Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung‐Chien Hsieh, Lise Bray, Marielle Oloudé, Cory Scott Rosenfelt, Marie‐Pier Scott‐Boyer, Victoria Most, Tianyun Wang, Jonas Johannes Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, , Marta Codina‐Solà
The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.
Nature Communications · Nov 26, 2025Peer-reviewedGenetic & Genomic Medicine