Frédéric Ebstein, Xenia Latypova, Ka Ying Sharon Hung, Miguel A Prado, Byung-Hoon Lee, Sophie Möller, Martin Wendlandt, Barbara A Zieba, Laëtitia Florenceau, Virginie Vignard, Léa Poirier, Bérénice Toutain, Isabella Moroni, Charlotte Dubucs, Nicolas Chassaing, Judit Horvath, Holger Prokisch, Sébastien Küry, Stéphane Bézieau, Joao A Paulo, Daniel Finley, Elke Krüger, Daniele Ghezzi, Bertrand Isidor
PURPOSE: Imbalances in protein homeostasis affect human brain development, with the ubiquitin-proteasome system (UPS) and autophagy playing crucial roles in neurodevelopmental disorders (NDD). This study explores the impact of biallelic USP14 variants on neurodevelopment, focusing on its role as a key hub connecting UPS and autophagy. METHODS: Here, we identified biallelic USP14 variants in four individuals from three unrelated families: one fetus, a newborn with a syndromic NDD, and two siblings affected by a progressive neurological disease...
March 9, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics