Article
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities.
Cell reports. Medicine - 20 Apr 2021
Aprigliano Rossana, Aksu Merdane Ezgi, Bradamante Stefano, Mihaljevic Boris, Wang Wei, Rian Kristin, Montaldo Nicola P, Grooms Kayla Mae, Fordyce Martin Sarah L, Bordin Diana L, Bosshard Matthias, Peng Yunhui, Alexov Emil, Skinner Cindy, Liabakk Nina-Beate, Sullivan Gareth J, Bjørås Magnar, Schwartz Charles E, van Loon Barbara
Abstract excerpt
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), the disease mechanisms common to these syndromes remain unknown. In this work, we identify p53 signaling as the central process altered in HUWE1-promoted XLID syndromes. By focusing on...
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