The role of primary cilia in the development and disease of the retina

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

(2013) Susanne Roosing et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

(2013) Alice E. Davidson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NPHP4mutation is linked to cerebello-oculo-renal syndrome and male infertility

(2013) A.M. Alazami et al.   CLINICAL GENETICS

ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice

(2013) Lourdes Valdés-Sánchez et al.   HUMAN MOLECULAR GENETICS

The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity

(2013) Amanda C. Leightner et al.   HUMAN MOLECULAR GENETICS

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport GeneIFT140in Skeletal Ciliopathies with Early Progressive Kidney Disease

(2013) Miriam Schmidts et al.   HUMAN MUTATION

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

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

(2012) Isabelle Perrault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation inC2orf71

(2012) L. M. Downs et al.   ANIMAL GENETICS

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

(2012) Moumita Chaki et al.   CELL

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies

(2012) Silvio Alessandro Di Gioia et al.   HUMAN MOLECULAR GENETICS

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

(2012) T. R. Webb et al.   HUMAN MOLECULAR GENETICS

RP1L1Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

(2012) Alice E. Davidson et al.   HUMAN MUTATION

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice

(2012) Iman Sahly et al.   JOURNAL OF CELL BIOLOGY

Exome sequencing identifies mutations inLZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

(2012) Vincent Marion et al.   JOURNAL OF MEDICAL GENETICS

Knockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and the pronephros in zebrafish

(2012) Qi Zhang et al.   MOLECULAR BIOLOGY OF THE CELL

The BBSome controls IFT assembly and turnaround in cilia

(2012) Qing Wei et al.   NATURE CELL BIOLOGY

Mutational Analysis of SDCCAG8 in Bardet-Biedl Syndrome Patients with Renal Involvement and Absent Polydactyly

(2012) Gail Billingsley et al.   OPHTHALMIC GENETICS

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

(2012) Shobi Veleri et al.   PLoS One

The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway

(2012) Gayle B. Collin et al.   PLoS One

Ofd1 Controls Dorso-Ventral Patterning and Axoneme Elongation during Embryonic Brain Development

(2012) Anna D'Angelo et al.   PLoS One

Kinesin-2 family in vertebrate ciliogenesis

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

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

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

(2012) Na Luo et al.   VISION RESEARCH

Ciliary signaling cascades in photoreceptors

(2012) Ozge Yildiz et al.   VISION RESEARCH

Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons

(2012) H Patil et al.   Cell Death & Disease

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

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

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

(2011) Cecilie Bredrup et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

(2011) Alejandro Estrada-Cuzcano et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Intraflagellar transport proteins in ciliogenesis of photoreceptor cells

(2011) Tina Sedmak et al.   BIOLOGY OF THE CELL

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

Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation

(2011) Nicolas F. Berbari et al.   DEVELOPMENTAL BIOLOGY

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

(2011) Chengtian Zhao et al.   EMBO JOURNAL

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

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

(2011) Artur V. Cideciyan et al.   HUMAN MOLECULAR GENETICS

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia

(2011) Suzanne Rix et al.   HUMAN MOLECULAR GENETICS

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

(2011) Ranad Shaheen et al.   HUMAN MUTATION

Whole-exome sequencing identifiesALMS1, IQCB1, CNGA3, andMYO7Amutations in patients with leber congenital amaurosis

(2011) Xia Wang et al.   HUMAN MUTATION

Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-mediated Photoreceptor Degeneration in Ciliopathies

(2011) Carlos A. Murga-Zamalloa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

(2011) Karsten Boldt et al.   JOURNAL OF CLINICAL INVESTIGATION

IFT20 is required for opsin trafficking and photoreceptor outer segment development

