(Q37585291)

21 August 2017

1 reference

title

RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa? (English)

1 reference

21 August 2017

2

Alfred Wittinghofer

1 reference

21 August 2017

Stefan Veltel

1

1 reference

PubMed ID

19702441

21 August 2017

language of work or name

English

0 references

publication date

1 October 2009

1 reference

Expert Opinion on Therapeutic Targets

21 August 2017

1 reference

21 August 2017

13

1 reference

21 August 2017

10

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21 August 2017

1239-1251

1 reference

Retinitis pigmentosa: understanding the clinical presentation, mechanisms and treatment options

21 August 2017

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Retinitis pigmentosa: genes, proteins and prospects

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Expression of primary cilia in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

The roles of cilia in developmental disorders and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

The retinal ciliopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Deletion of PrBP/delta impedes transport of GRK1 and PDE6 catalytic subunits to photoreceptor outer segments.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

The delta subunit of rod specific cyclic GMP phosphodiesterase, PDE delta, interacts with the Arf-like protein Arl3 in a GTP specific manner

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Specificity of Arl2/Arl3 signaling is mediated by a ternary Arl3-effector-GAP complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Identification of a novel protein interacting with RPGR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

The RCC1 superfamily: from genes, to function, to disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Crystal structure of the actin binding domain of the cyclase-associated protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

The retinitis pigmentosa-mutated RP2 protein exhibits exonuclease activity and translocates to the nucleus in response to DNA damage.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Tubulin Folding Cofactors as GTPase-activating Proteins: GTP HYDROLYSIS AND THE ASSEMBLY OF THE / -TUBULIN HETERODIMER

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

The guanine nucleotide-binding switch in three dimensions

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Chromosome instability mutants of Saccharomyces cerevisiae that are defective in microtubule-mediated processes

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Arl2 and Arl3 regulate different microtubule-dependent processes

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

The complex of Arl2-GTP and PDE delta: from structure to function

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

ADP-ribosylation factors (ARFs) and ARF-like 1 (ARL1) have both specific and shared effectors: characterizing ARL1-binding proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Photoreceptor synaptic protein HRG4 (UNC119) interacts with ARL2 via a putative conserved domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Novel frameshift mutations in the RP2 gene and polymorphic variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Prospects for retinal gene replacement therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Ocular gene therapy: current progress and future prospects

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Versatility of AAV vectors for retinal gene transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

The role of RPE65 in inherited retinal diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Effect of gene therapy on visual function in Leber's congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Safety and efficacy of gene transfer for Leber's congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Retinal stem cells in the adult mammalian eye

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Retinal repair by transplantation of photoreceptor precursors

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Efficient generation of retinal progenitor cells from human embryonic stem cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Transplantation of human embryonic stem cell-derived photoreceptors restores some visual function in Crx-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Toward the generation of rod and cone photoreceptors from mouse, monkey and human embryonic stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

RNA interference-mediated suppression and replacement of human rhodopsin in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

Identification and characterization of a novel RPGR isoform in human retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728220903225016

10.1517/14728220903225016

21 January 2018

Identifiers

DOI

1 reference

21 August 2017

1 reference

PubMed ID

19702441