(Q42119219)

16 October 2017

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations (English)

1 reference

Leber congenital amaurosis

16 October 2017

0 references

photoreceptor protein

0 references

1 reference

Samuel G Jacobson

1

0 references

Edwin M. Stone

object named as

Edwin M Stone

series ordinal

8

0 references

Elise Héon

series ordinal

7

object named as

Elise Heon

1 reference

16 October 2017

2

Artur V Cideciyan

1 reference

16 October 2017

4

Alexander Sumaroka

1 reference

16 October 2017

6

Sharon B Schwartz

1 reference

16 October 2017

Tomas S Aleman

3

1 reference

16 October 2017

Elizabeth A M Windsor

series ordinal

5

1 reference

16 October 2017

language of work or name

English

0 references

publication date

6 June 2008

1 reference

Investigative Ophthalmology Visual Science

16 October 2017

1 reference

16 October 2017

49

1 reference

16 October 2017

10

1 reference

16 October 2017

4573-4577

1 reference

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

16 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

Genetic modifiers of retinal degeneration in the rd3 mouse

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

Rpe65-/- and Lrat-/- mice: comparable models of leber congenital amaurosis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

Human cone photoreceptor dependence on RPE65 isomerase

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

Why photoreceptors die (and why they don't).

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

RPE65 is the isomerohydrolase in the retinoid visual cycle

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

Lifespan and mitochondrial control of neurodegeneration

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

Human photoreceptor topography

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

Preliminary results of gene therapy for retinal degeneration.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

Effect of Rpe65 knockout on accumulation of lipofuscin fluorophores in the retinal pigment epithelium.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

Gene therapy restores vision in a canine model of childhood blindness

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

17 August 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

3 November 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731624

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

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18539930

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18539930

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

9-cis Retinal increased in retina of RPE65 knockout mice with decrease in coat pigmentation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18539930

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1167/IOVS.08-2121

1 reference

16 October 2017

1 reference

16 October 2017

PubMed publication ID

18539930

1 reference