TY - JOUR
T1 - Ciliopathies
AU - Hildebrandt, Friedhelm
AU - Benzing, Thomas
AU - Katsanis, Elias Nicholas
PY - 2011/4/21
Y1 - 2011/4/21
N2 - Ciliopathies may be framed as a genetically heterogeneous group of disorders that are caused by mutations in genes with products that localize to the cilium-centrosome complex. The phenotypes due to the altered proteins vary from cystic kidney disease and blindness to neurologic phenotypes, obesity, and diabetes. A common feature of monogenic ciliopathies such as polycystic kidney disease, nephronophthisis, Joubert's syndrome, Meckel's syndrome, and the Bardet-Biedl syndrome is that the disease-relevant gene products are expressed at primary cilia or centrosomes. Cilia are complex sensory organelles involved in the control of a variety of cellular signaling pathways, and although the complexity of these signaling pathways has been in part delineated, many essential questions remain.
AB - Ciliopathies may be framed as a genetically heterogeneous group of disorders that are caused by mutations in genes with products that localize to the cilium-centrosome complex. The phenotypes due to the altered proteins vary from cystic kidney disease and blindness to neurologic phenotypes, obesity, and diabetes. A common feature of monogenic ciliopathies such as polycystic kidney disease, nephronophthisis, Joubert's syndrome, Meckel's syndrome, and the Bardet-Biedl syndrome is that the disease-relevant gene products are expressed at primary cilia or centrosomes. Cilia are complex sensory organelles involved in the control of a variety of cellular signaling pathways, and although the complexity of these signaling pathways has been in part delineated, many essential questions remain.
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U2 - 10.1056/NEJMra1010172
DO - 10.1056/NEJMra1010172
M3 - Review article
C2 - 21506742
AN - SCOPUS:79955138852
VL - 364
SP - 1533
EP - 1543
JO - New England Journal of Medicine
JF - New England Journal of Medicine
SN - 0028-4793
IS - 16
ER -