Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

(2012) W. A. Beltran et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2011) Liyun Sang et al.   CELL

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

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

Gene Therapeutic Approach Using Mutation-adapted U1 snRNA to Correct a RPGR Splice Defect in Patient-derived Cells

(2011) Esther Glaus et al.   MOLECULAR THERAPY

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

UNC119 is required for G protein trafficking in sensory neurons

(2011) Houbin Zhang et al.   NATURE NEUROSCIENCE

Ciliopathies

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

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

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

Rab GEFs and GAPs

(2010) Francis Barr et al.   CURRENT OPINION IN CELL BIOLOGY

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

Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney

(2010) Suresh B. Patil et al.   KIDNEY INTERNATIONAL

The Vertebrate Primary Cilium in Development, Homeostasis, and Disease

(2009) Jantje M. Gerdes et al.   CELL

The Primary Cilium as a Complex Signaling Center

(2009) Nicolas F. Berbari et al.   CURRENT BIOLOGY

Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport processes

(2009) Xinhua Shu et al.   HUMAN MOLECULAR GENETICS

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development

(2009) Amiya K. Ghosh 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

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

Characterization of mouse IFT complex B

(2009) John A. Follit et al.   CELL MOTILITY AND THE CYTOSKELETON

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

Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors

(2008) Christine Insinna et al.   DEVELOPMENTAL DYNAMICS

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

Trafficking of Membrane-Associated Proteins to Cone Photoreceptor Outer Segments Requires the Chromophore 11-cis-Retinal

(2008) H. Zhang et al.   JOURNAL OF NEUROSCIENCE

elipsa is an early determinant of ciliogenesis that links the IFT particle to membrane-associated small GTPase Rab8

(2008) Yoshihiro Omori et al.   NATURE CELL BIOLOGY

Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: Insights into X-linked Retinitis Pigmentosa and associated ciliopathies

(2007) Shirley He et al.   VISION RESEARCH