AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase (Q24564587)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

0 references

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:0001895

Aryl hydrocarbon receptor-interacting protein-like 1

1 reference

Leber congenital amaurosis

GOA release 2020-03-11

1 reference

inferred from title

corrigendum / erratum

0 references

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Clint L Makino

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Xiaoqing Liu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Oleg V Bulgakov

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Xiao-Hong Wen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Michael L Woodruff

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Basil Pawlyk

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Jun Yang

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Michael A Sandberg

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Tiansen Li

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

language of work or name

English

0 references

publication date

13 September 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

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

1 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

volume

101

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

issue

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

page(s)

13903-13908

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

NEDD8 ultimate buster-1L interacts with the ubiquitin-like protein FAT10 and accelerates its degradation

1 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Ligand-dependent interaction of the aryl hydrocarbon receptor with a novel immunophilin homolog in vivo

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

cGMP phosphodiesterase of retinal rods is regulated by two inhibitory subunits

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

More than folding: localized functions of cytosolic chaperones

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Human DnaJ homologs dj2 and dj3, and bag-1 are positive cochaperones of hsc70

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

The tetratricopeptide repeat: a structural motif mediating protein-protein interactions

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

The tetratricopeptide repeat: a structural motif mediating protein-protein interactions

24 March 2017

1 reference

Crossref

https://api.crossref.org/works/10.1073/PNAS.0405160101

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

The Y99C mutation in guanylyl cyclase-activating protein 1 increases intracellular Ca2+ and causes photoreceptor degeneration in transgenic mice.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

An overview of Leber congenital amaurosis: a model to understand human retinal development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Role of hsp90 and the hsp90-binding immunophilins in signalling protein movement

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

The role of chaperone proteins in the aryl hydrocarbon receptor core complex

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Measurement of cytoplasmic calcium concentration in the rods of wild-type and transducin knock-out mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

G proteins and phototransduction.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Unfolding retinal dystrophies: a role for molecular chaperones?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Adaptation in vertebrate photoreceptors.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Maturation of steroid receptors: an example of functional cooperation among molecular chaperones and their associated proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

The role of steady phosphodiesterase activity in the kinetics and sensitivity of the light-adapted salamander rod photoresponse

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Peptidyl-prolyl cis-trans isomerases, a superfamily of ubiquitous folding catalysts

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Probing domain functions of chimeric PDE6alpha'/PDE5 cGMP-phosphodiesterase.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Molecular origin of continuous dark noise in rod photoreceptors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Rod photoreceptor cGMP-phosphodiesterase: analysis of alpha and beta subunits expressed in human kidney cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Expression and mutagenesis of mouse rod photoreceptor cGMP phosphodiesterase

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

cGMP is tightly bound to bovine retinal rod phosphodiesterase

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Isolation and characterization of cGMP phosphodiesterase from bovine rod outer segments

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

The effects of light and dark adaptation on the levels of cyclic nucleotides in retinas of mice heterozygous for a gene for photoreceptor dystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Relationship of oscillatory potential amplitude to A-wave slope over a range of flash luminances in normal subjects

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

The cyclophilin homolog ninaA is required in the secretory pathway

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0405160101

The catalytic and GAF domains of the rod cGMP phosphodiesterase (PDE6) heterodimer are regulated by distinct regions of its inhibitory gamma subunit

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0405160101

Rod phototransduction in retinitis pigmentosa: estimation and interpretation of parameters derived from the rod a-wave.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518851

Cyclic GMP in the retinas of normal mice and those heterozygous for early-onset photoreceptor dystrophy

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15365173

12 December 2020

inferred from PubMed ID database lookup

A quantitative account of the activation steps involved in phototransduction in amphibian photoreceptors

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15365173

12 December 2020

inferred from PubMed ID database lookup

Immunophilins in the nervous system

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15365173

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.0405160101

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

0 references

release_wjokznvkibe4rpwbujxfsc7fry

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wjokznvkibe4rpwbujxfsc7fry

24 November 2022

mapped directly with Wikidata item

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365173%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

2 references