Keratins and Skin Disease: Genetic and Molecular Roles

    January 2015 in “ Cell & tissue research/Cell and tissue research ”
    Maria Knöbel, Edel A. O’Toole, Frances J.D. Smith
    TLDR Keratin mutations cause skin diseases and could lead to new treatments.
    The document "Keratins and skin disease" reviewed studies on the genetic and molecular roles of keratins in skin disorders, highlighting how keratin mutations affect conditions like epidermolysis bullosa simplex and pachyonychia congenita. It discussed keratin 8 phosphorylation's role in tumor progression and the potential of RNAi-based therapies for keratin disorders. The studies emphasized the importance of keratin intermediate filaments in skin integrity and disease mechanisms, suggesting new therapeutic targets and interventions for keratin-related skin diseases.
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