The presence of single, non-motile “primary” cilia on the surface of epithelial cells has been
well described since the 1960s. However, for decades these organelles were believed to be …

Cilia are plasma membrane protrusions that act as cellular propellers or antennae. To
perform these functions, cilia must maintain a composition distinct from those of the …

Brain disorders are characterized by the progressive loss of structure and function of the
brain as a consequence of progressive degeneration and/or death of nerve cells. Aging is a …

Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic
disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects …

The hedgehog (Hh) family comprises sonic hedgehog (Shh), Indian hedgehog (Ihh), and
desert hedgehog (Dhh), which are versatile signaling molecules involved in a wide …

Joubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked
inheritance, the diagnostic hallmark of which is a unique cerebellar and brainstem …

Meckel–Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly
syndrome caused by mutations in genes encoding proteins that are structural or functional …

The primary cilium, a sensory appendage that is present in most mammalian cells, plays
critical roles in signaling pathways and cell cycle progression. Mutations that affect the …

Essential to development, primary cilia are microtubule-based cellular organelles that
protrude from the surface of cells. Acting as cellular antenna, primary cilia play central roles …

Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable
progress has been made in understanding the molecular basis of these genetically …