The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

KIAA0586is Mutated in Joubert Syndrome

(2015) Ruxandra Bachmann-Gagescu et al.   HUMAN MUTATION

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

(2015) R Bachmann-Gagescu et al.   JOURNAL OF MEDICAL GENETICS

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

(2014) Marta Romani et al.   Orphanet Journal of Rare Diseases

Ciliopathies: The Trafficking Connection

(2014) Kayalvizhi Madhivanan et al.   TRAFFIC

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

(2013) Karina Tuz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A HomozygousPDE6DMutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

(2013) Sophie Thomas et al.   HUMAN MUTATION

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

(2013) Marta Romani et al.   LANCET NEUROLOGY

Molecular complexes that direct rhodopsin transport to primary cilia

(2013) Jing Wang et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain

(2013) Sebiha Cevik et al.   PLoS Genetics

The Arf GAP ASAP1 provides a platform to regulate Arf4- and Rab11-Rab8-mediated ciliary receptor targeting

(2012) Jing Wang et al.   EMBO JOURNAL

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

(2012) Jeremy F Reiter et al.   EMBO REPORTS

Genotype–phenotype correlation inCC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

(2012) Ruxandra Bachmann-Gagescu et al.   JOURNAL OF MEDICAL GENETICS

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Molecular assemblies that control rhodopsin transport to the cilia

(2012) Dusanka Deretic et al.   VISION RESEARCH

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

(2011) Liyun Sang et al.   CELL

Rab6, Rab8, and MICAL3 Cooperate in Controlling Docking and Fusion of Exocytotic Carriers

(2011) Ilya Grigoriev et al.   CURRENT BIOLOGY

Targeted mutation of the talpid3 gene in zebrafish reveals its conserved requirement for ciliogenesis and Hedgehog signalling across the vertebrates

(2011) J. Ben et al.   DEVELOPMENT

CaMK-II is a PKD2 target that promotes pronephric kidney development and stabilizes cilia

(2011) Sarah C. Rothschild et al.   DEVELOPMENT

The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking

(2011) Ruxandra Bachmann-Gagescu et al.   HUMAN MOLECULAR GENETICS

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

(2011) Corey L. Williams et al.   JOURNAL OF CELL BIOLOGY

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

(2011) Francesc R Garcia-Gonzalo et al.   NATURE GENETICS

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome

(2011) C. J. Westlake et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Trafficking to the Ciliary Membrane: How to Get Across the Periciliary Diffusion Barrier?

(2010) Maxence V. Nachury et al.   Annual Review of Cell and Developmental Biology

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

(2010) C. A. Murga-Zamalloa et al.   HUMAN MOLECULAR GENETICS

The primary cilium: a signalling centre during vertebrate development

(2010) Sarah C. Goetz et al.   NATURE REVIEWS GENETICS

A Septin Diffusion Barrier at the Base of the Primary Cilium Maintains Ciliary Membrane Protein Distribution

(2010) Q. Hu et al.   SCIENCE

What drives cell morphogenesis: A look inside the vertebrate photoreceptor

(2009) Breandán Kennedy et al.   DEVELOPMENTAL DYNAMICS

CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

(2009) Soumaya Mougou-Zerelli et al.   HUMAN MUTATION

Flagellar membrane localization via association with lipid rafts

(2009) K. M. Tyler et al.   JOURNAL OF CELL SCIENCE

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

(2009) D. Doherty et al.   JOURNAL OF MEDICAL GENETICS

Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease

(2009) Dan Doherty   Seminars in Pediatric Neurology

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

Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors

(2008) Christine Insinna et al.   DEVELOPMENTAL DYNAMICS

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein

(2008) Erwin van Wijk 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

The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors

(2008) B. L. Krock et al.   JOURNAL OF CELL SCIENCE

Prevention of Amino Acid Conversion in SILAC Experiments with Embryonic Stem Cells

(2008) Sean C. Bendall et al.   MOLECULAR & CELLULAR PROTEOMICS

Identification of Genetic and Chemical Modulators of Zebrafish Mechanosensory Hair Cell Death

(2008) Kelly N. Owens et al.   PLoS Genetics