Ciliopathies: The Trafficking Connection

Renal-Retinal Ciliopathy Gene Sdccag8 Regulates DNA Damage Response Signaling

(2014) R. Airik et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals

(2014) Xuan Ye et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1

(2014) Zenobia B. Mehta et al.   TRAFFIC

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

(2014) Xitiz Chamling et al.   PLoS Genetics

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

The Ciliary G-Protein-Coupled Receptor Gpr161 Negatively Regulates the Sonic Hedgehog Pathway via cAMP Signaling

(2013) Saikat Mukhopadhyay et al.   CELL

A Differential Cargo-Loading Model of Ciliary Length Regulation by IFT

(2013) Kathryne N. Wren et al.   CURRENT BIOLOGY

Architectural Insights into a Ciliary Partition

(2013) Puey Ounjai et al.   CURRENT BIOLOGY

Isolation of intraflagellar transport trains

(2013) Caterina Mencarelli et al.   Cytoskeleton

Characterization of ciliary targeting sequence of rat melanin-concentrating hormone receptor 1

(2013) Asami Nagata et al.   GENERAL AND COMPARATIVE ENDOCRINOLOGY

Centriole distal appendages promote membrane docking, leading to cilia initiation

(2013) B. E. Tanos et al.   GENES & DEVELOPMENT

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

(2013) Marine Barbelanne et al.   HUMAN MOLECULAR GENETICS

Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization

(2013) Victor Hernandez-Hernandez et al.   HUMAN MOLECULAR GENETICS

An in vitro assay for entry into cilia reveals unique properties of the soluble diffusion barrier

(2013) David K. Breslow et al.   JOURNAL OF CELL BIOLOGY

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

Signals Governing the Trafficking and Mistrafficking of a Ciliary GPCR, Rhodopsin

(2013) K. H. Lodowski et al.   JOURNAL OF NEUROSCIENCE

Chemically inducible diffusion trap at cilia reveals molecular sieve–like barrier

(2013) Yu-Chun Lin et al.   Nature Chemical Biology

The nephronophthisis gene product NPHP2/Inversin interacts with Aurora A and interferes with HDAC6-mediated cilia disassembly

(2013) M. Mergen et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

The ciliary flow sensor and polycystic kidney disease

(2013) Fruzsina Kotsis et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

A Complex of BBS1 and NPHP7 Is Required for Cilia Motility in Zebrafish

(2013) Yun Hee Kim et al.   PLoS One

CCDC41 is required for ciliary vesicle docking to the mother centriole

(2013) K. Joo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular complexes that direct rhodopsin transport to primary cilia

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

Neuropeptide Y Family Receptors Traffic via the Bardet-Biedl Syndrome Pathway to Signal in Neuronal Primary Cilia

(2013) Alexander V. Loktev et al.   Cell Reports

TGF-β Signaling Is Associated with Endocytosis at the Pocket Region of the Primary Cilium

(2013) Christian Alexandro Clement et al.   Cell Reports

Wdpcp, a PCP Protein Required for Ciliogenesis, Regulates Directional Cell Migration and Cell Polarity by Direct Modulation of the Actin Cytoskeleton

(2013) Cheng Cui et al.   PLOS BIOLOGY

Single molecule imaging reveals a major role for diffusion in the exploration of ciliary space by signaling receptors

(2013) Fan Ye et al.   eLife

Primary ciliogenesis requires the distal appendage component Cep123

(2013) J. E. Sillibourne et al.   Biology Open

Three-Dimensional Architecture of the Rod Sensory Cilium and Its Disruption in Retinal Neurodegeneration

(2012) Jared C. Gilliam et al.   CELL

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

(2012) Moumita Chaki et al.   CELL

Endocytosis Genes Facilitate Protein and Membrane Transport in C. elegans Sensory Cilia

