Zwartkruis

Associate Professor

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Recent publications

The long-term effect of mTOR inhibition on lipid and glucose metabolism in tuberous sclerosis complex Femke V.M. Mulder, Evelien F.H.I. Peeters, Jan Westerink, Fried J.T. Zwartkruis, Wendela L. de Ranitz-Greven
Orphanet Journal of Rare Diseases, 2022, vol. 17
Phosphoproteomic Analysis of FLCN Inactivation Highlights Differential Kinase Pathways and Regulatory TFEB Phosphoserines Iris E. Glykofridis, Alex A. Henneman, Jesper A. Balk, Richard Goeij De Haas, Denise Westland, Sander R. Piersma, Jaco C. Knol, Thang V. Pham, Michiel Boekhout, Fried J.T. Zwartkruis, Rob M.F. Wolthuis, Connie R. Jimenez
Molecular and Cellular Proteomics, 2022, vol. 21
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation Reini E N van der Welle, Rebekah Jobling, Christian Burns, Paolo Sanza, Jan A van der Beek, Alfonso Fasano, Lan Chen, Fried J Zwartkruis, Susan Zwakenberg, Edward F Griffin, Corlinda Ten Brink, Tineke Veenendaal, Nalan Liv, Conny M A van Ravenswaaij-Arts, Henny H Lemmink, Rolph Pfundt, Susan Blaser, Carolina Sepulveda, Andres M Lozano, Grace Yoon, Teresa Santiago-Sim, Cedric S Asensio, Guy A Caldwell, Kim A Caldwell, David Chitayat, Judith Klumperman
Embo Molecular Medicine, 2021, vol. 13, p.1-24
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay Lynne Rumping, Federico Tessadori, Petra J.W. Pouwels, Esmee Vringer, Jannie P. Wijnen, Alex A. Bhogal, Sanne M.C. Savelberg, Karen J. Duran, Mark J.G. Bakkers, Rúben J.J. Ramos, Peter A.W. Schellekens, Hester Y. Kroes, Dennis W.J. Klomp, Graeme C.M. Black, Rachel L. Taylor, Jeroen P.W. Bakkers, Hubertus C.M.T. Prinsen, Marjo S. van der Knaap, Tobias B. Dansen, Holger Rehmann, Fried J.T. Zwartkruis, Roderick H.J. Houwen, Gijs van Haaften, Nanda M. Verhoeven-Duif, Judith J.M. Jans, Peter M. van Hasselt
Human Molecular Genetics, 2019, vol. 28, p.96-104
Discovery of pyridoxal reductase activity as part of human vitamin B6 metabolism Rúben J Ramos, Monique Albersen, Esmee Vringer, Marjolein Bosma, Susan Zwakenberg, Fried Zwartkruis, Judith J M Jans, Nanda M Verhoeven-Duif
Biochimica et biophysica acta-General subjects, 2019, vol. 1863, p.1088-1097
MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy Melissa H. Broeks, Hanan E. Shamseldin, Amal Alhashem, Mais Hashem, Firdous Abdulwahab, Tarfa Alshedi, Iman Alobaid, Fried Zwartkruis, Denise Westland, Sabine Fuchs, Nanda M. Verhoeven-Duif, Judith J.M. Jans, Fowzan S. Alkuraya
Human Genetics, 2019, vol. 138, p.1247-1257