Article
Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 30 Jan 2018
Russo Claudia, Osterburg Christian, Sirico Anna, Antonini Dario, Ambrosio Raffaele, Würz Julia Maren, Rinnenthal Jörg, Ferniani Marco, Kehrloesser Sebastian, Schäfer Birgit, Güntert Peter, Sinha Satrajit, Dötsch Volker, Missero Caterina
Abstract excerpt
The p63 gene encodes a master regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the C-terminal domain of the p63 gene can cause ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, a life-threatening disorder characterized by skin fragility and severe, long-lasting skin erosions. Despite deep knowledge of p63 functions, little is known about mechanisms...
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