Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins. (Q38831021)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26427455 AND SRC:MED&resulttype=core&format=json

25 February 2020

title

Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins (English)

1 reference

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25 February 2020

5

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25 February 2020

author name string

Minghao Jin

1

1 reference

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25 February 2020

Songhua Li

2

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25 February 2020

Jane Hu

3

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25 February 2020

Heather H Jin

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26427455 AND SRC:MED&resulttype=core&format=json

25 February 2020

Dean Bok

6

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25 February 2020

language of work or name

English

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publication date

1 January 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26427455 AND SRC:MED&resulttype=core&format=json

Advances in Experimental Medicine and Biology

25 February 2020

number of pages

8

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based on heuristic

inferred from page(s)

published in

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25 February 2020

volume

854

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25 February 2020

page(s)

525-532

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26427455 AND SRC:MED&resulttype=core&format=json

Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites

25 February 2020

cites work

1 reference

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Receptor interacting protein kinase-mediated necrosis contributes to cone and rod photoreceptor degeneration in the retina lacking interphotoreceptor retinoid-binding protein

17 June 2018

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Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP)

17 June 2018

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Fatty acid transport protein 4 (FATP4) prevents light-induced degeneration of cone and rod photoreceptors by inhibiting RPE65 isomerase

17 June 2018

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Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement

17 June 2018

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

17 June 2018

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A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

17 June 2018

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Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65.

17 June 2018

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Crystal structure of native RPE65, the retinoid isomerase of the visual cycle

17 June 2018

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Predicting the pathogenicity of RPE65 mutations.

17 June 2018

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The role of interphotoreceptor retinoid-binding protein on the translocation of visual retinoids and function of cone photoreceptors

17 June 2018

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

17 June 2018

1 reference

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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

17 June 2018

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

17 June 2018

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

17 June 2018

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

17 June 2018

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Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium

17 June 2018

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Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17.

17 June 2018

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A cell culture medium that supports the differentiation of human retinal pigment epithelium into functionally polarized monolayers

17 June 2018

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ARPE-19, a human retinal pigment epithelial cell line with differentiated properties

17 June 2018

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Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

17 June 2018

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Use of protein repair therapy in the treatment of cystic fibrosis.

17 June 2018

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22 August 2018

https://api.crossref.org/works/10.1007/978-3-319-17121-0_70

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

31 March 2020

1 reference

Crossref

https://api.crossref.org/works/10.1007/978-3-319-17121-0_70

RPE65 is the isomerohydrolase in the retinoid visual cycle

31 March 2020

1 reference

Crossref

https://api.crossref.org/works/10.1007/978-3-319-17121-0_70

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

31 March 2020

1 reference

Crossref

https://api.crossref.org/works/10.1007/978-3-319-17121-0_70

10.1007/978-3-319-17121-0_70

31 March 2020

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26427455 AND SRC:MED&resulttype=core&format=json

release_rl6gynnhlngn3jnqzawjtrzese

25 February 2020

Fatcat ID

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mapped directly with Wikidata item

24 November 2022

based on heuristic

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26427455 AND SRC:MED&resulttype=core&format=json

25 February 2020

PubMed publication ID

26427455

1 reference