Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease

PC Harris, VE Torres - The Journal of clinical investigation, 2014 - Am Soc Clin Investig
Recent advances in defining the genetic mechanisms of disease causation and modification
in autosomal dominant polycystic kidney disease (ADPKD) have helped to explain some …

Polycystic kidney disease

PC Harris, VE Torres - Annual review of medicine, 2009 - annualreviews.org
A number of inherited disorders result in renal cyst development. The most common form,
autosomal dominant polycystic kidney disease (ADPKD), is a disorder most often diagnosed …

A scalable organoid model of human autosomal dominant polycystic kidney disease for disease mechanism and drug discovery

T Tran, CJ Song, T Nguyen, SY Cheng, JA McMahon… - Cell Stem Cell, 2022 - cell.com
Human pluripotent stem-cell-derived organoids are models for human development and
disease. We report a modified human kidney organoid system that generates thousands of …

Defective glucose metabolism in polycystic kidney disease identifies a new therapeutic strategy

I Rowe, M Chiaravalli, V Mannella, V Ulisse, G Quilici… - Nature medicine, 2013 - nature.com
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder
characterized by bilateral renal cyst formation. Recent identification of signaling cascades …

[HTML][HTML] Autosomal dominant polycystic kidney disease: the last 3 years

VE Torres, PC Harris - Kidney international, 2009 - Elsevier
Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal
monogenic disorder. It has large inter-and intra-familial variability explained to a large extent …

The primary cilium as a complex signaling center

NF Berbari, AK O'Connor, CJ Haycraft, BK Yoder - Current biology, 2009 - cell.com
Respect for the primary cilium has undergone a remarkable renaissance over the past
decade, and it is now thought to be an essential regulator of numerous signaling pathways …

Discovery and preclinical evaluation of anti-miR-17 oligonucleotide RGLS4326 for the treatment of polycystic kidney disease

EC Lee, T Valencia, C Allerson, A Schairer… - Nature …, 2019 - nature.com
Autosomal dominant polycystic kidney disease (ADPKD), caused by mutations in either
PKD1 or PKD2 genes, is one of the most common human monogenetic disorders and the …

A novel evolutionarily conserved domain of cell‐adhesion GPCRs mediates autoproteolysis

D Araç, AA Boucard, MF Bolliger, J Nguyen… - The EMBO …, 2012 - embopress.org
The G protein‐coupled receptor (GPCR) Proteolysis Site (GPS) of cell‐adhesion GPCRs
and polycystic kidney disease (PKD) proteins constitutes a highly conserved autoproteolysis …

Polycystin channel complexes

O Esarte Palomero, M Larmore… - Annual review of …, 2023 - annualreviews.org
Polycystin subunits can form hetero-and homotetrameric ion channels in the membranes of
various compartments of the cell. Homotetrameric polycystin channels are voltage-and …

The cell biology of polycystic kidney disease

HC Chapin, MJ Caplan - Journal of Cell Biology, 2010 - rupress.org
Polycystic kidney disease is a common genetic disorder in which fluid-filled cysts displace
normal renal tubules. Here we focus on autosomal dominant polycystic kidney disease …