(Q28510347)

Leber congenital amaurosis

GOA release 2020-03-11

1 reference

10

Krzysztof Palczewski

1 reference

25 January 2017

3

Tadao Maeda

1 reference

25 January 2017

J. Preston Van Hooser

1

1 reference

25 January 2017

Yan Liang

2

1 reference

25 January 2017

Vladimir Kuksa

4

1 reference

25 January 2017

Geeng-Fu Jang

5

1 reference

25 January 2017

Yu-Guang He

6

1 reference

25 January 2017

Fred Rieke

7

1 reference

25 January 2017

Henry K. W. Fong

8

1 reference

25 January 2017

Peter B. Detwiler

Journal of Biological Chemistry

9

1 reference

25 January 2017

language of work or name

English

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publication date

24 May 2002

1 reference

25 January 2017

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25 January 2017

277

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25 January 2017

19173–19182

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25 January 2017

21

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25 January 2017

Isomerization of 11-cis-retinoids to all-trans-retinoids in vitro and in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Characterization of a dehydrogenase activity responsible for oxidation of 11-cis-retinol in the retinal pigment epithelium of mice with a disrupted RDH5 gene. A model for the human hereditary disease fundus albipunctatus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

The retinal pigment epithelial-specific 11-cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Confronting complexity: the interlink of phototransduction and retinoid metabolism in the vertebrate retina

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Stereoisomeric specificity of the retinoid cycle in the vertebrate retina

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

A comparison of the efficiency of G protein activation by ligand-free and light-activated forms of rhodopsin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Alpha-tocopherol and phylloquinone as non-competitive inhibitors of retinyl ester hydrolysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Protection from light damage by ocular pigmentation: analysis using experimental chimeras and translocation mice

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Photoreceptor fine structure in light- and dark-adaptation in the butterfly fish (Pantodon buchholzi).

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Actin-dependent myoid elongation in teleost rod inner/outer segments occurs in the absence of net actin polymerization

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Dietary retinol--a double-edged sword

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

A photic visual cycle of rhodopsin regeneration is dependent on Rgr.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

The formation of stable rhodopsin-arrestin complexes induces apoptosis and photoreceptor cell degeneration.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Isomerization of all-trans-retinol to cis-retinols in bovine retinal pigment epithelial cells: dependence on the specificity of retinoid-binding proteins

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Kinetics of visual pigment regeneration in excised mouse eyes and in mice with a targeted disruption of the gene encoding interphotoreceptor retinoid-binding protein or arrestin.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Location and function of voltage-sensitive conductances in retinal rods of the salamander, Ambystoma tigrinum.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1470660

Effect of age on the levels of retinol and retinyl esters in blood plasma, liver and kidney of dogs

27 November 2018

1 reference

12 December 2020

Bleached pigment activates transduction in isolated rods of the salamander retina

1 reference

12 December 2020

Retinal damage by constant light in chimaeric mice: implications for the protective role of melanin

1 reference

12 December 2020

Spatial spread of activation and background desensitization in toad rod outer segments

1 reference

12 December 2020

ELECTRON MICROSCOPY OF A RETINAL ABIOTROPHY

1 reference

12 December 2020

Genetic analysis of RPE65: from human disease to mouse model

1 reference

12 December 2020

Vitamin A in blood plasma and urine of dogs is affected by the dietary level of vitamin A

1 reference

12 December 2020

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

1 reference

12 December 2020