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Displaying 5 results.
    • Journal article
    The promiscuous binding pocket of SLC35A1 ensures redundant transport of CDP-ribitol to the Golgi.
    Ury, Benoît[UCL] Potelle, Sven[UCL] Caligiore, Francesco[UCL] Whorton, Matthew R Bommer, Guido[UCL] (2021) The Journal of biological chemistry — Vol. 296, p. 100789 (2021)
    • Journal article
    Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.
    Morava E Schatz UA Torring PM Abbott MA Baumann M Brasch-Andersen C Chevalier, Nathalie[UCL] Dunkhase-Heinl U Fleger M Haack TB Nelson S Potelle, Sven[UCL] Radenkovic S Bommer, Guido[UCL] Van Schaftingen, Emile[UCL] Veiga da Cunha, Maria[UCL] (2021) American journal of human genetics — Vol. 108, no.6, p. 1151-1160 (2021)
    • 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
    Manganese-induced turnover of TMEM165
    Potelle, Sven Dulary, Eudoxie[UCL] Climer, Leslie Duvet, Sandrine Morelle, Willy[UCL] Vicogne, Dorothée[UCL] Lebredonchel, Elodie[UCL] Houdou, Marine[UCL] Spriet, Corentin[UCL] Krzewinski-Recchi, Marie-Ange[UCL] Peanne, Romain Klein, André de Bettignies, Geoffroy[UCL] Morsomme, Pierre[UCL] Matthijs, Gert Marquardt, Thorsten Lupashin, Vladimir Foulquier, François (2017) Biochemical Journal — Vol. 474, p. 1481-1493
    • 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)