Not logged in L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers Starosta, Rodrigo T.; He, Miao; Gracie, Sara; Kierstein, Janell; Thiel, Christian; Himmelreich, Nastassja; Liu, Yupeng; Zhang, Wenyue; Edmondson, Andrew C.; Meeks, Naomi; Larson, Austin; Van Hove, Johan L. K.; Kochhar, Aaina Share Save
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Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia 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, Bjoern; Thiel, Christian; Palm, Wilhelm; Meierhofer, David; van den Bogaart, Geert; Foulquier, Francois; Meinhardt, Andreas; Kornak, Uwe Share Save
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PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening Achleitner, Melanie T.; Jans, Judith J. M.; Ebner, Laura; Spenger, Johannes; Konstantopoulou, Vassiliki; Feichtinger, Rene G.; Brugger, Karin; Mayr, Doris; Wevers, Ron A.; Thiel, Christian; Wortmann, Saskia B.; Mayr, Johannes A. Share Save
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG Zdrazilova, L.; Rakosnikova, T.; Himmelreich, N.; Ondruskova, N.; Pasak, M.; Vanisova, M.; Volfova, N.; Honzik, T.; Thiel, C.; Hansikova, H. Share Save
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches Himmelreich, Nastassja; Kikul, Frauke; Zdrazilova, Lucie; Honzik, Tomas; Hecker, Andreas; Poschet, Gernot; Luechtenborg, Christian; Bruegger, Britta; Strahl, Sabine; Buerger, Friederike; Okun, Juergen G.; Hansikova, Hana; Thiel, Christian Share Save
Carnosinase-1 Knock-Out Reduces Kidney Fibrosis in Type-1 Diabetic Mice on High Fat Diet Pfeffer, Tilman; Wetzel, Charlotte; Kirschner, Philip; Bartosova, Maria; Poth, Tanja; Schwab, Constantin; Poschet, Gernot; Zemva, Johanna; Bulkescher, Ruben; Damgov, Ivan; Thiel, Christian; Garbade, Sven F. F.; Klingbeil, Kristina; Peters, Verena; Schmitt, Claus Peter Share Save
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Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature Himmelreich, Nastassja; Dimitrov, Bianca; Zielonka, Matthias; Hullen, Andreas; Hoffmann, Georg Friedrich; Juenger, Hendrik; Muller, Herbert; Lorenz, Imke; Busse, Birgit; Marschall, Christoph; Schluter, Gregor; Thiel, Christian Share Save
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings Wilson, Matthew P.; Garanto, Alejandro; Vairo, Filippo Pinto E.; Ng, Bobby G.; Ranatunga, Wasantha K.; Ventouratou, Marina; Baerenfaenger, Melissa; Huijben, Karin; Thiel, Christian; Ashikov, Angel; Keldermans, Liesbeth; Souche, Erika; Vuillaumier-Barrot, Sandrine; Dupre, Thierry; Michelakakis, Helen; Fiumara, Agata; Pitt, James; White, Susan M.; Lim, Sze Chern; Gallacher, Lyndon; Peters, Heidi; Rymen, Daisy; Witters, Peter; Ribes, Antonia; Morales-Romero, Blai; Rodriguez-Palmero, Agusti; Ballhausen, Diana; de Lonlay, Pascale; Barone, Rita; Janssen, Mirian C. H.; Jaeken, Jaak; Freeze, Hudson H.; Matthijs, Gert; Morava, Eva; Lefeber, Dirk J. Share Save
A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder Feichtinger, Rene G.; Huellen, Andreas; Koller, Andreas; Kotzot, Dieter; Grote, Valerian; Rapp, Erdmann; Hofbauer, Peter; Brugger, Karin; Thiel, Christian; Mayr, Johannes A.; Wortmann, Saskia B. Share Save
A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation Gucum, Sevinc; Sakson, Roman; Hoffmann, Marcus; Grote, Valerian; Becker, Clara; Pakari, Kaisa; Beedgen, Lars; Thiel, Christian; Rapp, Erdmann; Ruppert, Thomas; Thumberger, Thomas; Wittbrodt, Joachim Share Save
Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell-cell adhesion Noor, Sina Ibne; Hoffmann, Marcus; Rinis, Natalie; Bartels, Markus F.; Winterhalter, Patrick R.; Hoelscher, Christina; Hennig, Rene; Himmelreich, Nastassja; Thiel, Christian; Ruppert, Thomas; Rapp, Erdmann; Strahl, Sabine Share Save
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa (vol 100, pg 216, 2017) Van Damme, Tim; Gardeitchik, Thatjana; Mohamed, Miski; Guerrero-Castillo, Sergio; Freisinger, Peter; Guillemyn, Brecht; Kariminejad, Ariana; Dalloyaux, Daisy; van Kraaij, Sanne; Lefeber, Dirk J.; Syx, Delfien; Steyaert, Wouter; De Rycke, Riet; Hoischen, Alexander; Kamsteeg, Erik-Jan; Wong, Sunnie Y.; van Scherpenzeel, Monique; Jamali, Payman; Brandt, Ulrich; Nijtmans, Leo; Korenke, G. Christoph; Chung, Brian H. Y.; Mak, Christopher C. Y.; Hausser, Ingrid; Kornak, Uwe; Fischer-Zirnsak, Bjorn; Strom, Tim M.; Meitinger, Thomas; Alanay, Yasemin; Utine, Gulen E.; Leung, Kai Ching Peter; Ghaderi-Sohi, Siavash; Coucke, Paul; Symoens, Sofie; De Paepe, Anne; Thiel, Christian; Haack, Tobias B.; Malfait, Fransiska; Morava, Eva; Callewaert, Bert; Wevers, Ron A. Share Save
The lysosomal transporter MFSD1 is essential for liver homeostasis and critically depends on its accessory subunit GLMP Lopez, David Massa; Thelen, Melanie; Stahl, Felix; Thiel, Christian; Linhorst, Arne; Sylvester, Marc; Hermanns-Borgmeyer, Irm; Luellmann-Rauch, Renate; Eskild, Winnie; Saftig, Paul; Damme, Markus Share Save
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