List of works - Emile Van Schaftingen

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

scientific article

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

scientific article

A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: Novel avenues for biochemical and therapeutic studies ⬇️

scientific article published on August 24, 2011

A mammalian protein homologous to fructosamine-3-kinase is a ketosamine-3-kinase acting on psicosamines and ribulosamines but not on fructosamines

scientific journal article

A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair

scientific article

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

scientific article

A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy

scientific article published in July 2012

Binding of mannose-binding lectin to fructosamines: a potential link between hyperglycaemia and complement activation in diabetes

scientific article published in May 2010

Binding of sorbitol 6-phosphate and of fructose 1-phosphate to the regulatory protein of liver glucokinase ⬇️

scientific article published on August 15, 1992

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

scientific article published on 01 December 2002

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

scientific article

Cloning and sequencing of rat liver carboxylesterase ES-4 (microsomal palmitoyl-CoA hydrolase)

scientific article

Congenital disorders of glycosylation (CDG): Quo vadis?

scientific article published on 24 October 2017

Convergent evolution of zoonotic Brucella species toward the selective use of the pentose phosphate pathway

scientific article published on 05 October 2020

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria

scientific article

Determinants of the enzymatic activity and the subcellular localization of aspartate N-acetyltransferase

scientific article published in January 2012

Enzymatic repair of Amadori products

scientific article published on 22 October 2010

Enzyme complexity in intermediary metabolism

scientific article

Erythritol Availability in Bovine, Murine and Human Models Highlights a Potential Role for the Host Aldose Reductase during Brucella Infection

scientific article

Erythritol feeds the pentose phosphate pathway via three new isomerases leading to D-erythrose-4-phosphate in Brucella

scientific article

Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading

scientific journal article

Evidence for glucose-6-phosphate transport in rat liver microsomes

scientific journal article

Evidence for phosphotransferases phosphorylated on aspartate residue in N-terminal DXDX(T/V) motif

scientific article published in January 2002

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

scientific article published on 12 October 2009

Extremely conserved ATP- or ADP-dependent enzymatic system for nicotinamide nucleotide repair

scientific article

Fructosamine 3-kinase and other enzymes involved in protein deglycation

scientific article published on 6 March 2007

Fructosamine 3-kinase is involved in an intracellular deglycation pathway in human erythrocytes

scientific article

Fructosamine 3-kinase-related protein and deglycation in human erythrocytes

scientific article

Fructose 2,6-bisphosphate 2 years after its discovery ⬇️

scientific article published on July 15, 1982

Fructose-2,6-bisphosphatase from Rat Liver ⬇️

scientific article published on May 1, 1982

Fructoselysine 3-epimerase, an enzyme involved in the metabolism of the unusual Amadori compound psicoselysine in Escherichia coli

scientific article

HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase

scientific article published on October 2010

High-resolution structure of human phosphoserine phosphatase in open conformation

scientific article

Hormonal control of fructose 2,6-bisphosphate concentration in isolated rat hepatocytes ⬇️

scientific article published on September 15, 1983

How calcium inhibits the magnesium-dependent enzyme human phosphoserine phosphatase

scientific article

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

scientific article

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

scientific article published on 19 May 2016

Identification of 3-deoxyglucosone dehydrogenase as aldehyde dehydrogenase 1A1 (retinaldehyde dehydrogenase 1).

scientific article published on 24 November 2006

Identification of a dehydrogenase acting on D-2-hydroxyglutarate

scientific article

Identification of a pathway for the utilization of the Amadori product fructoselysine in Escherichia coli

scientific article

Identification of enzymes acting on alpha-glycated amino acids in Bacillus subtilis

scientific article published in November 2004

Identification of fructosamine residues deglycated by fructosamine-3-kinase in human hemoglobin

scientific article

Identification of fructose 6-phosphate- and fructose 1-phosphate-binding residues in the regulatory protein of glucokinase

scientific journal article

Identification of glucoselysine-6-phosphate deglycase, an enzyme involved in the metabolism of the fructation product glucoselysine

scientific article published on December 2005

Identification of protein-ribulosamine-5-phosphatase as human low-molecular-mass protein tyrosine phosphatase-A.

