Article
Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability.
Scientific reports - 8 Nov 2017
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
Abstract excerpt
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 maintenance. Alterations in the genome integrity and accumulation of mutations have been tightly associated with the onset of neurodevelopmental disorders. Though HUWE1 mutations are clearly...
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