Keratins and Their Role in EB Simplex

Mor Miodovnik, Eli Sprecher*

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


Keratins are a major constituent of the epidermal cell cytoskeleton. Apart from their contribution to cell ability to resist mechanical stress, they have been shown to regulate additional biological processes of importance such as protein synthesis, cell migration, and apoptosis. Much of this knowledge has been gained through the study of rare disorders, known as keratinopathies, which are caused by mutations in genes encoding the various epidermal keratins. Epidermolysis bullosa simplex (EBS) is a congenital blistering disease resulting from defects in K5-14 filament network architecture, which render keratinocytes susceptible to mechanical trauma. Nonstructural functions of basal keratins do also significantly contribute to the pathogenesis of EBS. Advances in our understanding of the molecular basis of keratin disorders have in turn recently led to the development of novel therapeutic approaches, raising new hopes for the treatment of this group of inherited skin diseases.

Original languageEnglish
Title of host publicationBlistering Diseases
Subtitle of host publicationClinical Features, Pathogenesis, Treatment
PublisherSpringer Berlin Heidelberg
Number of pages13
ISBN (Electronic)9783662456989
ISBN (Print)9783662456972
StatePublished - 1 Jan 2015
Externally publishedYes


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