Use of Endoglycosidase H as a diagnostic tool for MAN1B1‐CDG patients
Duvet, Sandrine, Mouajjah, Dounia, Péanne, Romain, Matthijs, Gert, Raymond, Kimiyo, Jaeken, Jaak, Morava, Eva, Foulquier, François
Published in Electrophoresis (01.12.2018)
Published in Electrophoresis (01.12.2018)
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Journal Article
Glycosylation disorders of membrane trafficking
Rosnoblet, Claire, Peanne, Romain, Legrand, Dominique, Foulquier, François
Published in Glycoconjugate journal (2013)
Published in Glycoconjugate journal (2013)
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Journal Article
MAN1B1 deficiency: an unexpected CDG-II
Rymen, Daisy, Peanne, Romain, Millón, María B, Race, Valérie, Sturiale, Luisa, Garozzo, Domenico, Mills, Philippa, Clayton, Peter, Asteggiano, Carla G, Quelhas, Dulce, Cansu, Ali, Martins, Esmeralda, Nassogne, Marie-Cécile, Gonçalves-Rocha, Miguel, Topaloglu, Haluk, Jaeken, Jaak, Foulquier, François, Matthijs, Gert
Published in PLoS genetics (2013)
Published in PLoS genetics (2013)
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Journal Article
Congenital disorders of glycosylation (CDG): Quo vadis?
Péanne, Romain, de Lonlay, Pascale, Foulquier, François, Kornak, Uwe, Lefeber, Dirk J., Morava, Eva, Pérez, Belén, Seta, Nathalie, Thiel, Christian, Van Schaftingen, Emile, Matthijs, Gert, Jaeken, Jaak
Published in European journal of medical genetics (01.11.2018)
Published in European journal of medical genetics (01.11.2018)
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Journal Article
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype
Blommaert, Eline, Péanne, Romain, Cherepanova, Natalia A., Rymen, Daisy, Staels, Frederik, Jaeken, Jaak, Race, Valérie, Keldermans, Liesbeth, Souche, Erika, Corveleyn, Anniek, Sparkes, Rebecca, Bhattacharya, Kaustuv, Devalck, Christine, Schrijvers, Rik, Foulquier, François, Gilmore, Reid, Matthijs, Gert
Published in Proceedings of the National Academy of Sciences - PNAS (14.05.2019)
Published in Proceedings of the National Academy of Sciences - PNAS (14.05.2019)
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Journal Article
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects
Rujano, Maria A, Cannata Serio, Magda, Panasyuk, Ganna, Péanne, Romain, Reunert, Janine, Rymen, Daisy, Hauser, Virginie, Park, Julien H, Freisinger, Peter, Souche, Erika, Guida, Maria Clara, Maier, Esther M, Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan J, Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas D, Raskind, Wendy H, Schwake, Michael, Duvet, Sandrine, Foulquier, Francois, Matthijs, Gert, Marquardt, Thorsten, Simons, Matias
Published in The Journal of experimental medicine (04.12.2017)
Published in The Journal of experimental medicine (04.12.2017)
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Journal Article
Manganese-induced turnover of TMEM165
Potelle, Sven, Dulary, Eudoxie, Climer, Leslie, Duvet, Sandrine, Morelle, Willy, Vicogne, Dorothée, Lebredonchel, Elodie, Houdou, Marine, Spriet, Corentin, Krzewinski-Recchi, Marie-Ange, Peanne, Romain, Klein, André, de Bettignies, Geoffroy, Morsomme, Pierre, Matthijs, Gert, Marquardt, Thorsten, Lupashin, Vladimir, Foulquier, François
Published in Biochemical journal (01.05.2017)
Published in Biochemical journal (01.05.2017)
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Journal Article
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
