title: The desmosomal plaque proteins of the plakophilin family.
abstract: Three related proteins of the plakophilin family (PKP1_3) have been identified as junctional proteins that are essential for the formation and stabilization of desmosomal cell contacts. Failure of PKP expression can have fatal effects on desmosomal adhesion, leading to abnormal tissue and organ development. Thus, loss of functional PKP 1 in humans leads to ectodermal dysplasia/skin fragility (EDSF) syndrome, a genodermatosis with severe blistering of the epidermis as well as abnormal keratinocytes differentiation. Mutations in the human PKP 2 gene have been linked to severe heart abnormalities that lead to arrhythmogenic right ventricular cardiomyopathy (ARVC). In the past few years it has been shown that junctional adhesion is not the only function of PKPs. These proteins have been implicated in cell signaling, organization of the cytoskeleton, and control of protein biosynthesis under specific cellular circumstances. Clearly, PKPs are more than just cell adhesion proteins. In this paper we will give an overview of our current knowledge on the very distinct roles of plakophilins in the cell.
authors.affiliation: Institute of Pathology, Philipps University of Marburg, Baldingerstrasse, 35033 Marburg, Germany.
authors.forename: Steffen
authors.initials: S
authors.lastname: Neuber
authors.forename: Mario
authors.initials: M
authors.lastname: Mühmer
authors.forename: Denise
authors.initials: D
authors.lastname: Wratten
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Koch
authors.forename: Roland
authors.initials: R
authors.lastname: Moll
authors.forename: Ansgar
authors.initials: A
authors.lastname: Schmidt