• Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability 

      Bosshard, Matthias; Aprigliano, Rossana; Gattiker, Cristina; Palibrk, Vuk; Markkanen, Enni; Backe, Paul Hoff; Pellegrino, Stefania; Raymond, F. Lucy; Froyen, Guy; Altmeyer, Matthias; Bjørås, Magnar; Dianov, Grigory L.; van Loon, Barbara (Journal article; Peer reviewed, 2017)
      Mutations in the HECT, UBA and WWE domain-containing 1 (HUWE1) E3 ubiquitin ligase cause neurodevelopmental disorder X-linked intellectual disability (XLID). HUWE1 regulates essential processes such as genome integrity ...