Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2081717 | Drug Discovery Today: Disease Mechanisms | 2013 | 9 Pages |
Abstract
Nephronophthisis is a recessive cystic kidney disorder that belongs to the group of ciliopathies. Most of the causal gene products localize at the primary cilium, as components of either the transition zone or the retrograde intraflagellar transport IFT-A complex, where they control ciliary protein trafficking and modulate responses to various signaling pathways. In this review, we summarize the current literature on nephronophthisis-related disease genetics and outline the essential pathophysiological mechanisms underlying these disorders.
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Authors
Marion Delous, Helori M. Gaudé, Sophie Saunier,