Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
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Authors: Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung-Chien Hsieh, Lise Bray, Marielle Oloudé, Cory Rosenfelt, Marie Pier Scott-Boyer, Victoria Most, Tianyun Wang, Jonas J. Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, Maja Studencka-Turski, Thomas Besnard, Anna M. Hajdukowicz, Franziska G. Thiel, Sophie Wolfgramm
and 129 other authors
Laëtitia Florenceau, Silvestre Cuinat, Sylvain Marsac, Yann Verrès, Audrey Dangoumau, Léa Poirier, Ingrid M. Wentzensen, Annabelle Tuttle, Cara Forster, Johanna Striesow, Richard Golnik, Damara Ortiz, Laura Jenkins, Jill A. Rosenfeld, Alban Ziegler, Clara Houdayer, Dominique Bonneau, Erin Torti, Amber Begtrup, Kristin G. Monaghan, Sureni V. Mullegama, Catharina M. L. Nienke Volker-Touw, Koen L. I. van Gassen, Renske Oegema, Mirjam S. de Pagter, Katharina Steindl, Anita Rauch, Ivan Ivanovski, Kimberly McDonald, Emily Boothe, Andrew Dauber, Janice Baker, Noelle Andrea V. Fabie, Raphael A. Bernier, Tychele N. Turner, Siddharth Srivastava, Kira A. Dies, Lindsay C. Swanson, Carrie Costin, Alali Abdulrazak, Rebekah K. Jobling, John Pappas, Rachel Rabin, Dmitriy Niyazov, Anne Chun-Hui Tsai, Karen Kovak, David B. Beck, May Christine V. Malicdan, David R. Adams, Lynne Wolfe, Rebecca D. Ganetzky, Colleen C. Muraresku, Davit Babikyan, Zdeněk Sedláček, Miroslava Hančárová, Andrew T. Timberlake, Hind Al Saif, Berkley Nestler, Kayla King, MJ Hajianpour, Gregory Costain, D’Arcy Prendergast, Chumei Li, David Geneviève, Antonio Vitobello, Arthur Sorlin, Christophe Philippe, Tamar Harel, Ori Toker, Ataf Sabir, Derek Lim, Mark J. Hamilton, Lisa J. Bryson, Elaine Cleary, Sacha Weber, Trevor L. Hoffman, Anna M. Cueto-González, Eduardo F. Tizzano, David Gómez-Andrés, Marta Codina-Solà, Athina Ververi, Efterpi Pavlidou, Alexandros Lambropoulos, Kyriakos Garganis, Marlène Rio, Jonathan Levy, Sarah J. Langas, Anne M. McRae, Mathieu K. Lessard, Maria Daniela D’Agostino, Isabelle De Bie, Meret Wegler, Rami Abou Jamra, Susanne B. Kamphausen, Viktoria Bothe, Lorraine Potocki, Eric Olinger, Yves Sznajer, Elsa Wiame, Michelle L. Thompson, Molly C. Schroeder, Catherine Gooch, Raphael A. Smith, Arti Pandya, Larissa M. Busch, Uwe Völker, Elke Hammer, Kristian Wende, Benjamin Cogné, Bertrand Isidor, Jens Meiler, Clémentine Ripoll, Stéphanie Bigou, Frédéric Laumonnier, Peter W. Hildebrand, Evan E. Eichler, Kirsty McWalter, Peter M. Krawitz, Florence Roux-Dalvai, Ype Elgersma, Julien Marcoux, Marie-Pierre Bousquet, Arnaud Droit, Jeremie Poschmann, Andreas M. Grabrucker, Francois V. Bolduc, Stéphane Bézieau, Frédéric Ebstein, Elke KrügerJournal: Nature communications
Published: 26 November 2025
Type: Research article
Status: data only (how the code is found and verified)
License: CC BY
Institutions: Nantes Université (France), Centre Hospitalier Universitaire de Nantes (France), University of Limerick (Ireland), Erasmus MC (Netherlands), Université Fédérale de Toulouse Midi-Pyrénées (France), University of Bonn (Germany), Inserm (France), Center for Research in Transplantation and Translational Immunology (France), University of Alberta (Canada), Centre de recherche du CHU de Québec-Université Laval (Canada), Leipzig University (Germany), Peking University (China), Universitätsmedizin Greifswald (Germany), Université de Tours (France), Imaging, Brain, and Neuropsychiatry (France), GeneDx, LLC,Gaithersburg, MD USA, Loyola University Chicago (United States), Leibniz Institute for Plasma Science and Technology (Germany), Children's Hospital of Pittsburgh (United States), Baylor College of Medicine (United States), Baylor Genetics (United States), Centre Hospitalier Universitaire de Toulouse (France), Centre Hospitalier Universitaire d'Angers (France), Université d'Angers (France), Utrecht University (Netherlands), University of Zurich (Switzerland), University Children's Hospital Zurich (Switzerland), University of Louisville (United States), University of Mississippi Medical Center (United States), George Washington University (United States), Children's Minnesota (United States), University of Washington (United States), Washington University in St. Louis (United States), Boston Children's Hospital (United States), Akron Children's Hospital (United States), West Virginia University (United States), Hospital for Sick Children (Canada), New York University (United States), Clinical Genetics, NYU Orthopedic Hospital,New York, NY USA, Duke University (United States), University of Illinois Chicago (United States), Oregon Health & Science University (United States), National Human Genome Research Institute (United States), Children's Hospital of Philadelphia (United States), University of Pennsylvania (United States), Yerevan State Medical University (Armenia), Center of Medical Genetics and Primary Health Care (Armenia), Charles University (Czechia), NYU Langone Health (United States), Virginia Commonwealth University (United States), Albany Medical College (United States), University of Toronto (Canada), Sickkids Research Institute (Canada), McMaster University (Canada), Hôpital Arnaud de Villeneuve (France), Université Bourgogne Franche-Comté (France), CHU Dijon Bourgogne (France), Hadassah Medical Center (Israel), Hebrew University of Jerusalem (Israel), Birmingham Women’s and Children’s NHS Foundation Trust (United Kingdom), University of Birmingham (United Kingdom), Queen Elizabeth University Hospital (United Kingdom), Western General Hospital (United Kingdom), University of Edinburgh (United Kingdom), Sorbonne Université (France), Kaiser Permanente (United States), Vall d'Hebron Hospital Universitari (Spain), Papageorgiou General Hospital (Greece), University Hospital of Ioannina (Greece), Aristotle University of Thessaloniki (Greece), St. Luke's Hospital (Greece), Hôpital Necker-Enfants Malades (France), Hôpital Robert-Debré (France), Lurie Children's Hospital (United States), Northwestern University (United States), McGill University (Canada), University Hospital Magdeburg (Germany), Texas Children's Hospital (United States), Cliniques Universitaires Saint-Luc (Belgium), University of North Carolina Health Care (United States), Vanderbilt University (United States), Pitié-Salpêtrière Hospital (France), Centre Hospitalier Régional Universitaire de Brest (France), Charité – Universitätsmedizin Berlin (Germany), Berlin Institute of Health at Charité - Universitätsmedizin Berlin (Germany), Université Laval (Canada)
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