Article

Increased p53 signaling impairs neural differentiation causing HUWE1-promoted intellectual disabilities

2020-05-11

Abstract excerpt

<h4>SUMMARY</h4> Essential E3 ubiquitin ligase HUWE1 (HECT, UBA and WWE domain containing 1) regulates key factors, as p53. Mutations in HUWE1 have been associated with neurodevelopmental X-linked intellectual disabilities (XLIDs), however the pathomechanism at the onset of heterogenous XLIDs remains unknown. In this work, we identify p53 signaling as the process hyperactivated in lymphoblastoid cells from patie...

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Literature Corpus work: fa5c2b8a-74c8-53f4-82d5-1b8768600bb1
DOI: 10.1101/2020.05.10.087296

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