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 language | English |
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Pages (from-to) | 583-589 |
Number of pages | 7 |
Journal | Cell and Tissue Research |
Volume | 360 |
Issue number | 3 |
Early online date | 27 Jan 2015 |
DOIs | |
Publication status | Published - Jun 2015 |
Keywords
- Epidermolysis bullosa simplex
- Genetics
- Ichthyosis
- Keratin
- Pachyonychia
- siRNA
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Cell Biology
- Histology