Article
Therapeutic p63 isoform switching rescues epidermal defects in AEC syndrome.
Molecular therapy : the journal of the American Society of Gene Therapy - 1 Apr 2026
Di Girolamo Daniela, Urciuoli Gloria, Sol Stefano, Ferniani Marco, Antonini Dario, Marchese Emanuela, Palumbo Sara, De Stefano Maria Angela, Baltissen Marijke P A, Ros Marian A, Dixon Jill, Hadj-Rabia Smail, Missero Caterina
Abstract excerpt
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a debilitating genodermatosis marked by skin erosions and caused by dominant mutations in TP63, a crucial transcriptional regulator of epidermal gene expression. These mutations localize to a carboxy-terminal domain unique to p63α, where they disrupt folding, promote aggregation, and impair transcriptional activity. Here, we uncover an...
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