Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis (Q34085940)

30 July 2017

title

Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis (English)

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30 July 2017

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photoreceptor protein

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1 reference

Basil S Pawlyk

1

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30 July 2017

Oleg V Bulgakov

2

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30 July 2017

Xiaoqing Liu

3

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30 July 2017

Xiaoyun Xu

4

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30 July 2017

Michael Adamian

5

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30 July 2017

Xun Sun

6

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30 July 2017

Shahrokh C Khani

7

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30 July 2017

Eliot L Berson

8

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30 July 2017

Michael A Sandberg

9

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30 July 2017

Tiansen Li

10

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30 July 2017

publication date

1 August 2010

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30 July 2017

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30 July 2017

volume

21

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30 July 2017

issue

8

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30 July 2017

page(s)

993-1004

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Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations

30 July 2017

cites work

1 reference

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RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis

5 July 2018

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Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors

5 July 2018

1 reference

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Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa

5 July 2018

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Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial

5 July 2018

1 reference

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Leber congenital amaurosis: genes, proteins and disease mechanisms

5 July 2018

1 reference

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

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

5 July 2018

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Novel adeno-associated virus serotypes efficiently transduce murine photoreceptors

5 July 2018

1 reference

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RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization

5 July 2018

1 reference

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An overview of Leber congenital amaurosis: a model to understand human retinal development

5 July 2018

1 reference

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Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

5 July 2018

1 reference

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

Rootletin, a novel coiled-coil protein, is a structural component of the ciliary rootlet

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

Virus-mediated transduction of murine retina with adeno-associated virus: effects of viral capsid and genome size.

5 July 2018

1 reference

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Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

Aberrant mobility phenomena of the DNA repair protein XPA

5 July 2018

1 reference

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Null RPGRIP1 alleles in patients with Leber congenital amaurosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

Identification of a novel protein interacting with RPGR.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

Production of high-titer recombinant adeno-associated virus vectors in the absence of helper adenovirus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

Efficient photoreceptor-targeted gene expression in vivo by recombinant adeno-associated virus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

Retinitis pigmentosa. The Friedenwald Lecture

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

A 240 kDa protein represents the complete beta subunit of the cyclic nucleotide-gated channel from rod photoreceptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

Assessment of ocular transduction using single-stranded and self-complementary recombinant adeno-associated virus serotype 2/8.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

AAV-mediated expression targeting of rod and cone photoreceptors with a human rhodopsin kinase promoter

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

In utero gene therapy rescues vision in a murine model of congenital blindness

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

A short, highly active photoreceptor-specific enhancer/promoter region upstream of the human rhodopsin kinase gene.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

Gene therapy restores vision in a canine model of childhood blindness

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

A one-hit model of cell death in inherited neuronal degenerations

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928706

The natural history of Leber's congenital amaurosis. Age-related findings in 35 patients

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20384479

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Modification of acidic residues normalizes sodium dodecyl sulfate-polyacrylamide gel electrophoresis of caldesmon and other proteins that migrate anomalously

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20384479

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Vision in Leber congenital amaurosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20384479

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1089/HUM.2009.218

1 reference

30 July 2017

1 reference

30 July 2017

1 reference