Lista de obras - Emile Van Schaftingen - Dominio Público Uruguay

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

artículo científico publicado en 2016

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

artículo científico publicado en 2004

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

artículo científico publicado el 24 de agosto de 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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado el 15 de agosto de 1992

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

artículo científico publicado el 1 de diciembre de 2002

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

artículo científico publicado en 2014

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

artículo científico publicado en 1996

Congenital disorders of glycosylation (CDG): Quo vadis?

artículo científico publicado en 2017

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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Enzymatic repair of Amadori products

scientific article published on 22 October 2010

Enzyme complexity in intermediary metabolism

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2002

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

Fructosamine 3-kinase and other enzymes involved in protein deglycation

artículo científico publicado en 2007

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

artículo científico publicado en 2002

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

artículo científico publicado en 2004

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

artículo científico publicado el 15 de julio de 1982

Fructose-2,6-bisphosphatase from Rat Liver ⬇️

artículo científico publicado el 1 de mayo de 1982

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

artículo científico publicado en 2004

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

artículo científico publicado en 2010

High-resolution structure of human phosphoserine phosphatase in open conformation

artículo científico publicado en 2003

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

artículo científico publicado el 15 de septiembre de 1983

How calcium inhibits the magnesium-dependent enzyme human phosphoserine phosphatase

artículo científico publicado en 2004

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

Identification of a dehydrogenase acting on D-2-hydroxyglutarate

artículo científico publicado en 2004

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

artículo científico publicado en 2002

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

artículo científico publicado en 2004

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

artículo científico publicado en 2004

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

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2006

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

artículo científico publicado en 2006

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

artículo científico publicado el 16 de noviembre de 1981

Increased protein glycation in fructosamine 3-kinase-deficient mice

artículo científico publicado en 2006

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

artículo científico publicado el 1 de mayo de 1981

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

artículo científico publicado en 2005

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

artículo científico publicado el 15 de febrero de 1982

Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes

artículo científico publicado en 1999

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

artículo científico publicado el 1 de marzo de 1998

Limitations of galactose therapy in phosphoglucomutase 1 deficiency

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado el 1 de agosto de 1998

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

artículo científico publicado en 2007

Metabolite damage and its repair or pre-emption

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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)

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

Molecular identification of pseudouridine-metabolizing enzymes

artículo científico publicado en 2008

Molecular identification of β-citrylglutamate hydrolase as glutamate carboxypeptidase 3

scientific journal article

Multiple phenotypes in phosphoglucomutase 1 deficiency

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria

artículo científico publicado en 2005

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.

artículo científico publicado en 2012

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

artículo científico publicado en 2004

Mutations responsible for 3-phosphoserine phosphatase deficiency

artículo científico publicado en 2004

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

artículo científico publicado en 2013

Nit1 is a metabolite repair enzyme that hydrolyzes deaminated glutathione

artículo científico publicado en 2017

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 ⬇️

artículo científico publicado el 1 de agosto de 1983

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

artículo científico publicado el 1 de junio de 1998

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

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 2002

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

artículo científico publicado el 1 de agosto de 1992

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

artículo científico publicado en 2003

TMEM165 deficiency causes a congenital disorder of glycosylation

artículo científico publicado en 2012

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

artículo científico publicado el 15 de febrero de 1984

The glucose-6-phosphatase system

artículo científico publicado en 2002

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

artículo científico publicado el 15 de noviembre de 1984

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

artículo científico publicado en 2004

The regulatory protein of liver glucokinase

artículo científico publicado el 1 de enero de 1992

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

artículo científico publicado el 15 de junio de 1983

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

artículo científico publicado el 21 de junio de 1982

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

artículo científico publicado el 21 de junio de 1982

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

artículo científico publicado en 2004

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

artículo científico publicado en 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

artículo científico publicado en 2007

Lista de obras de 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