A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation (Q37241257)

19 August 2017

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

1 reference

19 August 2017

Birgit Lorenz

1

1 reference

19 August 2017

Eugenia Poliakov

2

1 reference

19 August 2017

Maria Schambeck

3

1 reference

19 August 2017

Christoph Friedburg

4

1 reference

19 August 2017

Markus N Preising

5

1 reference

19 August 2017

T Michael Redmond

6

1 reference

19 August 2017

language of work or name

English

0 references

publication date

3 July 2008

1 reference

Investigative Ophthalmology Visual Science

19 August 2017

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19 August 2017

49

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19 August 2017

12

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19 August 2017

5235-5242

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describes a project that uses

19 August 2017

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5015590/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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

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

6 September 2017

1 reference

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State-of-the-art retinal optical coherence tomography

6 September 2017

1 reference

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Rpe65 as a modifier gene for inherited retinal degeneration

6 September 2017

1 reference

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

6 September 2017

1 reference

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Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium

6 September 2017

1 reference

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Breaking the covalent bond--a pigment property that contributes to desensitization in cones.

6 September 2017

1 reference

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

6 September 2017

1 reference

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Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.

6 September 2017

1 reference

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Rpe65 Leu450Met variant is associated with reduced levels of the retinal pigment epithelium lipofuscin fluorophores A2E and iso-A2E.

6 September 2017

1 reference

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Dark adaptation and the retinoid cycle of vision

6 September 2017

1 reference

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A2E: a component of ocular lipofuscin

6 September 2017

1 reference

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

Retinal dystrophies caused by mutations in RPE65: assessment of visual functions

6 September 2017

1 reference

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

6 September 2017

1 reference

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

6 September 2017

1 reference

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

Mutations in RPE65 cause Leber's congenital amaurosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

A simple salting out procedure for extracting DNA from human nucleated cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

Effect of Leu/Met variation at residue 450 on isomerase activity and protein expression of RPE65 and its modulation by variation at other residues.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

The dark side of light: rhodopsin and the silent death of vision the proctor lecture

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

Mole quantity of RPE65 and its productivity in the generation of 11-cis-retinal from retinyl esters in the living mouse eye.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

Standard for clinical electroretinography (2004 update).

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

Phenotype in two families with RP3 associated with RPGR mutations

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

DNA Is a Target of the Photodynamic Effects Elicited in A2E-Laden RPE by Blue-Light Illumination

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

Gene therapy restores vision in a canine model of childhood blindness

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

The Rpe65 Leu450Met variation increases retinal resistance against light-induced degeneration by slowing rhodopsin regeneration.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

Staining of Blue-Sensitive Cones of the Macaque Retina by a Fluorescent Dye

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

Protection of Rpe65-deficient mice identifies rhodopsin as a mediator of light-induced retinal degeneration

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5015590

Early-onset severe rod-cone dystrophy in young children with RPE65 mutations

4 December 2018

1 reference

12 December 2020

Accessibility of the iodopsin chromophore

1 reference

12 December 2020

Rapid, simultaneous determination of isomers of retinal, retinal oxime and retinol by high-performance liquid chromatography

1 reference

12 December 2020

c-fos controls the "private pathway" of light-induced apoptosis of retinal photoreceptors

1 reference

12 December 2020

Identifiers

DOI

10.1167/IOVS.07-1671

1 reference

19 August 2017

1 reference

19 August 2017

1 reference