CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies

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

Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis

(2014) Shobi Veleri et al.   Nature Communications

Architectural Insights into a Ciliary Partition

(2013) Puey Ounjai et al.   CURRENT BIOLOGY

Developmental changes in ciliary motility on choroid plexus epithelial cells during the perinatal period

(2013) Yuta Nonami et al.   Cytoskeleton

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

(2013) Yan Zhang 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

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

(2013) Zakia A. Abdelhamed 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

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

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

CEP162 is an axoneme-recognition protein promoting ciliary transition zone assembly at the cilia base

(2013) Won-Jing Wang et al.   NATURE CELL BIOLOGY

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

Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development

(2013) Amy R Barker et al.   Organogenesis

Primary ciliogenesis requires the distal appendage component Cep123

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

Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia

(2012) Gordana Juric-Sekhar et al.   ACTA NEUROPATHOLOGICA

The Spinocerebellar Ataxia-Associated Gene Tau Tubulin Kinase 2 Controls the Initiation of Ciliogenesis

(2012) Sarah C. Goetz et al.   CELL

Microtubules Enable the Planar Cell Polarity of Airway Cilia

(2012) Eszter K. Vladar et al.   CURRENT BIOLOGY

The ciliary pocket

(2012) Alexandre Benmerah   CURRENT OPINION IN CELL BIOLOGY

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

Non-syndromic retinal ciliopathies: translating gene discovery into therapy

(2012) A. Estrada-Cuzcano et al.   HUMAN MOLECULAR GENETICS

Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies

(2012) Alyson Ashe 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

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

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

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

(2012) Rivka A. Rachel et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

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

Proteomic analysis of multiple primary cilia reveals a novel mode of ciliary development in mammals

(2012) K. Narita et al.   Biology Open

Putative roles of cilia in polycystic kidney disease

(2011) Paul Winyard et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

(2011) Liyun Sang et al.   CELL

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders

(2011) Ji E Lee et al.   CURRENT OPINION IN NEUROLOGY

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders

(2011) SHIFTEH SATTAR et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Strange as it may seem: the many links between Wnt signaling, planar cell polarity, and cilia

(2011) J. B. Wallingford et al.   GENES & DEVELOPMENT

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

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness

(2011) Lisa M. Baye et al.   HUMAN MOLECULAR GENETICS

Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros

(2011) Céline Burcklé et al.   HUMAN MOLECULAR GENETICS

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

Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1

(2011) C. A. M. Lopes et al.   JOURNAL OF CELL SCIENCE

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

Complex interactions between genes controlling trafficking in primary cilia

(2011) Polloneal Jymmiel R Ocbina et al.   NATURE GENETICS

Ciliopathies

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

Ciliopathies: an expanding disease spectrum

(2011) Aoife M. Waters et al.   PEDIATRIC NEPHROLOGY

Centrosomes and cilia in human disease

(2011) Mónica Bettencourt-Dias et al.   TRENDS IN GENETICS

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

(2011) Seongjin Seo et al.   PLoS Genetics

Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms

(2011) H. Patil et al.   Biology Open

Temporal Relationship between Primary and Motile Ciliogenesis in Airway Epithelial Cells

(2010) Raksha Jain et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

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

Neuronal ciliary signaling in homeostasis and disease

(2010) Jill A. Green et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Ciliary Trafficking: CEP290 Guards a Gated Community

(2010) Ewelina Betleja et al.   CURRENT BIOLOGY

Ofd1 is required in limb bud patterning and endochondral bone development

(2010) Sabrina Bimonte et al.   DEVELOPMENTAL BIOLOGY

CEP290, a gene with many faces: mutation overview and presentation of CEP290base

(2010) Frauke Coppieters et al.   HUMAN MUTATION

Polycystin-1: Function as a mechanosensor

(2010) Georgia Dalagiorgou et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & 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

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

The primary cilium: a signalling centre during vertebrate development

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

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms

(2010) Cecilia Gascue et al.   PEDIATRIC NEPHROLOGY

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

The primary cilium coordinates early cardiogenesis and hedgehog signaling in cardiomyocyte differentiation

(2009) C. A. Clement et al.   JOURNAL OF CELL SCIENCE

Nephronophthisis: Disease Mechanisms of a Ciliopathy

(2009) F. Hildebrandt et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

(2009) Hemant Khanna 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

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

A Cilium Is Not a Cilium Is Not a Cilium: Signaling Contributes to Ciliary Morphological Diversity

(2008) Jeremy F. Reiter   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

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

Leber congenital amaurosis: Genes, proteins and disease mechanisms

(2008) Anneke I. den Hollander et al.   PROGRESS IN RETINAL AND EYE RESEARCH