Emile Van Schaftingen

Papers authored by Emile Van Schaftingen

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2014 Lc C. Laura C. Tegtmeyer, Monique van Scherpenzeel, M. van Scherpenzeel, Stephan Rust, Ys S. Shin, Sharita Timal, Kimiyo Raymond, Ping He, Joris A. Veltman, Bg G. Ng, Mie Ichikawa, Karin Huijben, Me-E. Losfeld, Vandana Sharma, Maciej Adamowicz and 39 other authors

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

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Isabelle Gerin, Gaetane Noël

, Jennifer Bolsée, Olivier Haumont, Emile Van Schaftingen

, Guido T. Bommer

Identification of TP53-induced glycolysis and apoptosis regulator (TIGAR) as the phosphoglycolate-independent 2,3-bisphosphoglycerate phosphatase.

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This paper is made freely available by the publisher.

Alexandre Yves Marbaix, Donatienne Tyteca, Tom Daniel Niehaus, Andrew D. Hanson, Carole Liette Linster, Emile Van Schaftingen

Occurrence and subcellular distribution of the NAD(P)HX repair system in mammals.

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Maria Veiga da Cunha, Nathalie Chevalier, Vincent Stroobant, Didier Vertommen, Emile Van Schaftingen

Metabolite Proofreading in Carnosine and Homocarnosine Synthesis

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2013 Katrin Koehler, Meera Malik, Saqib Mahmood, Sebastian Gießelmann, Christian Beetz, J. Christopher Hennings, J. Christopher Hennings, Antje K. Huebner, Ammi Grahn, Janine Reunert, Gudrun Nürnberg, Holger Thiele, Janine Altmüller

, Peter Nürnberg, Rizwan Mumtaz and 18 other authors

Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

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Simon Marlaire, Emile Van Schaftingen

, Maria Veiga da Cunha

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

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Didier Demaegd, François Foulquier, Anne-Sophie Colinet, Louis Gremillon, Dominique Legrand, Pascal Mariot, Edgar Peiter, Emile Van Schaftingen

, Gert Matthijs, Pierre Morsomme

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

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Benjamin Nota

, Eduard A. Struys, Ana Pop, Erwin E. Jansen, Matilde R. Fernandez Ojeda, Silvy J. M. van Dooren, Warsha A. Kanhai, Martijn Kranendijk, Marianna R. Bevova, Erik A. Sistermans, Aggie W. M. Nieuwint, Magalie Barth, Tawfeg Ben-Omran, Marjo S. van der Knaap, Georg F. Hoffmann and 13 other authors

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

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Carole L. Linster, Emile Van Schaftingen

, Andrew D. Hanson

Metabolite damage and its repair or pre-emption

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Emile Van Schaftingen

, Rim Rzem, Alexandre Marbaix, François Collard, Maria Veiga da Cunha, Carole L. Linster

Metabolite proofreading, a neglected aspect of intermediary metabolism.

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E. Van Schaftingen

Hexokinase/Glucokinase

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2012 Maria Veiga da Cunha, Nanda M. Verhoeven-Duif, Tom J. de Koning, Marinus Duran, Bert Dorland, Emile Van Schaftingen

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.

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Aurélie Méneret, Elsa Wiame, Cecilia Marelli, Timothée Lenglet, Emile Van Schaftingen

, Frédéric Sedel

A Serine Synthesis Defect Presenting With a Charcot-Marie-Tooth–Like Polyneuropathy

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François Foulquier, Mustapha Amyere, Jaak Jaeken, Renate Zeevaert, Els Schollen, Valérie Race, Riet Bammens, Willy Morelle, Claire Rosnoblet, Dominique Legrand, Didier Demaegd, Neil Buist, David Cheillan

, Nathalie Guffon, Pierre Morsomme and 5 other authors

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

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Maria Veiga da Cunha, Farah Hadi, Thomas Balligand, Vincent Stroobant, Emile Van Schaftingen

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

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2011 Gaëlle Tahay, Elsa Wiame, Donatienne Tyteca, Pierre J. Courtoy, Emile Van Schaftingen

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

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V. Goidts, J. Bageritz, L. Puccio, S. Nakata, M. Zapatka, S. Barbus, G. Toedt, B. Campos, A. Korshunov, S. Momma, E. Van Schaftingen

, G. Reifenberger, C. Herold-Mende, P. Lichter, B. Radlwimmer

RNAi screening in glioma stem-like cells identifies PFKFB4 as a key molecule important for cancer cell survival

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Carole L. Linster, Gaëtane Noël, Vincent Stroobant, Didier Vertommen, Marie-Françoise Vincent, Guido T. Bommer

, Maria Veiga-Da-Cunha, Emile Van Schaftingen

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

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Alexandre Y. Marbaix, Gaëtane Noël, Aline M. Detroux, Didier Vertommen, Emile Van Schaftingen

, Carole L. Linster

Extremely Conserved ATP- or ADP-dependent Enzymatic System for Nicotinamide Nucleotide Repair*

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François Collard, Didier Vertommen, Stefan Constantinescu, Lieven Buts, Emile Van Schaftingen

Molecular Identification of β-Citrylglutamate Hydrolase as Glutamate Carboxypeptidase 3*

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Papers authored by Emile Van Schaftingen