Keratins and skin disease

Maria Knöbel, Edel A. O’Toole, Frances J. D. Smith (Lead / Corresponding author)

    Research output: Contribution to journalArticlepeer-review

    46 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)583-589
    Number of pages7
    JournalCell and Tissue Research
    Volume360
    Issue number3
    Early online date27 Jan 2015
    DOIs
    Publication statusPublished - Jun 2015

    Keywords

    • Epidermolysis bullosa simplex
    • Genetics
    • Ichthyosis
    • Keratin
    • Pachyonychia
    • siRNA

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