Plectin gene defects lead to various forms of epidermolysis bullosa simplex

Günther A Rezniczek, Gernot Walko, Gerhard Wiche

Research output: Contribution to journalReview article

35 Citations (Scopus)

Abstract

Plectin is an important organizer of the keratin filament cytoskeleton in basal keratinocytes. It is essential for anchoring these filaments to the extracellular matrix via hemidesmosomal integrins. Loss of plectin or incorrect function of the protein due to mutations in its gene can lead to various forms of the skin blistering disease, epidermolysis bullosa simplex. Severity and subtype of the disease is dependent on the specific mutation and can be associated with (late-onset) muscular dystrophy or pyloric atresia. Mouse models mimicking the human phenotypes allow detailed study of plectin function.

Original languageEnglish
Pages (from-to)33-41
Number of pages9
JournalDermatologic Clinics
Volume28
Issue number1
DOIs
Publication statusPublished - Jan 2010

Keywords

  • Animals
  • Epidermolysis Bullosa Simplex/genetics
  • Humans
  • Mice
  • Phenotype
  • Plectin/genetics

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