(Q33652414)

28 July 2017

1 reference

title

RPE65: role in the visual cycle, human retinal disease, and gene therapy (English)

1 reference

28 July 2017

0 references

1 reference

Xue Cai

1

1 reference

PubMed ID

19373675

28 July 2017

Shannon M Conley

series ordinal

2

1 reference

PubMed ID

19373675

28 July 2017

Muna I Naash

series ordinal

3

1 reference

28 July 2017

1 June 2009

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28 July 2017

1 reference

28 July 2017

30

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28 July 2017

2

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28 July 2017

57-62

1 reference

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

AAV-mediated gene therapy for retinal disorders: from mouse to man.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

Role of LRAT on the retinoid isomerase activity and membrane association of Rpe65

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

RPE65 is an iron(II)-dependent isomerohydrolase in the retinoid visual cycle.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

RPE65 is the isomerohydrolase in the retinoid visual cycle

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

A palmitoylation switch mechanism in the regulation of the visual cycle

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

Recombinant adeno-associated virus type 2-mediated gene delivery into the Rpe65-/- knockout mouse eye results in limited rescue

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

Rpe65 Is a Retinyl Ester Binding Protein That Presents Insoluble Substrate to the Isomerase in Retinal Pigment Epithelial Cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

In vivo gene therapy in young and adult RPE65-/- dogs produces long-term visual improvement.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

Ultraviolet and middle wavelength sensitive cone responses in the electroretinogram (ERG) of normal and Rpe65 -/- mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

Rat messenger RNA for the retinal pigment epithelium-specific protein RPE65 gradually accumulates in two weeks from late embryonic days

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

A developmentally regulated microsomal protein specific for the pigment epithelium of the vertebrate retina

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

The retinal pigment epithelial membrane receptor for plasma retinol-binding protein. Isolation and cDNA cloning of the 63-kDa protein.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

Changes in the DC electroretinogram in Briard dogs with hereditary congenital night blindness and partial day blindness

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

Characterization of a plasma retinol-binding protein membrane receptor expressed in the retinal pigment epithelium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

21 June 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802626399

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/10.1080%2F13816810802626399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802626399

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/10.1080%2F13816810802626399

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/10.1080%2F13816810802626399

11-cis-retinal reduces constitutive opsin phosphorylation and improves quantum catch in retinoid-deficient mouse rod photoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802626399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802626399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802626399

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/10.1080%2F13816810802626399

Lentiviral gene transfer-mediated cone vision restoration in RPE65 knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802626399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802626399

Cortical visual function in the rd12 mouse model of Leber Congenital Amarousis (LCA) after gene replacement therapy to restore retinal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802626399

Eye movement recordings as an effectiveness indicator of gene therapy in RPE65-deficient canines: implications for the ocular motor system

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802626399

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/10.1080%2F13816810802626399

Assessment of structure and function over a 3-year period after gene transfer in RPE65-/- dogs

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802626399

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/10.1080%2F13816810802626399

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

Identification of the RPE65 protein in mammalian cone photoreceptors.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

Gene therapy restores vision in a canine model of childhood blindness

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2821785

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

30 October 2018

1 reference

12 December 2020

The roles of three palmitoylation sites of RPE65 in its membrane association and isomerohydrolase activity

1 reference

12 December 2020

Morphogenesis of rod cells in the retina of the albino rat: A scanning electronmicroscopic study

1 reference

12 December 2020

Gene therapeutic prospects in early onset of severe retinal dystrophy: restoration of vision in RPE65 Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium

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

10.1080/13816810802626399

Identifiers

DOI

1 reference

28 July 2017

1 reference

28 July 2017

1 reference

PubMed ID

19373675