Intermediate filament proteins and their associated diseases.

Intermediate filaments provide scaffolding for the cell and protect it against stress. This comprehensive review points out that there are more than 100 intermediate filament genes and that mutant intermediate filament proteins cause more than 30 diseases. Selective expression of these genes in particular tissues accounts for tissue-specific diseases caused by mutant intermediate filament genes, such as epidermolysis bullosa simplex and certain types of cardiomyopathy.

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