(2012) Oktay I. Kaplan et al.   CURRENT BIOLOGY

The ciliary pocket

(2012) Alexandre Benmerah   CURRENT OPINION IN CELL BIOLOGY

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

(2012) Jing Wang et al.   EMBO JOURNAL

Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies

(2012) Sarah E. Conduit et al.   FEBS LETTERS

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly

(2012) Brian G. Coon et al.   HUMAN MOLECULAR GENETICS

The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ

(2012) Sandra Habbig et al.   HUMAN MOLECULAR GENETICS

The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module

(2012) Vanessa A. van Rahden et al.   HUMAN MOLECULAR GENETICS

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

(2012) Qihong Zhang et al.   HUMAN MOLECULAR GENETICS

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome

(2012) Na Luo et al.   HUMAN MOLECULAR GENETICS

The Ciliary Protein Nephrocystin-4 Translocates the Canonical Wnt Regulator Jade-1 to the Nucleus to Negatively Regulate β-Catenin Signaling

(2012) Lori Borgal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Rab8 Guanine Nucleotide Exchange Factor-Effector Interaction Network Regulates Primary Ciliogenesis

(2012) Shanshan Feng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SUMOylation of the small GTPase ARL-13 promotes ciliary targeting of sensory receptors

(2012) Yujie Li et al.   JOURNAL OF CELL BIOLOGY

Cep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesis

(2012) Kerstin N. Schmidt et al.   JOURNAL OF CELL BIOLOGY

Loss of the Ciliary Kinase Nek8 Causes Left-Right Asymmetry Defects

(2012) D. K. Manning et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

Rab8a regulates the exocyst-mediated kiss-and-run discharge of the Dictyostelium contractile vacuole

(2012) Miriam Essid 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

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

(2012) Ji Eun Lee et al.   NATURE GENETICS

Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects

(2012) Shobi Veleri et al.   PLoS One

ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting

(2012) M. C. Humbert et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

(2012) J. H. Lee et al.   SCIENCE

OCRL1 Modulates Cilia Length in Renal Epithelial Cells

(2012) Youssef Rbaibi et al.   TRAFFIC

Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish

(2012) Na Luo et al.   VISION RESEARCH

Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins

(2012) Nele Schwarz et al.   VISION RESEARCH

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

(2011) Lijia Huang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

(2011) William E. Dowdle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Liyun Sang et al.   CELL

Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development

(2011) Roslyn J. Simms et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

The ciliary transitional zone and nephrocystins

(2011) Dai Shiba et al.   DIFFERENTIATION

Architecture and function of IFT complex proteins in ciliogenesis

(2011) Michael Taschner et al.   DIFFERENTIATION

Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos

(2011) Chengtian Zhao et al.   EMBO JOURNAL

An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium

(2011) K. J. Wright et al.   GENES & DEVELOPMENT

The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic

(2011) Nele Schwarz et al.   HUMAN MOLECULAR GENETICS

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

Impaired neural development in a zebrafish model for Lowe syndrome

(2011) Irene Barinaga-Rementeria Ramirez et al.   HUMAN MOLECULAR GENETICS

The mechanics of the primary cilium: An intricate structure with complex function

(2011) David A. Hoey et al.   JOURNAL OF BIOMECHANICS

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

Polycystin-2 takes different routes to the somatic and ciliary plasma membrane

(2011) Helen Hoffmeister et al.   JOURNAL OF CELL BIOLOGY

Localization of retinitis pigmentosa 2 to cilia is regulated by Importin  2

(2011) T. W. Hurd et al.   JOURNAL OF CELL SCIENCE

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

(2011) Claudia Dafinger et al.   JOURNAL OF CLINICAL INVESTIGATION

Hook2 is involved in the morphogenesis of the primary cilium

(2011) Carole L. Baron Gaillard et al.   MOLECULAR BIOLOGY OF THE CELL

Arl13b regulates ciliogenesis and the dynamic localization of Shh signaling proteins