VAN SCHERPENZEEL, Monique, TIMAL, Sharita, GRØNBORG, Sabine, RUIJTER, George, KATTENTIDT-MOURAVIEVA, Anna, MORITZ BRUM, Jaime, FRECKMANN, Mary-Louise, TOMKINS, Susan, JALAN, Anil, PROCHAZKOVA, Dagmar, ONDRUSKOVA, Nina, HANSIKOVA, Hana, RYMEN, Daisy, WILLEMSEN, Michel A, HENSBERGEN, Paul J, MATTHIJS, Gert, WEVERS, Ron A, VELTMAN, Joris A, MORAVA, Eva, LEFEBER, Dirk J, HOISCHEN, Alexander, WUHRER, Manfred, HIPGRAVE-EDERVEEN, Agnes, GRUNEWALD, Stephanie, PEANNE, Romain, SAADA, Ann, EDVARDSON, Shimon
Published in Brain (London, England : 1878) (01.04.2014)
Published in Brain (London, England : 1878) (01.04.2014)
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Journal Article
Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of β1,4-galactosyltransferase 1 and α2,6-sialyltransferase 1
Peanne, Romain, Legrand, Dominique, Duvet, Sandrine, Mir, Anne-Marie, Matthijs, Gert, Rohrer, Jack, Foulquier, François
Published in Glycobiology (Oxford) (01.07.2011)
Published in Glycobiology (Oxford) (01.07.2011)
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Journal Article
Assessing ER and Golgi N-Glycosylation Process Using Metabolic Labeling in Mammalian Cultured Cells
Péanne, Romain, Vanbeselaere, Jorick, Vicogne, Dorothée, Mir, Anne-Marie, Biot, Christophe, Matthijs, Gert, Guérardel, Yann, Foulquier, François
Published in Methods in Cell Biology (2013)
Published in Methods in Cell Biology (2013)
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Book Chapter
Journal Article
Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I)
Vleugels, Wendy, Duvet, Sandrine, Peanne, Romain, Mir, Anne-Marie, Cacan, René, Michalski, Jean-Claude, Matthijs, Gert, Foulquier, François
Published in Biochimie (01.05.2011)
Published in Biochimie (01.05.2011)
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Journal Article
MAN1B1 Deficiency: An Unexpected CDG-II: e1003989
Rymen, Daisy, Peanne, Romain, Millón, María B, Race, Valérie, Sturiale, Luisa, Garozzo, Domenico, Mills, Philippa, Clayton, Peter, Asteggiano, Carla G, Quelhas, Dulce, Cansu, Ali, Martins, Esmeralda, Nassogne, Marie-Cécile, Gonçalves-Rocha, Miguel, Topaloglu, Haluk, Jaeken, Jaak, Foulquier, François, Matthijs, Gert
Published in PLoS genetics (01.12.2013)
Published in PLoS genetics (01.12.2013)
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Journal Article
Chapter 10 - Assessing ER and Golgi N-Glycosylation Process Using Metabolic Labeling in Mammalian Cultured Cells
Peanne, Romain, Vanbeselaere, Jorick, Vicogne, Dorothee, Mir, Anne-Marie, Biot, Christophe, Matthijs, Gert, Guerardel, Yann, Foulquier, Francois
Published in Methods in cell biology (01.01.2013)
Published in Methods in cell biology (01.01.2013)
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Journal Article
MAN1B1 deficiency: an unexpected CDG-II
Rymen, Daisy, Peanne, Romain, Million, Maria B, Race, Valerie, Sturiale, Luisa, Garozzo, Domenico, Mills, Philippa, Clayton, Peter, Asteggiano, Carla G, Quelhas, Dulce, Cansu, Ali, Martins, Esmeralda, Nassogne, Marie- Cecile, Goncalves-Rocha, Miguel, Topaloglu, Haluk, Jaeken, Jaak, Foulquier, Francois, Matthijs, Gert
Published in PLoS genetics (01.12.2013)
Published in PLoS genetics (01.12.2013)
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Journal Article
Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of {beta}1,4-galactosyltransferase 1 and {alpha}2,6-sialyltransferase 1
Peanne, Romain, Legrand, Dominique, Duvet, Sandrine, Mir, Anne-Marie, Matthijs, Gert, Rohrer, Jack, Foulquier, François
Published in Glycobiology (Oxford) (01.07.2011)
Published in Glycobiology (Oxford) (01.07.2011)
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Journal Article