Browsing Institutt for biovitenskap by Author "Palibrk, Vuk"

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  • 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 / Tidsskriftartikkel / PublishedVersion; 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 ...