scientific article published on August 2007

Identification of the gene encoding hydroxyacid-oxoacid transhydrogenase, an enzyme that metabolizes 4-hydroxybutyrate

scientific article

Identification of the sequence encoding N-acetylneuraminate-9-phosphate phosphatase

scientific article

Inactivation of phosphofructokinase 2 by cyclic AMP-dependent protein kinase ⬇️

scientific article published on November 16, 1981

Increased protein glycation in fructosamine 3-kinase-deficient mice

scientific article

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

scientific article published on May 1, 1981

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young

scientific article

Interference by pyruvate carboxylase in the measurement of acetyl-CoA carboxylase in crude liver preparations ⬇️

scientific article published on February 15, 1982

Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes

scientific article published in 1999

Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A ⬇️

scientific article published on March 1, 1998

Limitations of galactose therapy in phosphoglucomutase 1 deficiency

scientific article published on 31 July 2017

Magnesium-dependent phosphatase-1 is a protein-fructosamine-6-phosphatase potentially involved in glycation repair

scientific journal article

Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase

scientific article published on 16 October 2008

Mannitol 1-phosphate mediates an inhibitory effect of mannitol on the activity and the translocation of glucokinase in isolated rat hepatocytes ⬇️

scientific article published on 01 August 1998

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

scientific article published on 6 August 2007

Metabolite damage and its repair or pre-emption

scientific article

Metabolite proofreading in carnosine and homocarnosine synthesis: molecular identification of PM20D2 as β-alanyl-lysine dipeptidase

scientific journal article

Metabolite proofreading, a neglected aspect of intermediary metabolism

scientific article

Molecular identification of N-acetylaspartylglutamate synthase and beta-citrylglutamate synthase

scientific journal article

Molecular identification of NAT8 as the enzyme that acetylates cysteine S-conjugates to mercapturic acids

scientific article

Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia

scientific journal article

Molecular identification of carnosine synthase as ATP-grasp domain-containing protein 1 (ATPGD1)

scientific article

Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine

scientific article

Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family

scientific article

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

scientific article

Molecular identification of pseudouridine-metabolizing enzymes

scientific article published on 30 June 2008

Molecular identification of β-citrylglutamate hydrolase as glutamate carboxypeptidase 3

scientific journal article

Multiple phenotypes in phosphoglucomutase 1 deficiency

scientific article

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

scientific article published on 12 September 2013

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria

scientific article

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.

scientific article published on 14 December 2012

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria

scientific article

Mutations responsible for 3-phosphoserine phosphatase deficiency

scientific article

Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells

scientific article

Nit1 is a metabolite repair enzyme that hydrolyzes deaminated glutathione

scientific article

Occurrence and subcellular distribution of the NADPHX repair system in mammals

scientific journal article

On the Mechanism of Inhibition of Neutral Liver Fructose 1,6-Bisphosphatase by Fructose 2,6-Bisphosphate ⬇️

scientific article published on 01 August 1983

Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation ⬇️

scientific article published on June 1, 1998

Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway

scientific article

Plant ribulosamine/erythrulosamine 3-kinase, a putative protein-repair enzyme

scientific article

Purification, crystallization and preliminary X-ray diffraction analysis of human phosphoserine phosphatase

scientific article (publication date: 2002)

Pyruvate kinase from Trichomonas vaginalis, an allosteric enzyme stimulated by ribose 5-phosphate and glycerate 3-phosphate

scientific article published on August 1, 1992

Rapid stimulation of free glucuronate formation by non-glucuronidable xenobiotics in isolated rat hepatocytes

scientific article

TMEM165 deficiency causes a congenital disorder of glycosylation

scientific article

The ability of adenosine to decrease the concentration of fructose 2,6-bisphosphate in isolated hepatocytes. A cyclic AMP-mediated effect ⬇️

scientific article published on February 15, 1984

The glucose-6-phosphatase system

scientific article

The mechanism by which glucose increases fructose 2,6-bisphosphate concentration in Saccharomyces cerevisiae. A cyclic-AMP-dependent activation of phosphofructokinase 2 ⬇️

scientific article published on November 15, 1984

The prenatal diagnosis of congenital disorders of glycosylation (CDG).

scientific article published on February 2004

The regulatory protein of liver glucokinase

scientific article published on January 1, 1992

The role of fructose 2,6-bisphosphate in the long-term control of phosphofructokinase in rat liver ⬇️

scientific article published on June 15, 1983

The stimulation of phosphofructokinase from human erythrocytes by fructose 2,6-bisphosphate ⬇️

scientific article published on June 21, 1982

The stimulation of yeast phosphofructokinase by fructose 2,6-bisphosphate ⬇️

scientific article published on June 21, 1982

Tissue distribution and evolution of fructosamine 3-kinase and fructosamine 3-kinase-related protein

scientific article

Two new cases of serine deficiency disorders treated with l-serine

scientific article published on 5 November 2015

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

scientific journal article

Vitamin C. Biosynthesis, recycling and degradation in mammals

scientific article

List of works by Emile Van Schaftingen

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

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

A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: Novel avenues for biochemical and therapeutic studies ⬇️

A mammalian protein homologous to fructosamine-3-kinase is a ketosamine-3-kinase acting on psicosamines and ribulosamines but not on fructosamines

A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy

Binding of mannose-binding lectin to fructosamines: a potential link between hyperglycaemia and complement activation in diabetes

Binding of sorbitol 6-phosphate and of fructose 1-phosphate to the regulatory protein of liver glucokinase ⬇️

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

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

Cloning and sequencing of rat liver carboxylesterase ES-4 (microsomal palmitoyl-CoA hydrolase)

Congenital disorders of glycosylation (CDG): Quo vadis?

