NIH R01 · 2024
Cilia calcium dysregulation in polycystic kidney disease
ABSTRACT. The primary cilium is a Ca2+-privileged, antenna-like cellular organelle found in all organ systems of the human body. The importance of primary cilia are highlighted by the growing number of renal ciliopathies— many of which are caused by mutations in Ca2+ signaling effector genes. Autosomal dominant polycystic kidney disease (ADPKD) is a fatal renal ciliopathy that can be caused by mutations in the PKD2 Ca2+ channel. Despite 20 years since determining its genetic cause, we do not know how ADPKD mutations alter PKD2 channel function and if Ca2+ dysregulation in the primary cilium contributes to kidney cyst formation. These basic questions remain outstanding because PKD2 localizes…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.