[HTML][HTML] A polycystin-centric view of cyst formation and disease: the polycystins revisited

ACM Ong, PC Harris - Kidney international, 2015 - Elsevier
ACM Ong, PC Harris
Kidney international, 2015Elsevier
It is 20 years since the identification of PKD1, the major gene mutated in autosomal
dominant polycystic kidney disease (ADPKD), followed closely by the cloning of PKD2.
These major breakthroughs have led in turn to a period of intense investigation into the
function of the two proteins encoded, polycystin-1 and polycystin-2, and how defects in
either protein lead to cyst formation and nonrenal phenotypes. In this review, we summarize
the major findings in this area and present a current model of how the polycystin proteins …
It is 20 years since the identification of PKD1, the major gene mutated in autosomal dominant polycystic kidney disease (ADPKD), followed closely by the cloning of PKD2. These major breakthroughs have led in turn to a period of intense investigation into the function of the two proteins encoded, polycystin-1 and polycystin-2, and how defects in either protein lead to cyst formation and nonrenal phenotypes. In this review, we summarize the major findings in this area and present a current model of how the polycystin proteins function in health and disease.
Elsevier