Article
Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes.
The Journal of clinical investigation - 1 Jun 2016
Kerns Michelle L, Hakim Jill M C, Lu Rosemary G, Guo Yajuan, Berroth Andreas, Kaspar Roger L, Coulombe Pierre A
Abstract excerpt
Palmoplantar keratoderma (PPK) are debilitating lesions that arise in individuals with pachyonychia congenita (PC) and feature upregulation of danger-associated molecular patterns and skin barrier regulators. The defining features of PC-associated PPK are reproduced in mice null for keratin 16 (Krt16), which is commonly mutated in PC patients. Here, we have shown that PPK onset is preceded by oxidative stress in...
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