(Q45881587)

17 December 2017

title

RPE65 gene therapy slows cone loss in Rpe65-deficient dogs (English)

1 reference

17 December 2017

0 references

7

1 reference

17 December 2017

author name string

F M Mowat

1

1 reference

17 December 2017

A R Breuwer

2

1 reference

17 December 2017

J T Bartoe

3

1 reference

17 December 2017

M J Annear

4

1 reference

17 December 2017

Z Zhang

5

1 reference

17 December 2017

A J Smith

6

1 reference

17 December 2017

S M Petersen-Jones

8

1 reference

17 December 2017

R R Ali

9

1 reference

17 December 2017

publication date

6 September 2012

1 reference

17 December 2017

published in

Gene Therapy

1 reference

17 December 2017

volume

20

1 reference

17 December 2017

issue

5

1 reference

17 December 2017

page(s)

545-555

1 reference

17 December 2017

https://scigraph.springernature.com/pub.10.1038/gt.2012.63

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

RPE65, visual cycle retinol isomerase, is not inherently 11-cis-specific: support for a carbocation mechanism of retinol isomerization

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

RPE65 is the isomerohydrolase in the retinoid visual cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Intra-retinal visual cycle required for rapid and complete cone dark adaptation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

An alternative pathway mediates the mouse and human cone visual cycle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

The cone-specific visual cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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/10.1038%2FGT.2012.63

Cone opsin mislocalization in Rpe65-/- mice: a defect that can be corrected by 11-cis retinal

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Nrl-knockout mice deficient in Rpe65 fail to synthesize 11-cis retinal and cone outer segments

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Regeneration of photopigment is enhanced in mouse cone photoreceptors expressing RPE65 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Human cone photoreceptor dependence on RPE65 isomerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Vision 1 year after gene therapy for Leber's congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Self-complementary AAV-mediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Gene therapy regenerates protein expression in cone photoreceptors in Rpe65(R91W/R91W) mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

The Briard dog: a new animal model of congenital stationary night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Ultrastructural changes of the retina and the retinal pigment epithelium in Briard dogs with hereditary congenital night blindness and partial day blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Altered expression of retinal molecular markers in the canine RPE65 model of Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Improvement of visual performance with intravitreal administration of 9-cis-retinal in Rpe65-mutant dogs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Gene therapy in the second eye of RPE65-deficient dogs improves retinal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Trafficking of membrane-associated proteins to cone photoreceptor outer segments requires the chromophore 11-cis-retinal

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Distribution and morphology of human cone photoreceptors stained with anti-blue opsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Spatial and temporal differences between the expression of short- and middle-wave sensitive cone pigments in the mouse retina: a developmental study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

The patterning and onset of opsin expression in vertebrate retinae

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Distribution and development of short-wavelength cones differ between Macaca monkey and human fovea.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Cone outer segment morphology and cone function in the Rpe65-/- Nrl-/- mouse retina are amenable to retinoid replacement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Cone opsin determines the time course of cone photoreceptor degeneration in Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

The mammalian cone visual cycle promotes rapid M/L-cone pigment regeneration independently of the interphotoreceptor retinoid-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Identification and characterization of rod-derived cone viability factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

High-titer adeno-associated viral vectors from a Rep/Cap cell line and hybrid shuttle virus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

Gene expression networks underlying retinoic acid-induced differentiation of human retinoblastoma cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

7 January 2021

Case 15-2009: a man with coma after cardiac arrest

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

7 January 2021

Retinal dystrophy or 'congenital stationary night blindness' in the Briard dog

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

7 January 2021

Slowly progressive changes of the retina and retinal pigment epithelium in Briard dogs with hereditary retinal dystrophy. A morphological study

1 reference

https://api.crossref.org/works/10.1038%2FGT.2012.63

7 January 2021

Identifiers

DOI

10.1038/GT.2012.63

1 reference

17 December 2017

Dimensions Publication ID

1013445754

0 references

1 reference

17 December 2017