Research & Innovation
Publications
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
PMU Authors
René Feichtinger, Johannes A. Mayr
All Authors
Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M W Teurlings, Virginie Vignard, Richard H van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C J Jongmans, F Sessions Cole, Marie-José H van den Boogaard, Jennifer A Wambach, Daniel J Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T Carter, Matthew Osmond, Patricia G Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Feichtinger, Johannes A. Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E Eichler, Ype Elgersma, Peter W Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau
Journal association
SCIENCE TRANSLATIONAL MEDICINE
Abstract
Keywords
Humans, EXPRESSION, Animals, MUTATIONS, MICE, Degradation, NEURODEGENERATION, INHIBITORS, PROTEIN-KINASE, PROTEOMICS, DISRUPTION, AUTISM SPECTRUM DISORDERS, IMMUNOPROTEASOMES, FLEXIBILITY, Gene Expression, Proteasome Endopeptidase Complex/metabolism, Adenosine Triphosphatases/genetics, Interferon Type I, Drosophila melanogaster