-
Article
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
Joseph Gleeson and colleagues identify CEP41 mutations as a cause of Joubert syndrome. Their functional studies suggest that CEP41 regulates ciliary entry of TTLL6, an enzyme required for tubulin glutamylation at...
-
Article
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome
Joubert syndrome is a developmental disease affecting multiple parts of the body, including the cerebellum in the brain. Now, Joseph Gleeson and his colleagues show that mouse models of Joubert syndrome show d...
-
Article
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
Joseph Gleeson and colleagues show that Ahi1 is required in mice for retinal outer segment development and displays dosage-sensitive genetic interactions with Nphp1. They further show that a missense allele of AH...
-
Article
Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy
Canonical Wnt signaling is known to be crucial in embryonic organ development. Joseph Gleeson and his colleagues now report that it is also important in the adult homeostasis of the kidney, especially after in...
-
Article
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Joubert syndrome–related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis hypoplasia and a peculiar brainstem malformation known as the 'molar tooth sign'. ...
