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Displaying 3 results.
    • Journal article
    Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
    Maia, Nuno Potelle, Sven[UCL] Yildirim, Hamide Duvet, Sandrine Akula, Shyam K Schulz, Celine Wiame, Elsa[UCL] Gheldof, Alexander O'Kane, Katherine Lai, Abbe Sermon, Karen Proisy, Maïa Loget, Philippe Attié-Bitach, Tania Quelin, Chloé Fortuna, Ana Maria Soares, Ana Rita de Brouwer, Arjan P M Van Schaftingen, Emile[UCL] Nassogne, Marie-Cécile[UCL] Walsh, Christopher A Stouffs, Katrien Jorge, Paula Jansen, Anna C Foulquier, François (2022) American journal of human genetics — Vol. 109, no. 2, p. 345-360 (2022)
    • Journal article
    Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II.
    Rosnoblet, Claire Legrand, Dominique Demaegd, Didier[UCL] Hacine-Gherbi, Hêla de Bettignies, Geoffroy Bammens, Riet Borrego, Cindy Duvet, Sandrine Morsomme, Pierre[UCL] Matthijs, Gert Foulquier, François (2013) Human Molecular Genetics — Vol. 22, no. 14, p. 2914-2928 (2013)
    • Journal article
    Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis.
    Potelle, Sven Morelle, Willy Dulary, Eudoxie Duvet, Sandrine Vicogne, Dorothée Spriet, Corentin Krzewinski-Recchi, Marie-Ange Morsomme, Pierre[UCL] Jaeken, Jaak Matthijs, Gert De Bettignies, Geoffroy Foulquier, François (2016) Human Molecular Genetics — Vol. 25, no.8, p. 1489-1500 (2016)