The desmosome: Cell science lessons from human diseases

Margareth D. Kottke, Emmanuella Delva, Andrew P. Kowalczyk

Research output: Contribution to journalArticlepeer-review

153 Scopus citations


Human skin diseases have revealed fundamental mechanisms by which cytoskeletal proteins contribute to tissue architecture and function. In particular, the analysis of epidermal blistering disorders and the role of keratin gene mutations in these diseases has led to significant increases in our understanding of intermediate filament biology. The major cell-surface attachment site for intermediate filament networks is the desmosome, an adhesive intercellular junction prominent in the epidermis and the heart. During the past decade, substantial progress has been made in understanding the molecular basis of a variety of epidermal autoimmune diseases, skin fragility syndromes, and disorders that involve a combination of heart and skin defects caused by perturbations in desmosome structure and function. These human diseases reveal key roles for desmosomes in maintaining tissue integrity, but also suggest functions for desmosomal components in signal transduction pathways and epidermal organization.

Original languageEnglish (US)
Pages (from-to)797-806
Number of pages10
JournalJournal of Cell Science
Issue number5
StatePublished - Mar 1 2006

All Science Journal Classification (ASJC) codes

  • Cell Biology


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