PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

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Date: July 20, 2023
Authors:
Alexej Knaus, Andrea Accogli, Andrea Seeley, Anita E Beck, Anne-Claire Gélineau, Arnaud Droit, Benjamin Cogné, Bertrand Isidor, Boris Keren, Bruce Bennetts, Cara Forster, Charlotte de Konink, Cory Rosenfelt, Cyril Mignot, Daniel J Wegner, Dustin Baldridge, Elke Hammer, Elke Krüger, Evan E. Eichler, Francesca Forzano, François Bolduc, Frédéric Ebstein, Frédéric Laumonnier, F Sessions Cole, Geeske M. van Woerden, Geneviève Baujat, Giulia Barcia, Hakon Hakonarson, Jennifer Ann Brault, Jennifer A Wambach, Jennifer Morrison, Johannes Adalbert Mayr, Jonas Johannes Papendorf, Judith Haasters, Kelly Averill, Kristine Bachman, Lesley Ades, Maja Studencka-Turski, Marie-José H van den Boogaard, Marie-Pier Scott-Boyer, Marjolijn C J Jongmans, Martin Preisel, Matthew Osmond, Meghan Towne, Melissa T Carter, Neda Zadeh, Patricia G. Wheeler, Peter Krawitz, Peter W Hildebrand, Rachel Harrison, Rachel Westman, René Günther Feichtinger, Richard Golnik, Richard H van Jaarsveld, Sandra Yang, Selina M W Teurlings, Shehla Mohammed, Sophie Rondeau, Stéphane Bézieau, Sébastien Küry, Theresa Brunet, Thomas Besnard, Tianyun Wang, Tilmann Kallinich, Tzung-Chien Hsieh, Uwe Völker, Vickie Hannig, Victoria Most, Virginie Vignard, Wallid Deb, Yannis Trakadis, Yiran Guo, Ype Elgersma, Zöe Powis
Journal: Science translational medicine
Journal Volume: 15