Search Results - "van Schaftingen, Emile"

Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations by Fusaro, Mathieu, Vincent, Aline, Castelle, Martin, Rosain, Jérémie, Fournier, Benjamin, Veiga-da-Cunha, Maria, Kentache, Takfarinas, Serre, Jill, Fallet-Bianco, Catherine, Delezoide, Anne-Lise, Renesme, Laurent, Picard, Fanny Morice, Lasseaux, Eulalie, Aladjidi, Nathalie, Seta, Nathalie, Cormier-Daire, Valérie, Schaftingen, Emile van, Neven, Bénédicte, Moshous, Despina, Blesson, Sophie, Picard, Capucine

“…Phosphoglucomutase 3 (PGM3) deficiency is a rare congenital disorder of glycosylation. Most of patients with autosomal recessive hypomorphic mutations in PGM3…”
Get full text

Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia by Wiame, Elsa, Tyteca, Donatienne, Pierrot, Nathalie, Collard, François, Amyere, Mustapha, Noel, Gaëtane, Desmedt, Jonathan, Nassogne, Marie-Cécile, Vikkula, Miikka, Octave, Jean-Noël, Vincent, Marie-Françoise, Courtoy, Pierre J, Boltshauser, Eugen, van Schaftingen, Emile

“…The brain-specific compound NAA (N-acetylaspartate) occurs almost exclusively in neurons, where its concentration reaches approx. 20 mM. Its abundance is…”
Get more information

Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction by Koehler, Katrin, Malik, Meera, Mahmood, Saqib, Gießelmann, Sebastian, Beetz, Christian, Hennings, J. Christopher, Huebner, Antje K., Grahn, Ammi, Reunert, Janine, Nürnberg, Gudrun, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Mumtaz, Rizwan, Babovic-Vuksanovic, Dusica, Basel-Vanagaite, Lina, Borck, Guntram, Brämswig, Jürgen, Mühlenberg, Reinhard, Sarda, Pierre, Sikiric, Alma, Anyane-Yeboa, Kwame, Zeharia, Avraham, Ahmad, Arsalan, Coubes, Christine, Wada, Yoshinao, Marquardt, Thorsten, Vanderschaeghe, Dieter, Van Schaftingen, Emile, Kurth, Ingo, Huebner, Angela, Hübner, Christian A.

“…In guanosine diphosphate (GDP)-mannose pyrophosphorylase A (GMPPA), we identified a homozygous nonsense mutation that segregated with achalasia and alacrima,…”
Get full text

Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway by Hart, Claire E., Race, Valerie, Achouri, Younes, Wiame, Elsa, Sharrard, Mark, Olpin, Simon E., Watkinson, Jennifer, Bonham, James R., Jaeken, Jaak, Matthijs, Gert, Van Schaftingen, Emile

“…We present the first two identified cases of phosphoserine aminotransferase deficiency. This disorder of serine biosynthesis has been identified in two…”
Get full text

Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria by Struys, Eduard A., Salomons, Gajja S., Achouri, Younes, Van Schaftingen, Emile, Grosso, Salvatore, Craigen, William J., Verhoeven, Nanda M., Jakobs, Cornelis

“…d-2-hydroxyglutaric aciduria is a neurometabolic disorder with both a mild and a severe phenotype and with unknown etiology. Recently, a novel enzyme,…”
Get full text

Increased protein glycation in fructosamine 3-kinase-deficient mice by Veiga da-Cunha, Maria, Jacquemin, Patrick, Delpierre, Ghislain, Godfraind, Catherine, Théate, Ivan, Vertommen, Didier, Clotman, Frédéric, Lemaigre, Frédéric, Devuyst, Olivier, Van Schaftingen, Emile

“…Amines, including those present on proteins, spontaneously react with glucose to form fructosamines in a reaction known as glycation. In the present paper, we…”
Get full text

Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor by Wortmann, Saskia B., Van Hove, Johan L.K., Derks, Terry G.J., Chevalier, Nathalie, Knight, Vijaya, Koller, Andreas, Oussoren, Esmee, Mayr, Johannes A., van Spronsen, Francjan J., Lagler, Florian B., Gaughan, Sommer, Van Schaftingen, Emile, Veiga-da-Cunha, Maria

“…Neutropenia and neutrophil dysfunction cause serious infections and inflammatory bowel disease in glycogen storage disease type Ib (GSD-Ib). Our discovery that…”
Get full text

Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency by Veiga-da-Cunha, Maria, Chevalier, Nathalie, Stephenne, Xavier, Defour, Jean-Philippe, Paczia, Nicole, Ferster, Alina, Achouri, Younes, Dewulf, Joseph P., Linster, Carole L., Bommer, Guido T., Van Schaftingen, Emile

“…Neutropenia represents an important problem in patients with genetic deficiency in either the glucose-6-phosphate transporter of the endoplasmic reticulum…”
Get full text

NAT6 acetylates the N‐terminus of different forms of actin by Wiame, Elsa, Tahay, Gaëlle, Tyteca, Donatienne, Vertommen, Didier, Stroobant, Vincent, Bommer, Guido T., Van Schaftingen, Emile

“…All forms of mammalian actin comprise at their N‐terminus a negatively charged region consisting of an N‐acetylated aspartate or glutamate followed by two or…”
Get full text

Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5 by Boulanger, Cécile, Stephenne, Xavier, Diederich, Jennifer, Mounkoro, Pierre, Chevalier, Nathalie, Ferster, Alina, Van Schaftingen, Emile, Veiga‐da‐Cunha, Maria

“…Neutropenia and neutrophil dysfunction found in deficiencies in G6PC3 and in the glucose‐6‐phosphate transporter (G6PT/SLC37A4) are due to accumulation of…”
Get full text

Molecular Identification of Carnosine Synthase as ATP-grasp Domain-containing Protein 1 (ATPGD1) by Drozak, Jakub, Veiga-da-Cunha, Maria, Vertommen, Didier, Stroobant, Vincent, Van Schaftingen, Emile

“…Carnosine (β-alanyl-l-histidine) and homocarnosine (γ-aminobutyryl-l-histidine) are abundant dipeptides in skeletal muscle and brain of most vertebrates and…”
Get full text

Inborn errors of metabolite repair by Veiga‐da‐Cunha, Maria, Van Schaftingen, Emile, Bommer, Guido T.

