<i>PCYT2</i> mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway
Jonathan De Winter, Danique Beijer, Willem De Ridder, Matthis Synofzik, Stephan Züchner, Philip Van Damme, Werner Spileers, Jonathan Baets
Abstract
sponsorship: European Union's Horizon 2020 Research and Innovation Program under the ERA-NET Co fund action No. 643578 under the frame of the E-Rare-3 network PREPARE, grant779257 Solve-RD from the Horizon 2020 Research and Innovation Programme (to M.S. and as an associated partner to J.B). D.B. is supported by a DOCPRO4 Antwerp University Research Fund (BOF) project grant under agreement number DOCPRO2016-33497. P.V.D. holds a senior clinical investigatorship of FWO-Vlaanderen and is supported by the E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders, the ALS Liga Belgie and the KU Leuven funds "Een Hart voor ALS", "Laeversfonds voor ALS Onderzoek" and the "Valery Perrier Race against ALS Fund". J.B. is supported by a Senior Clinical Researcher mandate of the Research Fund -Flanders (FWO) under grant agreement number 1805016N. Several authors of this publication are member of the European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD) and of the European Reference Network for Rare Neurological Diseases (ERN-RND). (European Union|643578, European Union|779257, DOCPRO4 Antwerp University Research Fund (BOF) project|DOCPRO2016-33497, E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders, ALS Liga Belgie, KU Leuven fund "Een Hart voor ALS", KU Leuven fund "Laeversfonds voor ALS Onderzoek", KU Leuven fund "Valery Perrier Race against ALS Fund", Research Fund -Flanders (FWO)|1805016N)