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intermediate filaments-desmosomes interactions

Saturday 23 April 2005

Pathology

Proteins that interact with intermediate filaments in desmosome and hemidesmosome cell-junction complexes are associated with several diseases.

- The loss of plectin, a cytoskeletal linker protein with critical functions in keratin organization in skin and desmin organization in muscle sarcomeres, causes the recessive disorder epidermolysis bullosa simplex with muscular dystrophy.

- Disturbances of other desmosomal proteins have been linked to ectodermal dysplasia, hair abnormalities, and cardiomyopathy:

  • plakophilin
  • plakoglobin
  • desmoplakin
  • desmogleins
  • corneodesmosin