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Pediatric Nephrology
Published in: Pediatric Nephrology 4/2014

01-04-2014 | Review

Polycystin-1 cleavage and the regulation of transcriptional pathways

Authors: David Merrick, Claudia A. Bertuccio, Hannah C. Chapin, Mark Lal, Veronique Chauvet, Michael J. Caplan

Published in: Pediatric Nephrology | Issue 4/2014

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Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of end-stage renal disease, affecting approximately 1 in 1,000 people. The disease is characterized by the development of numerous large fluid-filled renal cysts over the course of decades. These cysts compress the surrounding renal parenchyma and impair its function. Mutations in two genes are responsible for ADPKD. The protein products of both of these genes, polycystin-1 and polycystin-2, localize to the primary cilium and participate in a wide variety of signaling pathways. Polycystin-1 undergoes several proteolytic cleavages that produce fragments which manifest biological activities. Recent results suggest that the production of polycystin-1 cleavage fragments is necessary and sufficient to account for at least some, although certainly not all, of the physiological functions of the parent protein.
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Metadata
Title
Polycystin-1 cleavage and the regulation of transcriptional pathways
Authors
David Merrick
Claudia A. Bertuccio
Hannah C. Chapin
Mark Lal
Veronique Chauvet
Michael J. Caplan
Publication date
01-04-2014
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 4/2014
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-013-2548-y

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