Works by Foulquier, François


Results: 48
    1

    Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.

    Published in:
    Cellular & Molecular Life Sciences, 2025, v. 82, n. 1, p. 1, doi. 10.1007/s00018-025-05759-w
    By:
    • Jáñez Pedrayes, Andrea;
    • De Craemer, Sam;
    • Idkowiak, Jakub;
    • Verdegem, Dries;
    • Thiel, Christian;
    • Barone, Rita;
    • Serrano, Mercedes;
    • Honzík, Tomáš;
    • Morava, Eva;
    • Vermeersch, Pieter;
    • Foulquier, François;
    • Morelle, Willy;
    • Swinnen, Johannes V.;
    • Rymen, Daisy;
    • Cassiman, David;
    • Ghesquière, Bart;
    • Witters, Peter
    Publication type:
    Article
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    Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.

    Published in:
    Cellular & Molecular Life Sciences, 2024, v. 82, n. 1, p. 1, doi. 10.1007/s00018-024-05506-7
    By:
    • Kopp, Johannes;
    • Jahn, Denise;
    • Vogt, Guido;
    • Psoma, Anthi;
    • Ratto, Edoardo;
    • Morelle, Willy;
    • Stelzer, Nina;
    • Hausser, Ingrid;
    • Hoffmann, Anne;
    • de los Santos, Miguel Rodriguez;
    • Koch, Leonard A.;
    • Fischer-Zirnsak, Björn;
    • Thiel, Christian;
    • Palm, Wilhelm;
    • Meierhofer, David;
    • van den Bogaart, Geert;
    • Foulquier, François;
    • Meinhardt, Andreas;
    • Kornak, Uwe
    Publication type:
    Article
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    MAN1B1 Deficiency: An Unexpected CDG-II.

    Published in:
    PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1003989
    By:
    • 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
    Publication type:
    Article
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    COG5-CDG: expanding the clinical spectrum.

    Published in:
    Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-94
    By:
    • Rymen, Daisy;
    • Keldermans, Liesbeth;
    • Race, Valérie;
    • Régal, Luc;
    • Deconinck, Nicolas;
    • Dionisi-Vici, Carlo;
    • Fung, Cheuk-wing;
    • Sturiale, Luisa;
    • Rosnoblet, Claire;
    • Foulquier, François;
    • Matthijs, Gert;
    • Jaeken, Jaak
    Publication type:
    Article
    16

    COG5-CDG: expanding the clinical spectrum.

    Published in:
    2012
    By:
    • Rymen, Daisy;
    • Keldermans, Liesbeth;
    • Race, Valérie;
    • Régal, Luc;
    • Deconinck, Nicolas;
    • Dionisi-Vici, Carlo;
    • Fung, Cheuk-Wing;
    • Sturiale, Luisa;
    • Rosnoblet, Claire;
    • Foulquier, François;
    • Matthijs, Gert;
    • Jaeken, Jaak
    Publication type:
    journal article
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    Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1349, doi. 10.1002/jimd.12291
    By:
    • Haouari, Walid;
    • Dubail, Johanne;
    • Lounis‐Ouaras, Samra;
    • Prada, Pierre;
    • Bennani, Rizk;
    • Roseau, Charles;
    • Huber, Céline;
    • Afenjar, Alexandra;
    • Colin, Estelle;
    • Vuillaumier‐Barrot, Sandrine;
    • Seta, Nathalie;
    • Foulquier, François;
    • Poüs, Christian;
    • Cormier‐Daire, Valérie;
    • Bruneel, Arnaud
    Publication type:
    Article
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    RFT1 deficiency in three novel CDG patients.

