The yin and the yang of keratin amino acid substitutions and epidermolysis bullosa simplex

Authors

Dedee F. Murrell, University of New South Wales
Niken Trisnowati, University of New South Wales
Spiros Miyakis, University of New South WalesFollow
Amy S. Paller, Northwestern University, Chicago

RIS ID

71810

Publication Details

Murrell, D. F., Trisnowati, N., Miyakis, S. & Paller, A. S. (2011). The yin and the yang of keratin amino acid substitutions and epidermolysis bullosa simplex. Journal of Investigative Dermatology, 131 (9), 1787-1790.

Abstract

Mutations that change the same amino acid can result in different clinical phenotypes. Through in silico modeling and keratin filament assessment of genetically engineered HaCaT cells, Natsuga et al., as reported in this issue, have demonstrated how changes in charge and structure of a replacement amino acid in keratin 14 can cause disease (KRT14pA413P, EB simplex) or no clinical effect (KRT14pA413T, polymorphism).