Unveiling Endoglin non canonical regulation: spotlight on the new role of the uPAR pathway
Gaëlle Munsch, Carole Proust, Clémence Deiber, Caroline Meguerditchian, Ilana Caro, Maud Tusseau, Alexandre Guilhem, S. Mohamed, Aurélie Goyenvalle, Stéphanie Debette, Béatrice Jaspard‐Vinassa, Sophie Dupuis‐Girod, David‐Alexandre Trégouët, Omar Soukarieh
This study identifies ENG 5UTR variants altering upstream ORFs that reduce Endoglin levels and links uPAR pathway loci to soluble Endoglin levels through proteogenomics and functional assays.
medRxiv · Jan 28, 2024 · PreprintGenetic & Genomic Medicine