(Q30480075)

11 August 2017

Human cone photoreceptor dependence on RPE65 isomerase (English)

1 reference

11 August 2017

photoreceptor protein

0 references

Samuel G Jacobson

1

0 references

Edwin M. Stone

object named as

Edwin M Stone

13

0 references

James Wilson

object named as

James M Wilson

11

0 references

Krzysztof Palczewski

14

object named as

Krzysztof Palczewski

1 reference

11 August 2017

4

Elise Heon

1 reference

11 August 2017

5

Marcin Golczak

1 reference

11 August 2017

3

Artur V Cideciyan

1 reference

11 August 2017

12

Gustavo D Aguirre

1 reference

11 August 2017

7

Alexander Sumaroka

1 reference

11 August 2017

8

Sharon B Schwartz

1 reference

11 August 2017

Tomas S Aleman

2

1 reference

11 August 2017

William A Beltran

6

1 reference

11 August 2017

Alejandro J Roman

9

1 reference

11 August 2017

Elizabeth A M Windsor

10

1 reference

11 August 2017

language of work or name

English

0 references

publication date

11 September 2007

1 reference

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

11 August 2017

1 reference

11 August 2017

104

1 reference

11 August 2017

38

1 reference

11 August 2017

15123-15128

1 reference

Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Gene therapy progress and prospects: the eye.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

G protein-coupled receptor rhodopsin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Anatomy and development of the macula: specialisation and the vulnerability to macular degeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Chicken retinas contain a retinoid isomerase activity that catalyzes the direct conversion of all-trans-retinol to 11-cis-retinol

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

RPE65 is the isomerohydrolase in the retinoid visual cycle

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Opsin activation of transduction in the rods of dark-reared Rpe65 knockout mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Dark adaptation and the retinoid cycle of vision

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

G proteins and phototransduction.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

The biochemistry of the visual cycle

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Confronting complexity: the interlink of phototransduction and retinoid metabolism in the vertebrate retina

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Recovery of cone receptor activity in the frog's isolated retina

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

SWS (blue) cone hypersensitivity in a newly identified retinal degeneration.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Human photoreceptor topography

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Photoreceptor survival-promoting activity in interphotoreceptor matrix preparations: characterization and partial purification

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Acuity-luminance and foveal increment threshold functions in retinitis pigmentosa

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

RPE65 is essential for the function of cone photoreceptors in NRL-deficient mice

20 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0706367104

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0706367104

Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0706367104

RPE65 gene delivery restores isomerohydrolase activity and prevents early cone loss in Rpe65-/- mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0706367104

Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0706367104

Postsurgical assessment and long-term safety of recombinant adeno-associated virus-mediated gene transfer into the retinas of dogs and primates

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0706367104

Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0706367104

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.0706367104

The locus of fixation and the foveal cone mosaic

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0706367104

Remodeling of the Human Retina in Choroideremia: Rab Escort Protein 1 (REP-1) Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0706367104

Differential Macular and Peripheral Expression of Bestrophin in Human Eyes and Its Implication for Best Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0706367104

Automated Light- and Dark- Adapted Perimetry for Evaluating Retinitis Pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0706367104

RPE65 surface epitopes, protein interactions, and expression in rod- and cone-dominant species.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

Identification of the RPE65 protein in mammalian cone photoreceptors.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986623

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

26 November 2018

1 reference

12 December 2020

Perceived and actual performance of daily tasks: relationship to visual function tests in individuals with retinitis pigmentosa

1 reference

12 December 2020

Regeneration of the green-rod pigment in the isolated frog retina

1 reference

12 December 2020

Visual acuity vs letter contrast sensitivity in retinitis pigmentosa

1 reference

12 December 2020

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

1 reference

12 December 2020

Preferential release of 11-cis-retinol from retinal pigment epithelial cells in the presence of cellular retinaldehyde-binding protein

1 reference

12 December 2020

Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity

1 reference

12 December 2020

Biological characterization of gene response in Rpe65-/- mouse model of Leber's congenital amaurosis during progression of the disease

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0706367104

1 reference

11 August 2017

0 references

1 reference

11 August 2017

1 reference