Ciliopathies

20111,344 citationsReviewgreen Open Access

Authors

Friedhelm Hildebrandt · Howard Hughes Medical Institute

Thomas Benzing · Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases

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.

Topics & Keywords

Genetic and Kidney Cyst Diseases Hedgehog Signaling Pathway Studies Genetic Syndromes and Imprinting

Publication Details

Published in: New England Journal of Medicine

Volume 364, Issue 16, pp. 1533-1543

DOI: 10.1056/nejmra1010172

Field-Weighted Citation Impact: 60.80

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Ciliopathies

Authors

Abstract

Topics & Keywords

Publication Details