Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery

NPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone

(2014) J. Awata et al.   JOURNAL OF CELL SCIENCE

Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis

(2014) Ann Marie Hynes et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Centriolar Satellite Protein AZI1 Interacts with BBS4 and Regulates Ciliary Trafficking of the BBSome

(2014) Xitiz Chamling et al.   PLoS Genetics

Assembling a primary cilium

(2013) Sehyun Kim et al.   CURRENT OPINION IN CELL BIOLOGY

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

(2013) Yan Zhang et al.   HUMAN MOLECULAR GENETICS

Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis

(2013) Marine Barbelanne et al.   HUMAN MOLECULAR GENETICS

BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking

(2013) Q. Zhang et al.   JOURNAL OF CELL SCIENCE

Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration

(2013) Theodore G. Drivas et al.   JOURNAL OF CLINICAL INVESTIGATION

Targeting of vasoactive intestinal peptide receptor 2, VPAC2, a secretin family G-protein coupled receptor, to primary cilia

(2013) L. Soetedjo et al.   Biology Open

Genotype-Phenotype Correlations in Bardet-Biedl Syndrome

(2012) Anthony B. Daniels et al.   ARCHIVES OF OPHTHALMOLOGY

A Smoothened-Evc2 Complex Transduces the Hedgehog Signal at Primary Cilia

(2012) Karolin V. Dorn et al.   DEVELOPMENTAL CELL

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

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

(2012) Qihong Zhang et al.   HUMAN MOLECULAR GENETICS

Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome

(2012) Qihong Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium

(2012) Timothy R. Stowe et al.   MOLECULAR BIOLOGY OF THE CELL

The BBSome controls IFT assembly and turnaround in cilia

(2012) Qing Wei et al.   NATURE CELL BIOLOGY

A size-exclusion permeability barrier and nucleoporins characterize a ciliary pore complex that regulates transport into cilia

(2012) Hooi Lynn Kee et al.   NATURE CELL BIOLOGY

The Centrosome in Cells and Organisms

(2012) M. Bornens   SCIENCE

Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome

(2011) Edwin M. Stone   ARCHIVES OF OPHTHALMOLOGY

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

(2011) Liyun Sang et al.   CELL

Stages of ciliogenesis and regulation of ciliary length

(2011) Prachee Avasthi et al.   DIFFERENTIATION

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 ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain

(2011) Ben Chih et al.   NATURE CELL BIOLOGY

The centrosome cycle: Centriole biogenesis, duplication and inherent asymmetries

(2011) Erich A. Nigg et al.   NATURE 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

A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened

(2011) Seongjin Seo et al.   PLoS Genetics

The Conserved Bardet-Biedl Syndrome Proteins Assemble a Coat that Traffics Membrane Proteins to Cilia

(2010) Hua Jin et al.   CELL

Centrioles: active players or passengers during mitosis?

(2010) Alain Debec et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins

(2010) Jacqueline S. Domire et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Bardet-Biedl Syndrome-associated Small GTPase ARL6 (BBS3) Functions at or near the Ciliary Gate and Modulates Wnt Signaling

(2010) Cheryl J. Wiens et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content

(2010) Branch Craige et al.   JOURNAL OF CELL BIOLOGY

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

(2010) S. Seo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Centrioles, Centrosomes, and Cilia in Health and Disease

(2009) Erich A. Nigg et al.   CELL

TheChlamydomonas reinhardtiiBBSome is an IFT cargo required for export of specific signaling proteins from flagella

(2009) Karl-Ferdinand Lechtreck et al.   JOURNAL OF CELL BIOLOGY

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

(2009) Norann A. Zaghloul et al.   JOURNAL OF CLINICAL INVESTIGATION

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

A BBSome Subunit Links Ciliogenesis, Microtubule Stability, and Acetylation

(2008) Alexander V. Loktev et al.   DEVELOPMENTAL CELL

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

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

(2008) Tobias Schäfer 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

Localization of Inv in a distinctive intraciliary compartment requires the C-terminal ninein-homolog-containing region

(2008) D. Shiba et al.   JOURNAL OF CELL SCIENCE

Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

(2008) A. S. Shah et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

(2008) N. F. Berbari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

(2007) Edgar A. Otto et al.   HUMAN MUTATION