We are interested in how the InsP3R works, as a molecule, as a channel complex, and as a component of a complex signaling pathway.
The ryanodine receptor (RyR) releases calcium ions from the sarcoplasmic /endoplasmic reticulum (SR/ER) into the cytosol and thereby converts extracellular stimuli into intracellular calcium signals or amplifies and regulates the intracellular calcium concentration.
Autosomal dominant polycystic kidney disease (ADPKD) affects more than 1 in 1000 live births and is the most common monogenic cause of kidney failure in humans. Two genes, PKD1 and PKD2, were discovered using positional cloning approaches. Mutations in either of these proteins cause virtually indistinguishable clinical presentations.