    Published in:
    Human Mutation, 2009, v. 30, n. 10, p. 1428, doi. 10.1002/humu.21085
    By:
    • Vleugels, Wendy;
    • Haeuptle, Micha A.;
    • Ng, Bobby G.;
    • Michalski, Jean-Claude;
    • Battini, Roberta;
    • Dionisi-Vici, Carlo;
    • Ludman, Mark D.;
    • Jaeken, Jaak;
    • Foulquier, François;
    • Freeze, Hudson H.;
    • Matthijs, Gert;
    • Hennet, Thierry
    Publication type:
    Article
    23

    Glycosylation disorders of membrane trafficking.

    Published in:
    Glycoconjugate Journal, 2013, v. 30, n. 1, p. 23, doi. 10.1007/s10719-012-9389-y
    By:
    • Rosnoblet, Claire;
    • Peanne, Romain;
    • Legrand, Dominique;
    • Foulquier, François
    Publication type:
    Article
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    Investigating the functional link between TMEM165 and SPCA1.

    Published in:
    Biochemical Journal, 2019, v. 476, n. 21, p. 3281, doi. 10.1042/BCJ20190488
    By:
    • Lebredonchel, Elodie;
    • Houdou, Marine;
    • Hoffmann, Hans-Heinrich;
    • Kondratska, Kateryna;
    • Krzewinski, Marie-Ange;
    • Vicogne, Dorothée;
    • Rice, Charles M.;
    • Klein, André;
    • Foulquier, François
    Publication type:
    Article
    33

    Manganese-induced turnover of TMEM165.

    Published in:
    Biochemical Journal, 2017, v. 474, n. 9, p. 1481, doi. 10.1042/BCJ20160910
    By:
    • 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
    Publication type:
    Article
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    SLC37A4‐CDG: Second patient.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 122, doi. 10.1002/jmd2.12195
    By:
    • Wilson, Matthew P.;
    • Quelhas, Dulce;
    • Leão‐Teles, Elisa;
    • Sturiale, Luisa;
    • Rymen, Daisy;
    • Keldermans, Liesbeth;
    • Race, Valérie;
    • Souche, Erika;
    • Rodrigues, Esmeralda;
    • Campos, Teresa;
    • Van Schaftingen, Emile;
    • Foulquier, François;
    • Garozzo, Domenico;
    • Matthijs, Gert;
    • Jaeken, Jaak
    Publication type:
    Article
    38

    Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

    Published in:
    Human Mutation, 2017, v. 38, n. 2, p. 148, doi. 10.1002/humu.23145
    By:
    • Matalonga, Leslie;
    • Bravo, Miren;
    • Serra‐Peinado, Carla;
    • García‐Pelegrí, Elisabeth;
    • Ugarteburu, Olatz;
    • Vidal, Silvia;
    • Llambrich, Maria;
    • Quintana, Ester;
    • Fuster‐Jorge, Pedro;
    • Gonzalez‐Bravo, Maria Nieves;
    • Beltran, Sergi;
    • Dopazo, Joaquin;
    • Garcia‐Garcia, Francisco;
    • Foulquier, François;
    • Matthijs, Gert;
    • Mills, Philippa;
    • Ribes, Antonia;
    • Egea, Gustavo;
    • Briones, Paz;
    • Tort, Frederic
    Publication type:
    Article
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    The extended cytoplasmic tail of the human B4GALNT2 is critical for its Golgi targeting and post‐Golgi sorting.

    Published in:
    FEBS Journal, 2018, v. 285, n. 18, p. 3442, doi. 10.1111/febs.14621
    By:
    • Groux‐Degroote, Sophie;
    • Schulz, Céline;
    • Cogez, Virginie;
    • Noël, Maxence;
    • Portier, Lucie;
    • Vicogne, Dorothée;
    • Solorzano, Carlos;
    • Dall'Olio, Fabio;
    • Steenackers, Agata;
    • Mortuaire, Marlène;
    • Gonzalez‐Pisfil, Mariano;
    • Henry, Mélanie;
    • Foulquier, François;
    • Héliot, Laurent;
    • Harduin‐Lepers, Anne
    Publication type:
    Article