Inherited desmosomal disorders

Liat Samuelov, Eli Sprecher

Research output: Contribution to journalReview articlepeer-review

Abstract

Desmosomes serve as intercellular junctions in various tissues including the skin and the heart where they play a crucial role in cell-cell adhesion, signalling and differentiation. The desmosomes connect the cell surface to the keratin cytoskeleton and are composed of a transmembranal part consisting mainly of desmosomal cadherins, armadillo proteins and desmoplakin, which form the intracytoplasmic desmosomal plaque. Desmosomal genodermatoses are caused by mutations in genes encoding the various desmosomal components. They are characterized by skin, hair and cardiac manifestations occurring in diverse combinations. Their classification into a separate and distinct clinical group not only recognizes their common pathogenesis and facilitates their diagnosis but might also in the future form the basis for the design of novel and targeted therapies for these occasionally life-threatening diseases.

Original languageEnglish
Pages (from-to)457-475
Number of pages19
JournalCell and Tissue Research
Volume360
Issue number3
DOIs
StatePublished - 4 Jun 2015

Keywords

  • Desmoplakin
  • Desmosomal cadherins
  • Desmosome
  • Plakoglobin
  • Plakophilin

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