(Q22001516)

PubMed

9 September 2022

Seung-Ah Lee

1

Seung-Ah

Lee

1 reference

PubMed

20006610

9 September 2022

Olga V Belyaeva

series ordinal

2

author given names

Olga V

author last names

Belyaeva

1 reference

PubMed

20006610

Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations

9 September 2022

language of work or name

English

0 references

publication date

5 February 2010

0 references

published in

FEBS Letters

0 references

volume

584

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issue

3

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page(s)

507-10

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2812597

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2812597

Retinal dehydrogenase 12 (RDH12) mutations in 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=2812597

Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2812597

Limited roles of Rdh8, Rdh12, and Abca4 in all-trans-retinal clearance in mouse retina

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2812597

Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2812597

Retinol dehydrogenase (RDH12) protects photoreceptors from light-induced degeneration in mice

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2812597

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2812597

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2812597

Properties of short-chain dehydrogenase/reductase RalR1: characterization of purified enzyme, its orientation in the microsomal membrane, and distribution in human tissues and cell lines.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2812597

Degradation of mutant proteins, underlying "loss of function" phenotypes, plays a major role in genetic disease.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2812597

A proteasome howdunit: the case of the missing signal

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2812597

Biochemistry of visual pigment regeneration: the Friedenwald lecture.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2812597

Calcium-activated neutral protease (calpain) system: structure, function, and regulation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2812597

Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.

12 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2009.12.009

Overproduction of bioactive retinoic acid in cells expressing disease-associated mutants of retinol dehydrogenase 12.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2009.12.009

Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2009.12.009

10.1016/J.FEBSLET.2009.12.009

21 January 2018

Identifiers

DOI

0 references

Fatcat ID

release_x44y67iv6fbgpcobdq2wrj7w7m

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PMC publication ID

2812597

0 references