(2011) Brian T. Keady et al.   MOLECULAR BIOLOGY OF THE CELL

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

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

UNC119 is required for G protein trafficking in sensory neurons

(2011) Houbin Zhang et al.   NATURE NEUROSCIENCE

Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model

(2011) D. L. Simons 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

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

(2011) Seongjin Seo et al.   PLoS Genetics

Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy

(2010) Masakazu Akahori et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

(2010) Darryl Y. Nishimura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) Hua Jin et al.   CELL

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

(2010) Veena Singla et al.   DEVELOPMENTAL CELL

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

(2010) Jean Muller et al.   HUMAN GENETICS

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

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein

(2010) Christina F. Chakarova et al.   HUMAN MOLECULAR GENETICS

The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium

(2010) R. Jane Evans 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

The Intraflagellar Transport Protein Ift80 Is Essential for Photoreceptor Survival in a Zebrafish Model of Jeune Asphyxiating Thoracic Dystrophy

(2010) L. M. Hudak et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Prefoldin 5 Is Required for Normal Sensory and Neuronal Development in a Murine Model

(2010) YongSuk Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Intraflagellar transport molecules in ciliary and nonciliary cells of the retina

(2010) Tina Sedmak et al.   JOURNAL OF CELL BIOLOGY

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

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

Diffusion of a soluble protein, photoactivatable GFP, through a sensory cilium

(2010) Peter D. Calvert et al.   JOURNAL OF GENERAL PHYSIOLOGY

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

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

Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival

(2010) Y. Omori 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

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

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

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

(2009) Karlien L.M. Coene et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mouse Odf2 localizes to centrosomes and basal bodies in adult tissues and to the photoreceptor primary cilium

(2009) Stephanie Schweizer et al.   CELL AND TISSUE RESEARCH

Different roles for KIF17 and kinesin II in photoreceptor development and maintenance

(2009) Christine Insinna et al.   DEVELOPMENTAL DYNAMICS

Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptors

(2009) Marisa Zallocchi et al.   HEARING RESEARCH

RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis

(2009) Jungyeon Won et al.   HUMAN MOLECULAR GENETICS

Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse

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

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

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

(2009) E A Otto et al.   JOURNAL OF MEDICAL GENETICS

Trafficking of Membrane Proteins to Cone But Not Rod Outer Segments Is Dependent on Heterotrimeric Kinesin-II

(2009) P. Avasthi et al.   JOURNAL OF NEUROSCIENCE

Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa

(2009) T. Yamashita et al.   JOURNAL OF NEUROSCIENCE

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

(2009) Hemant Khanna et al.   NATURE GENETICS

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

Photoreceptor IFT Complexes Containing Chaperones, Guanylyl Cyclase 1 and Rhodopsin

(2009) Reshma Bhowmick et al.   TRAFFIC

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

(2008) Abdul Noor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle

(2008) Jonna Tallila et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Light-dependent CK2-mediated phosphorylation of centrins regulates complex formation with visual G-protein

(2008) Philipp Trojan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

The homodimeric kinesin, Kif17, is essential for vertebrate photoreceptor sensory outer segment development

(2008) Christine Insinna et al.   DEVELOPMENTAL BIOLOGY

Intraflagellar transport protein 172 is essential for primary cilia formation and plays a vital role in patterning the mammalian brain

(2008) Marat Gorivodsky et al.   DEVELOPMENTAL BIOLOGY

Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors

(2008) Christine Insinna et al.   DEVELOPMENTAL DYNAMICS

Assembly of primary cilia

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

A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund

(2008) A. C. Wiik et al.   GENOME RESEARCH

Convergent extension movements and ciliary function are mediated by ofd1 , a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene

(2008) Maria I. Ferrante et al.   HUMAN MOLECULAR GENETICS

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

MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

(2008) Francesco Brancati et al.   HUMAN MUTATION

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

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

(2008) Carmen C Leitch et al.   NATURE GENETICS

The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3

(2008) Stefan Veltel et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Spatial distribution of intraflagellar transport proteins in vertebrate photoreceptors

(2007) Katherine Luby-Phelps et al.   VISION RESEARCH