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Displaying 4 results.
    • Journal article
    TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation.
    Foulquier, François Amyere, Mustapha Jaeken, Jaak Zeevaert, Renate Schollen, Els Race, Valérie Bammens, Riet Morelle, Willy Rosnoblet, Claire Legrand, Dominique Demaegd, Didier[UCL] Buist, Neil Cheillan, David Guffon, Nathalie Morsomme, Pierre[UCL] Annaert, Willem Freeze, Hudson H Van Schaftingen, Emile Vikkula, Miikka Matthijs, Gert (2012) American Journal of Human Genetics — Vol. 91, no. 1, p. 15-26 (2012)
    • Journal article
    A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation
    Foulquier, Francois Ungar, Daniel Reynders, Ellen Zeevaert, Renate Mills, Philippa Garcia-Silva, Maria Teresa Briones, Paz Winchester, Bryan Morelle, Willy Krieger, Monty Annaert, Willem Matthijs, Gert (2007) Human Molecular Genetics — Vol. 16, no. 7, p. 717-730 (2007)
    • 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)