Cracks in the foundation: keratin filaments and genetic disease.
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.
Fuchs
E
E
Howard Hughes Medical Institute and Department of Molecular Genetics and Cell Biology, The University of Chicago, 5841 S. Maryland Ave, Chicago, IL 60637, USA.
Chan
Y M
YM
Paller
A S
AS
Yu
Q C
QC