Article
AEC-associated p63 mutations lead to alternative splicing/protein stabilization of p63 and modulation of Notch signaling.
Cell cycle (Georgetown, Tex.) - 1 Oct 2005
Huang Yi-Ping, Kim Yuriy, Li Zhaobo, Fomenkov Tanya, Fomenkov Alexey, Ratovitski Edward A
Abstract excerpt
p63, the major regulator of epithelial development/differentiation, is mutated in human ectodermal dysplasias, such as ankyloblepharon, ectodermal dysplasia and clefting (AEC). We recently identified that p63alpha physically associated with mRNA processing/splicing proteins. We previously showed that p63 mutations mapped to the sterile alpha-motif led to disruption of these interactions and modulated an aberrant...
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