Molecular pathogenesis of autosomal dominant polycystic kidney disease

Expert Reviews in Molecular Medicine
Bradley K YoderRichard Sandford

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is one of the commonest inherited human disorders yet remains relatively unknown to the wider medical, scientific and public audience. ADPKD is characterised by the development of bilateral enlarged kidneys containing multiple fluid-filled cysts and is a leading cause of end-stage renal failure (ESRF). ADPKD is caused by mutations in two genes: PKD1 and PKD2. The protein products of the PKD genes, polycystin-1 and polycystin-2, form a calcium-regulated, calcium-permeable ion channel. The polycystin complex is implicated in regulation of the cell cycle via multiple signal transduction pathways as well as the mechanosensory function of the renal primary cilium, an enigmatic cellular organelle whose role in normal physiology is still poorly understood. Defects in cilial function are now documented in several other human diseases including autosomal recessive polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome and many animal models of polycystic kidney disease. Therapeutic trials in these animal models of polycystic kidney disease have identified several promising drugs that ameliorate disease severity. However, elucidation of the function of the polycystins and t...Continue Reading

Citations

Jan 21, 2009·Nature Reviews. Drug Discovery·Alan S Verkman, Luis J V Galietta
Jun 27, 2013·World Journal of Gastroenterology : WJG·Marten A LantingaJoost P H Drenth
Nov 7, 2009·Hypertension Research : Official Journal of the Japanese Society of Hypertension·Hui DuQi Qian
Feb 4, 2014·Kidney International·Arlene B Chapman
Aug 5, 2010·Biophysical Journal·Andrew P StewartJ Michael Edwardson
Jan 19, 2010·Veterinary Pathology·P VogelA T Sands
Sep 12, 2017·Laboratory Investigation; a Journal of Technical Methods and Pathology·Xuguang Nie, Lois J Arend
Nov 13, 2007·Nephrology·James A Deane, Sharon D Ricardo
Feb 8, 2008·American Journal of Physiology. Renal Physiology·Juan DuRong Ma
May 20, 2008·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Fred J Stevens
Jun 3, 2015·Bulletin of Experimental Biology and Medicine·N I ChalisovaG A Ryzhak
Aug 24, 2007·American Journal of Physiology. Renal Physiology·Thomas Weimbs
Oct 12, 2010·American Journal of Physiology. Renal Physiology·Masanori KugitaShizuko Nagao
Jan 20, 2007·Biochemical Society Transactions·S QamarR Sandford
Jan 31, 2014·American Journal of Physiology. Renal Physiology·Timo Rieg, Donald E Kohan
Jul 16, 2013·Biochemistry·Peter OatleyJ Michael Edwardson
Mar 14, 2012·Biochemistry·Peter OatleyJ Michael Edwardson

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