Article
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
American journal of human genetics - 2 Feb 2017
Küry Sébastien, Besnard Thomas, Ebstein Frédéric, Khan Tahir N, Gambin Tomasz, Douglas Jessica, Bacino Carlos A, Craigen William J, Sanders Stephan J, Lehmann Andrea, Latypova Xénia, Khan Kamal, Pacault Mathilde, Sacharow Stephanie, Glaser Kimberly, Bieth Eric, Perrin-Sabourin Laurence, Jacquemont Marie-Line, Cho Megan T, Roeder Elizabeth, Denommé-Pichon Anne-Sophie, Monaghan Kristin G, Yuan Bo, Xia Fan, Simon Sylvain, Bonneau Dominique, Parent Philippe, Gilbert-Dussardier Brigitte, Odent Sylvie, Toutain Annick, Pasquier Laurent, Barbouth Deborah, Shaw Chad A, Patel Ankita, Smith Janice L, Bi Weimin, Schmitt Sébastien, Deb Wallid, Nizon Mathilde, Mercier Sandra, Vincent Marie, Rooryck Caroline, Malan Valérie, Briceño Ignacio, Gómez Alberto, Nugent Kimberly M, Gibson James B, Cogné Benjamin, Lupski James R, Stessman Holly A F, Eichler Evan E, Retterer Kyle, Yang Yaping, Redon Richard, Katsanis Nicholas, Rosenfeld Jill A, Kloetzel Peter-Michael, Golzio Christelle, Bézieau Stéphane, Stankiewicz Paweł, Isidor Bertrand
Abstract excerpt
Degradation of proteins by the ubiquitin-proteasome system (UPS) is an essential biological process in the development of eukaryotic organisms. Dysregulation of this mechanism leads to numerous human neurodegenerative or neurodevelopmental disorders. Through a multi-center collaboration, we identified six de novo genomic deletions and four de novo point mutations involving PSMD12, encoding the non-ATPase subunit...
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