(2011) Christine E. Larkins et al.   MOLECULAR BIOLOGY OF THE CELL

A conserved signal and GTPase complex are required for the ciliary transport of polycystin-1

(2011) Heather H. Ward et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2011) Ben Chih 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

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

(2011) Madeline A Lancaster et al.   NATURE MEDICINE

Inhibition of the p38 MAPK pathway ameliorates renal fibrosis in an NPHP2 mouse model

(2011) Noriyuki Sugiyama et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Steric volume exclusion sets soluble protein concentrations in photoreceptor sensory cilia

(2011) M. Najafi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting

(2011) A. L. D. Tadenev et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

The Exocyst Protein Sec10 Interacts with Polycystin-2 and Knockdown Causes PKD-Phenotypes

(2011) Ben Fogelgren et al.   PLoS Genetics

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

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

Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles

(2010) Veena Singla et al.   DEVELOPMENTAL CELL

Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

(2010) C. Cui et al.   Disease Models & Mechanisms

TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia

(2010) S. Mukhopadhyay et al.   GENES & DEVELOPMENT

NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development

(2010) Jungyeon Won et al.   HUMAN MOLECULAR GENETICS

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

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

(2010) Haifa Hichri et al.   HUMAN MUTATION

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

The small GTPases ARL-13 and ARL-3 coordinate intraflagellar transport and ciliogenesis

(2010) Yujie Li et al.   JOURNAL OF CELL BIOLOGY

Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport inCaenorhabditis elegans

(2010) Sebiha Cevik et al.   JOURNAL OF CELL BIOLOGY

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

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

The cytoplasmic tail of fibrocystin contains a ciliary targeting sequence

(2010) John A. Follit et al.   JOURNAL OF CELL BIOLOGY

The AP-1 clathrin adaptor facilitates cilium formation and functions with RAB-8 in C. elegans ciliary membrane transport

(2010) O. I. Kaplan et al.   JOURNAL OF CELL SCIENCE

The primary cilium at a glance

(2010) P. Satir et al.   JOURNAL OF CELL SCIENCE

Retinal Degeneration and Failure of Photoreceptor Outer Segment Formation in Mice with Targeted Deletion of the Joubert Syndrome Gene, Ahi1

(2010) J. E. Westfall et al.   JOURNAL OF NEUROSCIENCE

The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network

(2010) Martin Gerner et al.   KIDNEY INTERNATIONAL

Functional genomic screen for modulators of ciliogenesis and cilium length

(2010) Joon Kim et al.   NATURE

Ciliary entry of the kinesin-2 motor KIF17 is regulated by importin-β2 and RanGTP

(2010) John F. Dishinger et al.   NATURE CELL BIOLOGY

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

(2010) Enza Maria Valente et al.   NATURE GENETICS

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

(2010) Carrie M Louie et al.   NATURE GENETICS

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

(2010) Edgar A Otto et al.   NATURE GENETICS

The primary cilium: a signalling centre during vertebrate development

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

A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway

(2010) Salvatore Bellavia et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Coordination of Rab8 and Rab11 in primary ciliogenesis

(2010) A. Knodler et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis

(2010) Su Kyoung Kim et al.   SCIENCE

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

(2010) Q. Hu et al.   SCIENCE

The Nuclear Pore Complex and Nuclear Transport

(2010) S. R. Wente et al.   Cold Spring Harbor Perspectives in Biology

Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform

(2010) Pamela R. Pretorius et al.   PLoS Genetics

Making sense of cilia in disease: The human ciliopathies

(2009) Kate Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

(2009) F Brancati et al.   CLINICAL GENETICS

Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4

(2009) Jana Mazelova et al.   EMBO JOURNAL

Retrograde Intraflagellar Transport Mutants Identify Complex A Proteins With Multiple Genetic Interactions in Chlamydomonas reinhardtii

