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Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
Liyun Sang et al.
CELL (2011)
Rab6, Rab8, and MICAL3 Cooperate in Controlling Docking and Fusion of Exocytotic Carriers
Ilya Grigoriev et al.
CURRENT BIOLOGY (2011)
An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium
Kevin J. Wright et al.
GENES & DEVELOPMENT (2011)
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
Christina F. Chakarova et al.
HUMAN MOLECULAR GENETICS (2011)
The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking
Ruxandra Bachmann-Gagescu et al.
HUMAN MOLECULAR GENETICS (2011)
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis
Xia Wang et al.
HUMAN MUTATION (2011)
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice
Karsten Boldt et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Arl2-GTP and Arl3-GTP regulate a GDI-like transport system for farnesylated cargo
Shehab A. Ismail et al.
NATURE CHEMICAL BIOLOGY (2011)
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
Francesc R. Garcia-Gonzalo et al.
NATURE GENETICS (2011)
Complex interactions between genes controlling trafficking in primary cilia
Polloneal Jymmiel R. Ocbina et al.
NATURE GENETICS (2011)
UNC119 is required for G protein trafficking in sensory neurons
Houbin Zhang et al.
NATURE NEUROSCIENCE (2011)
Ciliogenesis: building the cell's antenna
Hiroaki Ishikawa et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2011)
A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened
Seongjin Seo et al.
PLOS GENETICS (2011)
Screening of SPATA7 in Patients with Leber Congenital Amaurosis and Severe Childhood-Onset Retinal Dystrophy Reveals Disease-Causing Mutations
Donna S. Mackay et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy
Masakazu Akahori et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa
S. Amer Riazuddin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Trafficking to the Ciliary Membrane: How to Get Across the Periciliary Diffusion Barrier?
Maxence V. Nachury et al.
ANNUAL REVIEW OF CELL AND DEVELOPMENTAL BIOLOGY, VOL 26 (2010)
The Conserved Bardet-Biedl Syndrome Proteins Assemble a Coat that Traffics Membrane Proteins to Cilia
Hua Jin et al.
CELL (2010)
Light-dependent translocation of arrestin in rod photoreceptors is signaled through a phospholipase C cascade and requires ATP
Wilda Orisme et al.
CELLULAR SIGNALLING (2010)
Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles
Veena Singla et al.
DEVELOPMENTAL CELL (2010)
Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration
Carlos A. Murga-Zamalloa et al.
HUMAN MOLECULAR GENETICS (2010)
Intraflagellar transport molecules in ciliary and nonciliary cells of the retina
Tina Sedmak et al.
JOURNAL OF CELL BIOLOGY (2010)
Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies
Anneke I. den Hollander et al.
JOURNAL OF CLINICAL INVESTIGATION (2010)
Diffusion of a soluble protein, photoactivatable GFP, through a sensory cilium
Peter D. Calvert et al.
JOURNAL OF GENERAL PHYSIOLOGY (2010)
Retinal Degeneration and Failure of Photoreceptor Outer Segment Formation in Mice with Targeted Deletion of the Joubert Syndrome Gene, Ahi1
Jennifer E. Westfall et al.
JOURNAL OF NEUROSCIENCE (2010)
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Enza Maria Valente et al.
NATURE GENETICS (2010)
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait
Alan F. Wright et al.
NATURE REVIEWS GENETICS (2010)
The primary cilium: a signalling centre during vertebrate development
Sarah C. Goetz et al.
NATURE REVIEWS GENETICS (2010)
Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina
Anand Swaroop et al.
NATURE REVIEWS NEUROSCIENCE (2010)
Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform
Pamela R. Pretorius et al.
PLOS GENETICS (2010)
Cone versus Rod Disease in a Mutant Rpgr Mouse Caused by Different Genetic Backgrounds
Sandra Brunner et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
Cranioectodermal Dysplasia: A Probable Ciliopathy
Anastasia E. Konstantinidou et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4
Jana Mazelova et al.
EMBO JOURNAL (2009)
RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis
Jungyeon Won et al.
HUMAN MOLECULAR GENETICS (2009)
Leber congenital amaurosis: Clinical correlations with genotypes, gene therapy trials update, and future directions
Daniel C. Chung et al.
JOURNAL OF AAPOS (2009)
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
Jana Mazelova et al.
JOURNAL OF CELL SCIENCE (2009)
Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa
Tetsuji Yamashita et al.
JOURNAL OF NEUROSCIENCE (2009)
Ankyrin-G Promotes Cyclic Nucleotide-Gated Channel Transport to Rod Photoreceptor Sensory Cilia
Krishnakumar Kizhatil et al.
SCIENCE (2009)
Photoreceptor IFT Complexes Containing Chaperones, Guanylyl Cyclase 1 and Rhodopsin
Reshma Bhowmick et al.
TRAFFIC (2009)
Early defects in photoreceptor outer segment morphogenesis in zebrafish ift57, ift88 and ift172 Intraflagellar Transport mutants
Sujita Sukumaran et al.
VISION RESEARCH (2009)
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
Vincent Cantagrel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Leber congenital amaurosis: Genes, proteins and disease mechanisms
Anneke I. den Hollander et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2008)
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells
Tina Maerker et al.
