Veiga-da-Cunha, E. Van Schaftingen, 2006, Biochimie.

Identification of a dehydrogenase acting on D-2-hydroxyglutarate.

D. Vertommen, M. Veiga-da-Cunha, M. Rider, 2004, The Biochemical journal.

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

E. Schaftingen, R. Rzem, M. Veiga-da-Cunha, 2007, Journal of Inherited Metabolic Disease.

A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.

R. Rzem, M. Veiga-da-Cunha, M. Vikkula, 2004, Proceedings of the National Academy of Sciences of the United States of America.

Ethylmalonyl-CoA Decarboxylase, a New Enzyme Involved in Metabolite Proofreading*

D. Vertommen, G. Bommer, M. Veiga-da-Cunha, 2011, The Journal of Biological Chemistry.

Vertebrate Acyl CoA synthetase family member 4 (ACSF4‐U26) is a β‐alanine‐activating enzyme homologous to bacterial non‐ribosomal peptide synthetase

M. Veiga-da-Cunha, E. Van Schaftingen, J. Drożak, 2014, The FEBS journal.

Cholesterol segregates into submicrometric domains at the living erythrocyte membrane: evidence and regulation

P. Courtoy, M. Veiga-da-Cunha, M. Carquin, 2015, Cellular and Molecular Life Sciences.

Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors

M. Veiga-da-Cunha, S. Wortmann, E. Van Schaftingen, 2023, Diagnostics.

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria

M. Durán, E. Schaftingen, M. Veiga-da-Cunha, 2013, Journal of Inherited Metabolic Disease.

Diagnosis and Molecular Characterization of Nonclassic Forms of Tay-Sachs Disease in Brazil

M. Born, R. Rzem, M. Veiga-da-Cunha, 2006 .

Investigation on the mechanism by which fructose, hexitols and other compounds regulate the translocation of glucokinase in rat hepatocytes.

M. Veiga-da-Cunha, E. Van Schaftingen, L. Niculescu, 1997, The Biochemical journal.

Carnosine and anserine homeostasis in skeletal muscle and heart is controlled by β‐alanine transamination

M. Veiga-da-Cunha, W. Derave, A. Bhatnagar, 2016, The Journal of physiology.

Metabolite Proofreading in Carnosine and Homocarnosine Synthesis

D. Vertommen, M. Veiga-da-Cunha, E. Van Schaftingen, 2014, The Journal of Biological Chemistry.