Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). (Q28114957)

19 December 2017

review article

1 reference

title

Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). (English)

1 reference

19 December 2017

1 reference

2

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19 December 2017

author name string

Carlos Murga-Zamalloa

series ordinal

1

1 reference

19 December 2017

language of work or name

English

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publication date

1 January 2010

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19 December 2017

Advances in Experimental Medicine and Biology

published in

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19 December 2017

volume

664

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19 December 2017

page(s)

105-114

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19 December 2017

The Ciliopathies: An Emerging Class of Human Genetic Disorders

cites work

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20 March 2017

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Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia

20 March 2017

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A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

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The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

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

20 March 2017

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

20 March 2017

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

20 March 2017

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Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

20 March 2017

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Jouberin localizes to collecting ducts and interacts with nephrocystin-1

20 March 2017

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A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis

20 March 2017

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

20 March 2017

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Null RPGRIP1 alleles in patients with Leber congenital amaurosis

20 March 2017

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RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

20 March 2017

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Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

20 March 2017

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A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

20 March 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2905641

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

20 March 2017

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A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)

20 March 2017

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Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

20 March 2017

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Rhodopsin C terminus, the site of mutations causing retinal disease, regulates trafficking by binding to ADP-ribosylation factor 4 (ARF4).

20 March 2017

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Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

20 March 2017

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Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

20 March 2017

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RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa

20 March 2017

1 reference

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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

20 March 2017

1 reference

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A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

20 March 2017

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Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

20 March 2017

1 reference

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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2905641

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

20 March 2017

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Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse

20 March 2017

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Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium

20 March 2017

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Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

20 March 2017

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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

20 March 2017

1 reference

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Centrioles and the formation of rudimentary cilia by fibroblasts and smooth muscle cells

7 April 2017

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RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction

7 April 2017

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

29 September 2017

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Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

29 September 2017

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Modeling ciliopathies: Primary cilia in development and disease

29 September 2017

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Nephronophthisis: disease mechanisms of a ciliopathy

29 September 2017

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

29 September 2017

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Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

29 September 2017

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RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

29 September 2017

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Direct binding of visual arrestin to microtubules determines the differential subcellular localization of its splice variants in rod photoreceptors.

29 September 2017

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Photoreceptor intersegmental transport and retinal degeneration: a conserved pathway common to motile and sensory cilia.

29 September 2017

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The vertebrate primary cilium is a sensory organelle

29 September 2017

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Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA.

29 September 2017

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The renewal of protein in retinal rods and cones

29 September 2017

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Clinical findings and common symptoms in retinitis pigmentosa

29 September 2017

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X-linked retinitis pigmentosa

29 September 2017

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29 September 2017

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Assembly of primary cilia

2 June 2018

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2 June 2018

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A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy

2 June 2018

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2 June 2018

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RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

2 June 2018

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A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo

2 June 2018

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The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein

2 June 2018

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Dominant, gain-of-function mutant produced by truncation of RPGR.

2 June 2018

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RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa

2 June 2018

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Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families

2 June 2018

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RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

2 June 2018

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The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis

2 June 2018

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Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3

2 June 2018

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Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species

2 June 2018

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Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration

2 June 2018

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The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

2 June 2018

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X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

2 June 2018

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Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C

2 June 2018

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Structural basis for guanine nucleotide exchange on Ran by the regulator of chromosome condensation (RCC1)

2 June 2018

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Identification of a novel protein interacting with RPGR.

2 June 2018

1 reference

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Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors

2 June 2018

1 reference

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Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Intraflagellar transport: the eyes have it

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Positional cloning of the gene for X-linked retinitis pigmentosa 2

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Inherited retinal degeneration: exceptional genetic and clinical heterogeneity

2 June 2018

1 reference

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A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3.

2 June 2018

1 reference

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X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Abnormal axonemes in X-linked retinitis pigmentosa

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Clinical investigation of retinitis pigmentosa

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

RPGR mutation analysis and disease: an update.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Increasing evidence for syndromic phenotypes associated with RPGR mutations

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Photoreceptor cGMP Phosphodiesterase δ Subunit (PDEδ) Functions as a Prenyl-binding Protein

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

X-linked recessive atrophic macular degeneration from RPGR mutation

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Mutations in the RPGR gene cause X-linked cone dystrophy

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Transport to the photoreceptor outer segment by myosin VIIa and kinesin II.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464500

Evidence for a new locus for X-linked retinitis pigmentosa (RP23)

27 November 2018

1 reference

12 December 2020

Passage of newly formed protein through the connecting cilium of retinal rods in the frog

1 reference

12 December 2020

The renewal of diffusely distributed protein in the outer segments of rods and cones

1 reference

12 December 2020

Retinitis pigmentosa. Genetic percentages

1 reference

12 December 2020

X-linked recessive retinitis pigmentosa. Clinical characteristics of carriers

1 reference

12 December 2020

X-linked retinitis pigmentosa. Profile of clinical findings

1 reference

12 December 2020

A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities

1 reference

12 December 2020

A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa

1 reference

12 December 2020

10.1007/978-1-4419-1399-9_13

Identifiers

DOI

1 reference

19 December 2017

OpenCitations bibliographic resource ID

4067551

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

19 December 2017

PubMed publication ID

20238008

1 reference

19 December 2017