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 in | Dermatology Research and Practice Vol. 2010; no. 1; pp. 7 - 17 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
Egypt
Hindawi Limiteds
01.01.2010
Hindawi Publishing Corporation John Wiley & Sons, Inc Hindawi Limited Wiley |
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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. |
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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 – name: 1 Institute of Pathology, Philipps University of Marburg, Baldingerstraße, 35033 Marburg, Germany |
Author_xml | – sequence: 1 givenname: Steffen surname: Neuber fullname: Neuber, Steffen organization: Institute of PathologyPhilipps University of MarburgBaldingerstraße35033 MarburgGermanyuni-marburg.de – sequence: 2 givenname: Mario surname: Mühmer fullname: Mühmer, Mario organization: Institute of PathologyPhilipps University of MarburgBaldingerstraße35033 MarburgGermanyuni-marburg.de – sequence: 3 givenname: Denise surname: Wratten fullname: Wratten, Denise organization: Institute of PathologyPhilipps University of MarburgBaldingerstraße35033 MarburgGermanyuni-marburg.de – sequence: 4 givenname: Peter J. surname: Koch fullname: Koch, Peter J. organization: Departments of Dermatology, Cell & Developmental BiologyUniversity of Colorado Medical SchoolAurora, CO 80045USAucdenver.edu – sequence: 5 givenname: Roland surname: Moll fullname: Moll, Roland organization: Institute of PathologyPhilipps University of MarburgBaldingerstraße35033 MarburgGermanyuni-marburg.de – sequence: 6 givenname: Ansgar surname: Schmidt fullname: Schmidt, Ansgar organization: Institute of PathologyPhilipps University of MarburgBaldingerstraße35033 MarburgGermanyuni-marburg.de |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/20585595$$D View this record in MEDLINE/PubMed |
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ContentType | Journal Article |
Copyright | Copyright © 2010 COPYRIGHT 2010 John Wiley & Sons, Inc. 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 |
URI | https://www.airitilibrary.com/Article/Detail/P20151208002-201012-201707110021-201707110021-7-17 https://dx.doi.org/10.1155/2010/101452 https://www.ncbi.nlm.nih.gov/pubmed/20585595 https://www.proquest.com/docview/1710711596 https://search.proquest.com/docview/733475498 https://pubmed.ncbi.nlm.nih.gov/PMC2879962 https://doaj.org/article/2077f4edca84465094c39a561f7cc28d |
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