“…It is traditionally assumed that enzymes of intermediary metabolism are extremely specific and that this is sufficient to prevent the production of useless…”
Get full text

Phosphoglycolate has profound metabolic effects but most likely no role in a metabolic DNA response in cancer cell lines by Gerin, Isabelle, Bury, Marina, Baldin, Francesca, Graff, Julie, Van Schaftingen, Emile, Bommer, Guido T

“…Repair of a certain type of oxidative DNA damage leads to the release of phosphoglycolate, which is an inhibitor of triose phosphate isomerase and is predicted…”
Get more information

Identification of protein-ribulosamine-5-phosphatase as human low-molecular-mass protein tyrosine phosphatase-A by Fortpied, Juliette, Gemayel, Rita, Vertommen, Didier, Van Schaftingen, Emile

“…Ribulosamines, which are substrates for the deglycating enzyme fructosamine-3-kinase-related protein, are presumably formed intracellularly through glycation…”
Get full text

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation by Foulquier, François, Amyere, Mustapha, Jaeken, Jaak, Zeevaert, Renate, Schollen, Els, Race, Valérie, Bammens, Riet, Morelle, Willy, Rosnoblet, Claire, Legrand, Dominique, Demaegd, Didier, Buist, Neil, Cheillan, David, Guffon, Nathalie, Morsomme, Pierre, Annaert, Willem, Freeze, Hudson H., Van Schaftingen, Emile, Vikkula, Miikka, Matthijs, Gert

“…Protein glycosylation is a complex process that depends not only on the activities of several enzymes and transporters but also on a subtle balance between…”
Get full text

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency by Tegtmeyer, Laura C, Rust, Stephan, van Scherpenzeel, Monique, Ng, Bobby G, Losfeld, Marie-Estelle, Timal, Sharita, Raymond, Kimiyo, He, Ping, Ichikawa, Mie, Veltman, Joris, Huijben, Karin, Shin, Yoon S, Sharma, Vandana, Adamowicz, Maciej, Lammens, Martin, Reunert, Janine, Witten, Anika, Schrapers, Esther, Matthijs, Gert, Jaeken, Jaak, Rymen, Daisy, Stojkovic, Tanya, Laforêt, Pascal, Petit, François, Aumaître, Olivier, Czarnowska, Elzbieta, Piraud, Monique, Podskarbi, Teodor, Stanley, Charles A, Matalon, Reuben, Burda, Patricie, Seyyedi, Soraya, Debus, Volker, Socha, Piotr, Sykut-Cegielska, Jolanta, van Spronsen, Francjan, de Meirleir, Linda, Vajro, Pietro, DeClue, Terry, Ficicioglu, Can, Wada, Yoshinao, Wevers, Ron A, Vanderschaeghe, Dieter, Callewaert, Nico, Fingerhut, Ralph, van Schaftingen, Emile, Freeze, Hudson H, Morava, Eva, Lefeber, Dirk J, Marquardt, Thorsten

“…Two brothers with an undefined congenital disorder of glycosylation were found to have phosphoglucomutase 1 deficiency, which has previously been described as…”
Get full text

Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells by Demaegd, Didier, Foulquier, François, Colinet, Anne-Sophie, Gremillon, Louis, Legrand, Dominique, Mariot, Pascal, Peiter, Edgar, Van Schaftingen, Emile, Matthijs, Gert, Morsomme, Pierre

“…Defects in the human protein TMEM165 are known to cause a subtype of Congenital Disorders of Glycosylation. Transmembrane protein 165 (TMEM165) belongs to an…”
Get full text

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan by Gerin, Isabelle, Ury, Benoît, Breloy, Isabelle, Bouchet-Seraphin, Céline, Bolsée, Jennifer, Halbout, Mathias, Graff, Julie, Vertommen, Didier, Muccioli, Giulio G., Seta, Nathalie, Cuisset, Jean-Marie, Dabaj, Ivana, Quijano-Roy, Susana, Grahn, Ammi, Van Schaftingen, Emile, Bommer, Guido T.

“…Mutations in genes required for the glycosylation of α-dystroglycan lead to muscle and brain diseases known as dystroglycanopathies. However, the precise…”
Get full text

Binding of mannose-binding lectin to fructosamines: a potential link between hyperglycaemia and complement activation in diabetes by Fortpied, Juliette, Vertommen, Didier, Van Schaftingen, Emile

“…Background Complement activation via the MBL pathway has been proposed to play a role in the pathogenesis of diabetic complications. As protein glycation is…”
Get full text

A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair by Rzem, Rim, Achouri, Younes, Marbaix, Etienne, Schakman, Olivier, Wiame, Elsa, Marie, Sandrine, Gailly, Philippe, Vincent, Marie-Françoise, Veiga-da-Cunha, Maria, Van Schaftingen, Emile

“…The purpose of the present work was to progress in our understanding of the pathophysiology of L-2-hydroxyglutaric aciduria, due to a defect in…”
Get full text