Ciliopathies are inherited human disorders caused by both motile and non‐motile cilia
dysfunction that form an important and rapidly expanding disease category. Ciliopathies are …

Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …

Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …

Abstract Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive
disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the …

Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a
characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic …

Joubert syndrome is a group of rare disorders that stem from defects in a sensory organelle,
the primary cilia. Affected patients often present with disorders involving multiple organ …

To elucidate the role of centriolar satellites in ciliogenesis, we deleted the gene encoding
the PCM1 protein, an integral component of satellites. PCM1 null human cells show marked …

Primary cilia are immotile organelles known for their roles in development and cell signaling.
Defects in primary cilia result in a range of disorders named ciliopathies. Because this …

Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive
cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia …

Optimal lysosome function requires maintenance of an acidic pH maintained by proton
pumps in combination with a counterion transporter such as the Cl−/H+ exchanger, CLCN7 …