Convergent evolution of zoonotic Brucella species toward the selective use of the pentose phosphate pathway

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria

Determinants of the enzymatic activity and the subcellular localization of aspartate N-acetyltransferase

Enzymatic repair of Amadori products

Enzyme complexity in intermediary metabolism

Erythritol Availability in Bovine, Murine and Human Models Highlights a Potential Role for the Host Aldose Reductase during Brucella Infection

Erythritol feeds the pentose phosphate pathway via three new isomerases leading to D-erythrose-4-phosphate in Brucella

Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading

Evidence for glucose-6-phosphate transport in rat liver microsomes

Evidence for phosphotransferases phosphorylated on aspartate residue in N-terminal DXDX(T/V) motif

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

Extremely conserved ATP- or ADP-dependent enzymatic system for nicotinamide nucleotide repair

Fructosamine 3-kinase and other enzymes involved in protein deglycation

Fructosamine 3-kinase is involved in an intracellular deglycation pathway in human erythrocytes

Fructosamine 3-kinase-related protein and deglycation in human erythrocytes

Fructose 2,6-bisphosphate 2 years after its discovery ⬇️

Fructose-2,6-bisphosphatase from Rat Liver ⬇️

Fructoselysine 3-epimerase, an enzyme involved in the metabolism of the unusual Amadori compound psicoselysine in Escherichia coli

HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase

High-resolution structure of human phosphoserine phosphatase in open conformation

Hormonal control of fructose 2,6-bisphosphate concentration in isolated rat hepatocytes ⬇️

How calcium inhibits the magnesium-dependent enzyme human phosphoserine phosphatase

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

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

Identification of 3-deoxyglucosone dehydrogenase as aldehyde dehydrogenase 1A1 (retinaldehyde dehydrogenase 1).

Identification of a dehydrogenase acting on D-2-hydroxyglutarate

Identification of a pathway for the utilization of the Amadori product fructoselysine in Escherichia coli

Identification of enzymes acting on alpha-glycated amino acids in Bacillus subtilis

Identification of fructosamine residues deglycated by fructosamine-3-kinase in human hemoglobin

Identification of fructose 6-phosphate- and fructose 1-phosphate-binding residues in the regulatory protein of glucokinase

Identification of glucoselysine-6-phosphate deglycase, an enzyme involved in the metabolism of the fructation product glucoselysine

Identification of protein-ribulosamine-5-phosphatase as human low-molecular-mass protein tyrosine phosphatase-A.

Identification of the gene encoding hydroxyacid-oxoacid transhydrogenase, an enzyme that metabolizes 4-hydroxybutyrate

Identification of the sequence encoding N-acetylneuraminate-9-phosphate phosphatase

Inactivation of phosphofructokinase 2 by cyclic AMP-dependent protein kinase ⬇️

Increased protein glycation in fructosamine 3-kinase-deficient mice

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

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young

Interference by pyruvate carboxylase in the measurement of acetyl-CoA carboxylase in crude liver preparations ⬇️

Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes

Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A ⬇️

Limitations of galactose therapy in phosphoglucomutase 1 deficiency

Magnesium-dependent phosphatase-1 is a protein-fructosamine-6-phosphatase potentially involved in glycation repair

Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase

Mannitol 1-phosphate mediates an inhibitory effect of mannitol on the activity and the translocation of glucokinase in isolated rat hepatocytes ⬇️

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

Metabolite damage and its repair or pre-emption

Metabolite proofreading in carnosine and homocarnosine synthesis: molecular identification of PM20D2 as β-alanyl-lysine dipeptidase

Metabolite proofreading, a neglected aspect of intermediary metabolism

Molecular identification of N-acetylaspartylglutamate synthase and beta-citrylglutamate synthase

Molecular identification of NAT8 as the enzyme that acetylates cysteine S-conjugates to mercapturic acids

Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia

Molecular identification of carnosine synthase as ATP-grasp domain-containing protein 1 (ATPGD1)

Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine

Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family

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

Molecular identification of pseudouridine-metabolizing enzymes

Molecular identification of β-citrylglutamate hydrolase as glutamate carboxypeptidase 3

Multiple phenotypes in phosphoglucomutase 1 deficiency

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria

Mutations responsible for 3-phosphoserine phosphatase deficiency

Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells

Nit1 is a metabolite repair enzyme that hydrolyzes deaminated glutathione