The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking (Q35225255)

7 August 2017

title

The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking (English)

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RAB8A, member RAS oncogene family

7 August 2017

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photoreceptor protein

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1 reference

Ruxandra Bachmann-Gagescu

GOA release 2020-03-11

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1 reference

1

object named as

Ruxandra Bachmann-Gagescu

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Cecilia B. Moens

object named as

Cecilia B Moens

6

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author name string

Ian G Phelps

2

1 reference

7 August 2017

George Stearns

3

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7 August 2017

Brian A Link

4

1 reference

7 August 2017

Susan E Brockerhoff

5

1 reference

7 August 2017

Dan Doherty

7

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7 August 2017

publication date

4 August 2011

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7 August 2017

published in

Human Molecular Genetics

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7 August 2017

volume

20

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7 August 2017

issue

20

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7 August 2017

page(s)

4041-4055

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Planar polarity pathway and Nance-Horan syndrome-like 1b have essential cell-autonomous functions in neuronal migration.

7 August 2017

cites work

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MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

13 July 2018

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IFT20 is required for opsin trafficking and photoreceptor outer segment development

13 July 2018

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Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome

13 July 2018

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

13 July 2018

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CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content.

13 July 2018

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Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

13 July 2018

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13 July 2018

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Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1

13 July 2018

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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

13 July 2018

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Analysis of a zebrafish dync1h1 mutant reveals multiple functions for cytoplasmic dynein 1 during retinal photoreceptor development

13 July 2018

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The primary cilium: a signalling centre during vertebrate development

13 July 2018

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Intraflagellar transport molecules in ciliary and nonciliary cells of the retina

13 July 2018

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Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans

13 July 2018

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AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

13 July 2018

1 reference

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Wild-type cone photoreceptors persist despite neighboring mutant cone degeneration

13 July 2018

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Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation

13 July 2018

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Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion

13 July 2018

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Ciliary biology: understanding the cellular and genetic basis of human ciliopathies

13 July 2018

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13 July 2018

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OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

13 July 2018

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Joubert syndrome: insights into brain development, cilium biology, and complex disease

13 July 2018

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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

13 July 2018

1 reference

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Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking

13 July 2018

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What drives cell morphogenesis: a look inside the vertebrate photoreceptor

13 July 2018

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The nonmotile ciliopathies

13 July 2018

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The vertebrate primary cilium in development, homeostasis, and disease

13 July 2018

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Photoreceptor IFT complexes containing chaperones, guanylyl cyclase 1 and rhodopsin.

13 July 2018

1 reference

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Tbx2b is required for ultraviolet photoreceptor cell specification during zebrafish retinal development

13 July 2018

1 reference

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Early defects in photoreceptor outer segment morphogenesis in zebrafish ift57, ift88 and ift172 Intraflagellar Transport mutants

13 July 2018

1 reference

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CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

13 July 2018

1 reference

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CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177654

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177654

Restoration of renal function in zebrafish models of ciliopathies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177654

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177654

The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177654

Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177654

Identification of genetic and chemical modulators of zebrafish mechanosensory hair cell death

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177654

Light-dependent compartmentalization of transducin in rod photoreceptors.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177654

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177654

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177654

Vesicular glutamate transporter 3 is required for synaptic transmission in zebrafish hair cells.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177654

Gateway compatible vectors for analysis of gene function in the zebrafish.

13 July 2018

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The Tol2kit: a multisite gateway-based construction kit for Tol2 transposon transgenesis constructs

13 July 2018

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Functional dissection of Rab GTPases involved in primary cilium formation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177654

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177654

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

13 July 2018

1 reference

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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

13 July 2018

1 reference

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Ftm is a novel basal body protein of cilia involved in Shh signalling

13 July 2018

1 reference

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The graded response to Sonic Hedgehog depends on cilia architecture

13 July 2018

1 reference

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The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

13 July 2018

1 reference

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Membrane binding and subcellular targeting of C2 domains

13 July 2018

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The primary cilium as the cell's antenna: signaling at a sensory organelle

13 July 2018

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The Ciliopathies: An Emerging Class of Human Genetic Disorders

13 July 2018

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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177654

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

13 July 2018

1 reference

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Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

13 July 2018

1 reference

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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

13 July 2018

1 reference

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Genetics of photoreceptor development and function in zebrafish

13 July 2018

1 reference

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Genetic analysis of photoreceptor cell development in the zebrafish retina

13 July 2018

1 reference

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Mutant rab8 Impairs docking and fusion of rhodopsin-bearing post-Golgi membranes and causes cell death of transgenic Xenopus rods

13 July 2018

1 reference

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Investigations of photoreceptor synaptic transmission and light adaptation in the zebrafish visual mutant nrc.

13 July 2018

1 reference

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Cloning and characterization of six zebrafish photoreceptor opsin cDNAs and immunolocalization of their corresponding proteins

13 July 2018

1 reference

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Early development of the zebrafish pronephros and analysis of mutations affecting pronephric function.

13 July 2018

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"Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation

13 July 2018

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A behavioral screen for isolating zebrafish mutants with visual system defects

13 July 2018

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Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation

13 July 2018

1 reference

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Vangl2 directs the posterior tilting and asymmetric localization of motile primary cilia.

13 July 2018

1 reference

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Glutamatergic mechanisms in the outer retina of larval zebrafish: analysis of electroretinogram b- and d-waves using a novel preparation

26 September 2018

1 reference

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Measuring the optokinetic response of zebrafish larvae.

26 September 2018

1 reference

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NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.

26 September 2018

1 reference

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A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney

26 September 2018

1 reference

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Intraflagellar transport genes are essential for differentiation and survival of vertebrate sensory neurons.

26 September 2018

1 reference

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gbx2 Homeobox gene is required for the maintenance of the isthmic region in the zebrafish embryonic brain.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177654

Light stimulates a transducin-independent increase of cytoplasmic Ca2 and suppression of current in cones from the zebrafish mutant nof.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177654

rab8 in retinal photoreceptors may participate in rhodopsin transport and in rod outer segment disk morphogenesis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177654

Early onset of phenotype and cell patterning in the embryonic zebrafish retina.

26 September 2018

1 reference

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Evidence against the role of rhodopsin in rod outer segment binding to RPE cells

26 September 2018

1 reference

12 December 2020

Biosynthesis and vectorial transport of opsin on vesicles in retinal rod photoreceptors

1 reference

12 December 2020

Vesicular transport of newly synthesized opsin from the Golgi apparatus toward the rod outer segment. Ultrastructural immunocytochemical and autoradiographic evidence in Xenopus retinas

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12 December 2020

Early retinal development in the zebrafish, Danio rerio: light and electron microscopic analyses

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12 December 2020

Identifiers

DOI

10.1093/HMG/DDR332

1 reference

7 August 2017

1 reference

7 August 2017

1 reference