Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success (Q33771032)

29 July 2017

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success (English)

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29 July 2017

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photoreceptor protein

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Steven J Pittler

9

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Samuel G. Jacobson

object named as

Samuel G Jacobson

1

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Edwin M. Stone

object named as

Edwin M Stone

13

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Krzysztof Palczewski

12

object named as

Krzysztof Palczewski

1 reference

29 July 2017

8

Elise Heon

1 reference

29 July 2017

3

Artur V Cideciyan

1 reference

29 July 2017

4

Alexander Sumaroka

1 reference

29 July 2017

5

Sharon B Schwartz

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29 July 2017

14

Jean Bennett

1 reference

29 July 2017

10

Ann H Milam

1 reference

29 July 2017

Tomas S Aleman

2

1 reference

29 July 2017

Elizabeth A M Windsor

6

1 reference

29 July 2017

Elias I Traboulsi

7

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29 July 2017

Albert M Maguire

11

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29 July 2017

language of work or name

English

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publication date

18 April 2005

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29 July 2017

6

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Proceedings of the National Academy of Sciences of the United States of America

inferred from page(s)

published in

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29 July 2017

102

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29 July 2017

6177-6182

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29 July 2017

17

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Downregulation of cone-specific gene expression and degeneration of cone photoreceptors in the Rpe65-/- mouse at early ages

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

The specific binding of retinoic acid to RPE65 and approaches to the treatment of macular degeneration

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

A palmitoylation switch mechanism in the regulation of the visual cycle

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Isorhodopsin rather than rhodopsin mediates rod function in RPE65 knock-out mice

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Advances in the development of visual prostheses

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Evaluation of the role of the retinal G protein-coupled receptor (RGR) in the vertebrate retina in vivo

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Isomerization and oxidation of vitamin a in cone-dominant retinas: a novel pathway for visual-pigment regeneration in daylight

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Recovery of visual functions in a mouse model of Leber congenital amaurosis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Clinical course and visual function in a family with mutations in the RPE65 gene

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Retinal dystrophies caused by mutations in RPE65: assessment of visual functions

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness)

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Mutations in RPE65 cause Leber's congenital amaurosis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Variability in rate of cone degeneration in the retinal degeneration (rd/rd) mouse

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Genetic regulation of light damage to photoreceptors.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Human photoreceptor topography

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

4 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500646102

Gene therapy restores vision in a canine model of childhood blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500646102

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500646102

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500646102

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500646102

Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500646102

Augmented rod bipolar cell function in partial receptor loss: an ERG study in P23H rhodopsin transgenic and aging normal rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500646102

Correlation of regenerable opsin with rod ERG signal in Rpe65-/- mice during development and aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500646102

Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500646102

New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500646102

Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500646102

Identification of the RPE65 protein in mammalian cone photoreceptors.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

P23H rhodopsin transgenic rat: correlation of retinal function with histopathology.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087926

Relation of optical coherence tomography to microanatomy in normal and rd chickens

30 October 2018

1 reference

12 December 2020

Early-onset severe rod-cone dystrophy in young children with RPE65 mutations

1 reference

12 December 2020

The potential usefulness to research of retina obtained by biopsy

1 reference

12 December 2020

Histopathology of the human retina in retinitis pigmentosa

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0500646102

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29 July 2017

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29 July 2017

1 reference