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Trends Mol Med. 2011 Nov;17(11):625-33. doi: 10.1016/j.molmed.2011.06.003. Epub 2011 Jul 19.

mTOR signaling in polycystic kidney disease.

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  • 1Cell Biology, Genzyme Corporation, 49 New York Avenue, Framingham, MA, USA.


Polycystic kidney diseases (PKDs) comprise a large group of genetic disorders characterized by formation of cysts in the kidneys and other organs, ultimately leading to end-stage renal disease. Although PKDs can be caused by mutations in different genes, they converge on a set of common molecular mechanisms involved in cystogenesis and ciliary dysfunction, and can be qualified as ciliopathies. Recent advances in understanding the mechanisms regulating disease progression have led to the development of new therapies that are being tested in both preclinical and clinical trials. In this article, we briefly review a network of molecular pathways of cystogenesis that are regulated by ciliary functions. We discuss the mTOR pathway in depth, highlighting recent progress in understanding its role in PKD and the current results of clinical trials.

Copyright © 2011 Elsevier Ltd. All rights reserved.

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