(2009) C. Iomini et al.   GENETICS

Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase

(2009) Brian G. Coon et al.   HUMAN MOLECULAR GENETICS

A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling

(2009) Scott D. Weatherbee et al.   HUMAN MOLECULAR GENETICS

Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse

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

Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component

(2009) Elena Kudryashova et al.   HUMAN MOLECULAR GENETICS

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

(2009) Seongjin Seo et al.   HUMAN MOLECULAR GENETICS

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

(2009) Yi-Chun Hsiao et al.   HUMAN MOLECULAR GENETICS

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

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

Electron-tomographic analysis of intraflagellar transport particle trains in situ

(2009) Gaia Pigino et al.   JOURNAL OF CELL BIOLOGY

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

Lateral transport of Smoothened from the plasma membrane to the membrane of the cilium

(2009) Ljiljana Milenkovic et al.   JOURNAL OF CELL BIOLOGY

Segregation of sphingolipids and sterols during formation of secretory vesicles at the trans-Golgi network

(2009) Robin W. Klemm et al.   JOURNAL OF CELL BIOLOGY

Syntaxin 3 and SNAP-25 pairing, regulated by omega-3 docosahexaenoic acid, controls the delivery of rhodopsin for the biogenesis of cilia-derived sensory organelles, the rod outer segments

(2009) J. Mazelova et al.   JOURNAL OF CELL SCIENCE

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

(2009) N. J. Bialas et al.   JOURNAL OF CELL SCIENCE

The Exocyst Protein Sec10 Is Necessary for Primary Ciliogenesis and Cystogenesis In Vitro

(2009) Xiaofeng Zuo et al.   MOLECULAR BIOLOGY OF THE CELL

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

(2009) Monique Jacoby et al.   NATURE GENETICS

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

(2009) Stephanie L Bielas et al.   NATURE GENETICS

Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

(2009) Madeline A Lancaster et al.   NATURE MEDICINE

Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling

(2009) K. F. Liem et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Kinesin Protein Kif7 Is a Critical Regulator of Gli Transcription Factors in Mammalian Hedgehog Signaling

(2009) H. O.-L. Cheung et al.   Science Signaling

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

(2008) Carsten Bergmann et al.   AMERICAN JOURNAL OF HUMAN 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

Specificity of Arl2/Arl3 signaling is mediated by a ternary Arl3-effector-GAP complex

(2008) Stefan Veltel et al.   FEBS LETTERS

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

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning

(2008) Marwan K. Tayeh 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

Nek8 Regulates the Expression and Localization of Polycystin-1 and Polycystin-2

(2008) E. Sohara et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis

(2008) E. A. Otto et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Large Scale Screening for Novel Rab Effectors Reveals Unexpected Broad Rab Binding Specificity

(2008) Mitsunori Fukuda et al.   MOLECULAR & CELLULAR PROTEOMICS

Kruppel-Like Zinc Finger Protein Glis2 Is Essential for the Maintenance of Normal Renal Functions

(2008) Y.-S. Kim et al.   MOLECULAR AND CELLULAR BIOLOGY

Arf GTPase-activating Protein ASAP1 Interacts with Rab11 Effector FIP3 and Regulates Pericentrosomal Localization of Transferrin Receptor–positive Recycling Endosome

(2008) Hiroki Inoue et al.   MOLECULAR BIOLOGY OF THE CELL

Different Effects of Tetrahymena IFT172 Domains on Anterograde and Retrograde Intraflagellar Transport

(2008) Che-Chia Tsao et al.   MOLECULAR BIOLOGY OF THE CELL

Identification of Ciliary Localization Sequences within the Third Intracellular Loop of G Protein-coupled Receptors

(2008) Nicolas F. Berbari et al.   MOLECULAR BIOLOGY OF THE CELL

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

(2008) Carmen C Leitch et al.   NATURE GENETICS

Defects in ciliary localization of Nek8 is associated with cystogenesis

(2008) Melissa L. Trapp et al.   PEDIATRIC NEPHROLOGY

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

The stumpy gene is required for mammalian ciliogenesis

(2008) T. Town et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA