Ciliopathies
Friedhelm Hildebrandt(Howard Hughes Medical Institute), Thomas Benzing(Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases), Nicholas Katsanis(Duke Medical Center)
Cited by 1,354Open Access
Abstract
A ciliopathy is a disease in which a hairlike cellular organelle called the cilium is dysfunctional. Most proteins altered in these single-gene disorders function at the level of the cilium–centrosome complex. This review considers the role of the cilium in disease.
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