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

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

(2013) Yan Zhang et al.   HUMAN MOLECULAR GENETICS

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

(2012) Sarah C. Goetz et al.   CELL

A novel membrane-dependent on/off switch mechanism of talin FERM domain at sites of cell adhesion

(2012) Xianqiang Song et al.   CELL RESEARCH

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

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

Arl13b regulates endocytic recycling traffic

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

Ciliary diffusion barrier: The gatekeeper for the primary cilium compartment

(2011) Qicong Hu et al.   Cytoskeleton

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

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

Regulating the transition from centriole to basal body

(2011) Tetsuo Kobayashi et al.   JOURNAL OF CELL BIOLOGY

Characterization of a Myosin VII MyTH/FERM Domain

(2011) Rebecca J. Moen et al.   JOURNAL OF MOLECULAR BIOLOGY

Ciliopathies: an expanding disease spectrum

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

Focus on Molecules: Centrosomal protein 290 (CEP290)

(2010) Phillip Moradi et al.   EXPERIMENTAL EYE RESEARCH

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

(2010) Frauke Coppieters et al.   HUMAN MUTATION

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

SCFCyclin F controls centrosome homeostasis and mitotic fidelity through CP110 degradation

(2010) Vincenzo D’Angiolella et al.   NATURE

Dual and opposing roles of primary cilia in medulloblastoma development

(2009) Young-Goo Han et al.   NATURE MEDICINE

Primary cilia can both mediate and suppress Hedgehog pathway–dependent tumorigenesis

(2009) Sunny Y Wong et al.   NATURE MEDICINE

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

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

Leber congenital amaurosis: Genes, proteins and disease mechanisms

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