HUMAN MOLECULAR GENETICS (2008)
Alstrom syndrome
Jan D. Marshall et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Mechanisms of disease - When cilia go bad: cilia defects and ciliopathies
Manfred Fliegauf et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2007)
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy
Christina F. Chakarova et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
SARA-regulated vesicular targeting underlies formation of the Light-Sensing organelle in mammalian rods
Jen-Zen Chuang et al.
CELL (2007)
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
Anneke I. den Hollander et al.
NATURE GENETICS (2007)
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
Maxence V. Nachury et al.
CELL (2007)
Deletion of PrBP/δ impedes transport of GRK1 and PDE6 catalytic subunits to photoreceptor outer segments
H. Zhang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
RPGR mutation analysis and disease: An update
Xinhua Shu et al.
HUMAN MUTATION (2007)
Cone rod dystrophies
Christian P. Hamel
ORPHANET JOURNAL OF RARE DISEASES (2007)
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation
Helen R. Dawe et al.
HUMAN MOLECULAR GENETICS (2007)
Retinitis pigmentosa
Christian Hamel
ORPHANET JOURNAL OF RARE DISEASES (2006)
Molecular basis of human Usher syndrome:: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
Jan Reiners et al.
EXPERIMENTAL EYE RESEARCH (2006)
Retinitis pigmentosa and renal failure in a patient with mutations in INVS
John F. O'Toole et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2006)
Ciliary targeting of olfactory CNG channels requires the CNGB1b subunit and the kinesin-2 motor protein, KIF17
Paul M. Jenkins et al.
CURRENT BIOLOGY (2006)
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
John A. Sayer et al.
NATURE GENETICS (2006)
MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34
DJ Hampshire et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2006)
Homozygosity mapping with SNP arrays identifies TRIM32 an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)
AP Chiang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Retention of function without normal disc morphogenesis occurs in cone but not rod photoreceptors
R Farjo et al.
JOURNAL OF CELL BIOLOGY (2006)
RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
A Moore et al.
JOURNAL OF MEDICAL GENETICS (2006)
Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif
L Geng et al.
JOURNAL OF CELL SCIENCE (2006)
Genetics of variation in human color vision and the retinal cone mosaic
Samir S. Deeb
CURRENT OPINION IN GENETICS & DEVELOPMENT (2006)
Vertebrate Smoothened functions at the primary cilium
KC Corbit et al.
NATURE (2005)
Alms1-disrupted mice recapitulate human Alstrom syndrome
GB Collin et al.
HUMAN MOLECULAR GENETICS (2005)
Recoverin undergoes light-dependent intracellular translocation in rod photoreceptors
KJ Strissel et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
The retinal pigment epithelium in visual function
O Strauss
PHYSIOLOGICAL REVIEWS (2005)
Recoverin improves rod-mediated vision by enhancing signal transmission in the mouse retina
AP Sampath et al.
NEURON (2005)
Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes
T Hearn et al.
DIABETES (2005)
New Alstrom syndrome phenotypes based on the evaluation of 182 cases
JD Marshall et al.
ARCHIVES OF INTERNAL MEDICINE (2005)
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
EA Otto et al.
NATURE GENETICS (2005)
Phosducin facilitates light-driven transducin translocation in rod photoreceptors - Evidence from the phosducin knockout mouse
M Sokolov et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
An outer segment localization signal at the C terminus of the photoreceptor-specific retinol dehydrogenase
WQ Luo et al.
JOURNAL OF NEUROSCIENCE (2004)
The retinitis pigmentosa 1 protein is a photoreceptor microtubule- associated protein
Q Liu et al.
JOURNAL OF NEUROSCIENCE (2004)
An overview of Leber congenital amaurosis: A model to understand human retinal development
RK Koenekoop
SURVEY OF OPHTHALMOLOGY (2004)
Bi-directional protein transport between the ER and Golgi
MCS Lee et al.
ANNUAL REVIEW OF CELL AND DEVELOPMENTAL BIOLOGY (2004)
Parallel processing in the mammalian retina
H Wässle
NATURE REVIEWS NEUROSCIENCE (2004)
RP1 is required for the correct stacking of outer segment discs
Q Liu et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)
The intraflagellar transport machinery of Chlamydomonas reinhardtii
DG Cole
TRAFFIC (2003)
Rootletin, a novel coiled-coil protein, is a structural component of the ciliary rootlet
J Yang et al.
JOURNAL OF CELL BIOLOGY (2002)
Intraflagellar transport
JL Rosenbaum et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2002)
X-linked recessive atrophic macular degeneration from RPGR mutation
R Ayyagari et al.
GENOMICS (2002)
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome
T Hearn et al.
NATURE GENETICS (2002)
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome
GB Collin et al.
NATURE GENETICS (2002)
Transport to the photoreceptor outer segment by myosin VIIa and kinesin II
DS Williams
VISION RESEARCH (2002)
Identification of the gene for oral-facial-digital type I syndrome
MI Ferrante et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Identification of an outer segment targeting signal in the COOH terminus of rhodopsin using transgenic Xenopus laevis
BM Tam et al.
JOURNAL OF CELL BIOLOGY (2000)
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa
R Vervoort et al.
NATURE GENETICS (2000)
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