Abstract
Mutations in keratin genes cause a diverse spectrum of skin, hair and mucosal disorders. Cutaneous disorders include epidermolysis bullosa simplex, palmoplantar keratoderma, epidermolytic ichthyosis and pachyonychia congenita. Both clinical and laboratory observations confirm a major role for keratins in maintaining epidermal cell–cell adhesion. When normal tissue homeostasis is disturbed, for example, during wound healing and cancer, keratins play an important non-mechanical role. Post-translational modifications including glycosylation and phosphorylation of keratins play an important role in protection of epithelial cells from injury. Keratins also play a role in modulation of the immune response. A current focus in the area of keratins and disease is the development of new treatments including small inhibitory RNA (siRNA) to mutant keratins and small molecules to modulate keratin expression.
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We would like to acknowledge the support of the Pachyonychia Project.
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Knöbel, M., O’Toole, E.A. & Smith, F.J.D. Keratins and skin disease. Cell Tissue Res 360, 583–589 (2015). https://doi.org/10.1007/s00441-014-2105-4
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DOI: https://doi.org/10.1007/s00441-014-2105-4