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Institute of Medical Genetics News, Events & Publications

Publication (16 January 2024)

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Kury, Sebastien; Stanton, Janelle E; van Woerden, Geeske M; Hsieh, Tzung-Chien; Rosenfelt, Cory; Pier Scott-Boyer, Marie; Most, Victoria; Wang, Tianyun; Papendorf, Jonas Johannes; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna Marta; Thiel, Franziska; Moller, Sophie; Florenceau, Laetitia; Cuinat, Silvestre; Marsac, Sylvain; Wentzensen, Ingrid; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A; Ziegler, Alban; Houdayer, Clara; Bonneau,Dominique;  Begtrup, Amber ; Monaghan, Kristin G. ; Mullegama, Sureni V.;  Volker-Touw, C.M.L. (Nienke);  van Gassen, Koen L.I.;  Oegema, Renske; de Pagter, Mirjam; Steindl, Katharina; Ivanovski, Ivan; Rauch, Anita, McDonald, Kimberly; et al  (2024).
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. 
PMID: 38293138 DOI: 10.1101/2024.01.13.24301174 medRxiv 24301174, University of Zurich. 2024 Jan 16. Preprint.