Targeting the collecting duct water channel aquaporin 2 (AQP2) to the plasma membrane is
essential for the maintenance of mammalian water homeostasis. The vasopressin V2 …

Inside cells, the endoplasmic reticulum (ER) forms the largest Ca 2+ store. Ca 2+ is actively
pumped by the SERCA pumps in the ER, where intraluminal Ca 2+-binding proteins enable …

Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many
such disorders are secondary to perturbation in brain development and/or function. The …

Although the genetic basis of many kidney diseases is being rapidly elucidated, their
experimental study remains problematic owing to the lack of suitable models. The fruitfly …

Polycystic liver disease (PLD) is a group of genetic disorders characterized by progressive
development of cholangiocyte-derived fluid-filled hepatic cysts. PLD is the most common …

Autosomal dominant (AD) and autosomal recessive (AR) polycystic kidney diseases (PKD)
are severe multisystem genetic disorders characterized with formation and uncontrolled …

Background Mutations in PKD1 and PKD2, which encode the transmembrane proteins
polycystin-1 and polycystin-2, respectively, cause autosomal dominant polycystic kidney …

A lesser known but crucially important downstream effect of Rho family GTPases is the
regulation of gene expression. This major role is mediated via the cytoskeleton, the …

Recently, there has been an increased focus on the influences of mitochondrial dysfunction
on various pathologies. Mitochondria are major intracellular organelles with a variety of …

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent inherited
kidney disease. Transepithelial fluid secretion is one of the key factors of cystogenesis in …