Aprigliano, Rossana; Aksu, Merdane Ezgi; Bradamante, Stefano; Mihaljevic, Boris; Wang, Wei; Rian, Kristin; Montaldo, Nicola Pietro; Grooms, Kayla; Martin, Sarah; Bordin, Diana Lilian; Bosshard, Matthias; Peng, Yunhui; Alexov, Emil; Skinner, Cindy; Liabakk, Nina-Beate; Sullivan, Gareth; Bjørås, Magnar; Schwartz, Charles; van Loon, Barbara (Peer reviewed; Journal article, 2021)
Essential E3 ubiquitin ligase HUWE1 (HECT, UBA, and WWE domain containing 1) regulates key factors, such as p53. Although mutations in HUWE1 cause heterogenous neurodevelopmental X-linked intellectual disabilities (XLIDs), ...