(Q37317693)

19 August 2017

Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations (English)

1 reference

Leber congenital amaurosis

19 August 2017

0 references

1 reference

Samuel G Jacobson

1

0 references

Edwin M. Stone

object named as

Edwin M Stone

9

0 references

Elise Héon

8

object named as

Elise Heon

1 reference

19 August 2017

3

Artur V Cideciyan

1 reference

19 August 2017

5

Alexander Sumaroka

1 reference

19 August 2017

7

Sharon B Schwartz

1 reference

19 August 2017

Tomas S Aleman

2

1 reference

19 August 2017

Alejandro J Roman

4

1 reference

19 August 2017

Elizabeth A M Windsor

6

1 reference

19 August 2017

language of work or name

English

0 references

publication date

30 December 2008

1 reference

Investigative Ophthalmology Visual Science

19 August 2017

1 reference

19 August 2017

50

1 reference

19 August 2017

5

1 reference

19 August 2017

2368-2375

1 reference

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

Evidence for RPE65-independent vision in the cone-dominated zebrafish retina

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

Human cone photoreceptor dependence on RPE65 isomerase

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

RPE65 is the isomerohydrolase in the retinoid visual cycle

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

Patterns of visual field progression in patients with retinitis pigmentosa

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal

1 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

Gene therapy restores vision in a canine model of childhood blindness

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

An alternative phototransduction model for human rod and cone ERG a-waves: normal parameters and variation with age.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2731629

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

20 October 2018

1 reference

12 December 2020

Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

In vivo assessment of photoreceptor function in human diseases caused by photoreceptor-specific gene mutations

1 reference

12 December 2020

Identifiers

DOI

10.1167/IOVS.08-2696

1 reference

19 August 2017

1 reference

19 August 2017

1 reference