Cracks in the foundation: keratin filaments and genetic disease

Elaine Fuchs*, Yiu mo Chan, Amy S. Paller, Qian Chu Yu

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


In the past three years, defects in the genes that encode intermediate filament (IF) proteins have been found to be responsible for some inherited skin diseases, and others have been implicated in certain motor neuron diseases and cardiomyopathies. This article reviews how knowledge of IF structure led to the discovery of genetic disorders of IFs, and how the clinical manifestations of these diseases have confirmed the notion that IFs provide the mechanical strength of cells.

Original languageEnglish (US)
Pages (from-to)321-326
Number of pages6
JournalTrends in Cell Biology
Issue number9
StatePublished - Sep 1994

ASJC Scopus subject areas

  • Cell Biology


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