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

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 ha...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Sci Rep
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group UK 2017
Aiheet:
Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5678168/
https://ncbi.nlm.nih.gov/pubmed/29118367
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-15380-y
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