The Desmosomal Plaque Proteins of the Plakophilin Family

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 deve...

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Published inDermatology Research and Practice Vol. 2010; no. 1; pp. 7 - 17
Main Authors Neuber, Steffen, Mühmer, Mario, Wratten, Denise, Koch, Peter J., Moll, Roland, Schmidt, Ansgar
Format Journal Article
LanguageEnglish
Published Egypt Hindawi Limiteds 01.01.2010
Hindawi Publishing Corporation
John Wiley & Sons, Inc
Hindawi Limited
Wiley
Subjects
Cancer
Cellular proteins
Colleges & universities
Desmosomes
Gene expression
Grants
Immunoglobulins
Molecular weight
Mutation
Physiological aspects
Properties
Proteins
Review
Tumors
Germany
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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.
AbstractList 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.
Three related proteins of the plakophilin family (PKP13) 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.
Audience Academic
Author Denise Wratten
Roland Moll
Ansgar Schmidt
Steffen Neuber
Peter J. Koch
Mario Mühmer
AuthorAffiliation 1 Institute of Pathology, Philipps University of Marburg, Baldingerstraße, 35033 Marburg, Germany
2 Departments of Dermatology, Cell & Developmental Biology, University of Colorado Medical School, Aurora, CO 80045, USA
AuthorAffiliation_xml – name: 2 Departments of Dermatology, Cell & Developmental Biology, University of Colorado Medical School, Aurora, CO 80045, USA
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Copyright © 2010 This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Copyright © 2010 Steffen Neuber et al. 2010
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Snippet Three related proteins of the plakophilin family (PKP1_3) have been identified as junctional proteins that are essential for the formation and stabilization of...
Three related proteins of the plakophilin family (PKP13) have been identified as junctional proteins that are essential for the formation and stabilization of...
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SubjectTerms Cancer
Cellular proteins
Colleges & universities
Desmosomes
Gene expression
Grants
Immunoglobulins
Molecular weight
Mutation
Physiological aspects
Properties
Proteins
Review
Tumors
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Title The Desmosomal Plaque Proteins of the Plakophilin Family
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Volume 2010
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