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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Plakophilin 1: an important stabilizer of desmosomes.

Desmosomes are cell-cell junctions found primarily in epithelial tissues and particularly in those that frequently undergo mechanical stress. Desmosomal cadherins provide the adhesion for opposing cell membranes and desmosomal plaque proteins link cytoskeletal intermediate filaments to these cadherins. Plakophilin 1 is a desmosomal plaque protein and a member of the armadillo family of structural and signalling proteins. Expressed primarily in the suprabasal layers of stratifying epithelia, plakophilin 1 is absent in patients with the rare autosomal recessive disorder, ectodermal-dysplasia skin-fragility syndrome (OMIM 604536). These patients exhibit skin fragility with trauma induced blistering, especially on the weight-bearing parts of the soles, and thus provide a vivid illustration of the clinical importance of PKP1 in skin physiology. Recent in vitro data also implicate plakophilin 1 in regulating desmosome integrity in response to low calcium concentrations and in altering the migratory properties of wounded keratinocyte sheets in culture. These findings further underscore the significant role of PKP1 in keratinocyte cell biology.[1]


  1. Plakophilin 1: an important stabilizer of desmosomes. South, A.P. Clin. Exp. Dermatol. (2004) [Pubmed]
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