p63 in corneal and epidermal differentiation.

Flavia Novelli, Carlo Ganini, Gerry Melino, Carlo Nucci, Yuyi Han, Yufang Shi, Ying Wang, Eleonora Candi

Journal: Biochemical and biophysical research communications 2022;610():15-22

PMID: 35430447

Abstract

The transcription factor p63, belonging to the p53 family, is considered the master regulator of epidermal differentiation, skin, and in general of the differentiation of ectodermal tissues. Mutations in TP63 gene cause several rare ectodermal dysplasia disorders that refers to epidermal structural abnormalities and ocular surface disease, such as Ectrodactyly Ectodermal Dysplasia Clefting (EEC) syndrome. In this review, we discuss the key roles of p63 in keratinocytes and corneal epithelial differentiation, highlighting the function of the ΔNp63α isoform in driving limbal stem cell and epithelial stem cells commitment. We have summarized the specific ocular phenotypes observed in the TP63-mutation derived EEC syndrome, discussing the current and novel therapeutic strategies for the management of the ocular manifestations in EEC syndrome.

Copyright © 2022 Elsevier Inc. All rights reserved.

Address: Department of Experimental Medicine, TOR, University of Rome Tor Vergata, 00133, Rome, Italy. Electronic address: [email protected].; Department of Experimental Medicine, TOR, University of Rome Tor Vergata, 00133, Rome, Italy; Biochemistry Laboratory, Istituto Dermopatico Immacolata (IDI-IRCCS), 00100, Rome, Italy. Electronic address: [email protected].; Department of Experimental Medicine, TOR, University of Rome Tor Vergata, 00133, Rome, Italy. Electronic address: [email protected].; Department of Experimental Medicine, TOR, University of Rome Tor Vergata, 00133, Rome, Italy. Electronic address: [email protected].; The First Affiliated Hospital of Soochow University and State Key Laboratory of Radiation, Medicine and Protection, Institutes for Translational Medicine, Soochow University, 199 Renai Road, Suzhou, Jiangsu, 215123, China. Electronic address: [email protected].; Department of Experimental Medicine, TOR, University of Rome Tor Vergata, 00133, Rome, Italy; CAS Key Laboratory of Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese, Academy of Sciences, Chinese Academy of Sciences, 320 Yueyang Road, Shanghai, 200031, China; The First Affiliated Hospital of Soochow University and State Key Laboratory of Radiation, Medicine and Protection, Institutes for Translational Medicine, Soochow University, 199 Renai Road, Suzhou, Jiangsu, 215123, China. Electronic address: [email protected].; CAS Key Laboratory of Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese, Academy of Sciences, Chinese Academy of Sciences, 320 Yueyang Road, Shanghai, 200031, China. Electronic address: [email protected].; Department of Experimental Medicine, TOR, University of Rome Tor Vergata, 00133, Rome, Italy; Biochemistry Laboratory, Istituto Dermopatico Immacolata (IDI-IRCCS), 00100, Rome, Italy. Electronic address: [email protected].
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