Article
Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin.
Pflugers Archiv : European journal of physiology - 1 Aug 2014
Mekahli Djalila, Decuypere Jean-Paul, Sammels Eva, Welkenhuyzen Kirsten, Schoeber Joost, Audrezet Marie-Pierre, Corvelyn Anniek, Dechênes Georges, Ong Albert C M, Wilmer Martijn J, van den Heuvel Lambertus, Bultynck Geert, Parys Jan B, Missiaen Ludwig, Levtchenko Elena, De Smedt Humbert
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is caused by loss-of-function mutations in either PKD1 or PKD2 genes, which encode polycystin-1 (TRPP1) and polycystin-2 (TRPP2), respectively. Increased activity of the mammalian target of rapamycin (mTOR) pathway has been shown in PKD1 mutants but is less documented for PKD2 mutants. Clinical trials using mTOR inhibitors were disappointing, while the...
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