Anthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome

Abstract Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic disorder caused by mutations in the TP63 gene, which encodes a transcription factor essential for epidermal gene expression. A key feature of AEC syndrome is chronic skin erosion, for which no effective tre...

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Bibliographic Details
Main Authors: Fabiana Boncimino, Ludovica D’Auria, Kristina Todorova, Sabina Y. van der Zanden, Jacques Neefjes, Anna Mandinova, Caterina Missero, Stefano Sol
Format: Article
Language:English
Published: Nature Publishing Group 2025-01-01
Series:Cell Death Discovery
Online Access:https://doi.org/10.1038/s41420-025-02307-0
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