Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking

Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse

(2009) Si-Tse Jiang et al.   HUMAN MOLECULAR GENETICS

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

(2008) Vincent Cantagrel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

(2008) Nicholas T. Gorden et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CP110 Suppresses Primary Cilia Formation through Its Interaction with CEP290, a Protein Deficient in Human Ciliary Disease

(2008) William Y. Tsang et al.   DEVELOPMENTAL CELL

Building it up and taking it down: The regulation of vertebrate ciliogenesis

(2008) Nicole Santos et al.   DEVELOPMENTAL DYNAMICS

Assembly of primary cilia

(2008) Lotte B. Pedersen et al.   DEVELOPMENTAL DYNAMICS

Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders

(2008) Lucien Corbeel et al.   EUROPEAN JOURNAL OF PEDIATRICS

Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice

(2008) Si-Tse Jiang et al.   HUMAN MOLECULAR GENETICS

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

(2008) Joon Kim et al.   HUMAN MOLECULAR GENETICS

Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice

(2008) Guoqing Sheng et al.   JOURNAL OF CLINICAL INVESTIGATION

Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies

(2008) Jennifer E. Doering et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Jouberin localizes to collecting ducts and interacts with nephrocystin-1

(2008) Lorraine Eley et al.   KIDNEY INTERNATIONAL

Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells

(2008) Tae Joo Park et al.   NATURE GENETICS