Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase (Q28509144)

Leber congenital amaurosis

GOA release 2020-03-11

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inferred from title

author name string

Visvanathan Ramamurthy

1

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24 January 2017

Gregory A. Niemi

2

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24 January 2017

Thomas A. Reh

3

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24 January 2017

James B. Hurley

Proceedings of the National Academy of Sciences of the United States of America

4

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24 January 2017

language of work or name

English

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publication date

21 September 2004

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24 January 2017

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24 January 2017

101

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24 January 2017

38

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24 January 2017

13897–13902

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24 January 2017

AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

Nrl is required for rod photoreceptor development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

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=518850

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

Purification and characterization of the gamma regulatory subunit of the cyclic GMP phosphodiesterase from retinal rod outer segments

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

The gamma subunit of transducin is farnesylated

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

In vivo differential prenylation of retinal cyclic GMP phosphodiesterase catalytic subunits

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human 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=518850

Retinal degeneration in mice lacking the gamma subunit of the rod cGMP phosphodiesterase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

Expression and mutagenesis of mouse rod photoreceptor cGMP phosphodiesterase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

In vivo requirement of protein prenylation for maintenance of retinal cytoarchitecture and photoreceptor structure.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

Isolation of a candidate cDNA for the gene causing retinal degeneration in the rd mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

Analysis and quantitation of mRNAs encoding the alpha- and beta-subunits of rod photoreceptor cGMP phosphodiesterase in neonatal retinal degeneration (rd) mouse retinas

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

Characterization of a phosphodiesterase-immunoreactive polypeptide from rod photoreceptors of developing rd mouse retinas

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

Isoprenylation of a protein kinase. Requirement of farnesylation/alpha-carboxyl methylation for full enzymatic activity of rhodopsin kinase

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

Differential effect of the rd mutation on rods and cones in the mouse retina

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518850

Prevalence of AIPL1 mutations in inherited retinal degenerative disease

2 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0404197101

Aberrant expression of c-Fos accompanies photoreceptor cell death in the rd mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0404197101

A simple polymerase chain reaction assay for genotyping the retinal degeneration mutation (Pdeb(rd1)) in FVB/N-derived transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0404197101

Farnesylated γ-subunit of photoreceptor G protein indispensable for GTP-binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0404197101

Accumulation of glial fibrillary acidic protein in Müller radial glia during retinal degeneration

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15365178

12 December 2020

inferred from PubMed ID database lookup

Measurement of cyclic nucleotides in retina

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15365178

12 December 2020

inferred from PubMed ID database lookup

Mullerian glia in dystrophic rodent retinas: an immunocytochemical analysis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15365178

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.0404197101

1 reference

3986055

ADS bibcode

2004PNAS..10113897R

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3986055

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1 reference

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