Ciliopathies encompass a broad array of clinical findings associated with genetic defects in
biogenesis and/or function of the primary cilium, a ubiquitous organelle involved in the …

The ciliopathies are a group of related inherited diseases characterized by malformations in
organ development. The diseases affect multiple organ systems, with kidney, skeleton, and …

Distinct mutations in the centrosomal-cilia protein CEP290 lead to diverse clinical findings in
syndromic ciliopathies. We show that CEP290 localizes to the transition zone in ciliated …

The human PKD2 locus encodes Polycystin-2 (PC2), a TRPP channel that localises to
several distinct cellular compartments, including the cilium. PKD2 mutations cause …

Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-
threatening monogenic renal disease. ADPKD results from mutations in either of two …

Cystic kidney diseases (CKDs) affect millions of people worldwide. The defining
pathological features are fluid-filled cysts developing from nephric tubules due to defective …

The Hippo pathway nuclear effector Yes-associated protein (YAP) potentiates the
progression of polycystic kidney disease (PKD) arising from ciliopathies. The mechanisms …

Motile and primary cilia (PC) are microtubule-based structures located at the cell surface of
many cell types. Cilia govern cellular functions ranging from motility to integration of …

Cilia and flagella are surface-exposed, finger-like organelles whose core consists of a
microtubule (MT)-based axoneme that grows from a modified centriole, the basal body. Cilia …

Variants in genes which encode for polycystin-1 and polycystin-2 cause most forms of
autosomal dominant polycystic disease (ADPKD). Despite our strong understanding of the …