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

Dedee F. Murrell*, Niken Trisnowati, Spiros Miyakis, Amy S. Paller

*Corresponding author for this work

Research output: Contribution to journalComment/debatepeer-review

14 Scopus citations

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).

Original languageEnglish (US)
Pages (from-to)1787-1790
Number of pages4
JournalJournal of Investigative Dermatology
Volume131
Issue number9
DOIs
StatePublished - Sep 2011

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Dermatology
  • Cell Biology

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