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Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells Kentache, Takfarinas; Althoff, Charlotte R.; Caligiore, Francesco; Souche, Erika; Schulz, Celine; Graff, Julie; Pieters, Eline; Stanley, Pamela; Contessa, Joseph N.; Van Schaftingen, Emile; Matthijs, Gert; Foulquier, Francois; Bommer, Guido T.; Wilson, Matthew P. 分享 收藏
ACAD10 and ACAD11 allow entry of 4-hydroxy fatty acids into β-oxidation Paquay, Stephanie; Duraffourd, Julia; Bury, Marina; Heremans, Isaac P.; Caligiore, Francesco; Gerin, Isabelle; Stroobant, Vincent; Jacobs, Jean; Pinon, Aymeric; Graff, Julie; Vertommen, Didier; Van Schaftingen, Emile; Dewulf, Joseph P.; Bommer, Guido T. 分享 收藏
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants 由单等位基因HK1变体引起的神经发育障碍的临床，神经影像学和代谢足迹 Wortmann, Saskia B.; Feichtinger, Rene G.; Abela, Lucia; van Gemert, Loes A.; Aubart, Melodie; Dufeu-Berat, Claire-Marine; Boddaert, Nathalie; de Coo, Rene; Stuehn, Lara; Hebbink, Jasmijn; Heinritz, Wolfram; Hildebrandt, Julia; Himmelreich, Nastassja; Korenke, Christoph; Lehman, Anna; Leyland, Thomas; Makowski, Christine; Martinez Marin, Rafael Jenaro; Marzin, Pauline; Muehlhausen, Chris; Rio, Marlene; Rotig, Agnes; Roux, Charles-Joris; Schiff, Manuel; Haack, Tobias B.; Syrbe, Steffen; Zylicz, Stas A.; Thiel, Christian; Veiga da Cunha, Maria; van Schaftingen, Emile; Wagner, Matias; Mayr, Johannes A.; Wevers, Ron A.; Boltshauser, Eugen; Willemsen, Michel A. 分享 收藏
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A protein mutated in Parkinson's disease prevents damage of metabolites and proteins caused by a glycolytic metabolite Heremans, Isaac P.; Caligiore, Francesco; Gerin, Isabelle; Bury, Marina; Lutz, Marilena; Graff, Julie; Stroobant, Vincent; Vertommen, Didier; Teleman, Aurelio; Van Schaftingen, Emile; Bommer, Guido T. 分享 收藏
Parkinson's disease protein PARK7 prevents metabolite and protein damage caused by a glycolytic metabolite 帕金森氏病蛋白PARK7可预防糖酵解代谢物引起的代谢物和蛋白质损伤 Heremans, Isaac P.; Caligiore, Francesco; Gerin, Isabelle; Bury, Marina; Lutz, Marilena; Graff, Julie; Stroobant, Vincent; Vertommen, Didier; Teleman, Aurelio A.; Van Schaftingen, Emile; Bommer, Guido T. 分享 收藏
Molecular damage in aging 衰老中的分子损伤 Gladyshev, Vadim N.; Kritchevsky, Stephen B.; Clarke, Steven G.; Cuervo, Ana Maria; Fiehn, Oliver; de Magalhaes, Joao Pedro; Mau, Theresa; Maes, Michal; Moritz, Robert L.; Niedernhofer, Laura J.; Van Schaftingen, Emile; Tranah, Gregory J.; Walsh, Kenneth; Yura, Yoshimitsu; Zhang, Bohan; Cummings, Steven R. 分享 收藏
NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay Muffels, Irena J. J.; Wiame, Elsa; Fuchs, Sabine A.; Massink, Maarten P. G.; Rehmann, Holger; Musch, Jiska L., I; Van Haaften, Gijs; Vertommen, Didier; van Schaftingen, Emile; van Hasselt, Peter M. 分享 收藏
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C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation Lausberg, Eva; Giesselmann, Sebastian; Dewulf, Joseph P.; Wiame, Elsa; Holz, Anja; Salvarinova, Ramona; van Karnebeek, Clara D.; Klemm, Patricia; Ohl, Kim; Mull, Michael; Braunschweig, Till; Weis, Joachim; Sommer, Clemens J.; Demuth, Stephanie; Haase, Claudia; Stollbrink-Peschgens, Claudia; Debray, Francois-Guillaume; Libioulle, Cecile; Choukair, Daniela; Oommen, Prasad T.; Borkhardt, Arndt; Surowy, Harald; Wieczorek, Dagmar; Wagner, Norbert; Meyer, Robert; Eggermann, Thomas; Begemann, Matthias; Van Schaftingen, Emile; Hausler, Martin; Tenbrock, Klaus; van den Heuvel, Lambert; Elbracht, Miriam; Kurth, Ingo; Kraft, Florian 分享 收藏
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder Morava, Eva; Schatz, Ulrich A.; Torring, Pernille M.; Abbott, Mary-Alice; Baumann, Matthias; Brasch-Andersen, Charlotte; Chevalier, Nathalie; Dunkhase-Heinl, Ulrike; Fleger, Martin; Haack, Tobias B.; Nelson, Stephen; Potelle, Sven; Radenkovic, Silvia; Bommer, Guido T.; Van Schaftingen, Emile; Veiga-da-Cunha, Maria 分享 收藏
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations Fusaro, Mathieu; Vincent, Aline; Castelle, Martin; Rosain, Jeremie; Fournier, Benjamin; Veiga-da-Cunha, Maria; Kentache, Takfarinas; Serre, Jill; Fallet-Bianco, Catherine; Delezoide, Anne-Lise; Renesme, Laurent; Picard, Fanny Morice; Lasseaux, Eulalie; Aladjidi, Nathalie; Seta, Nathalie; Cormier-Daire, Valerie; van Schaftingen, Emile; Neven, Benedicte; Moshous, Despina; Blesson, Sophie; Picard, Capucine 分享 收藏
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