(Q33697709)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20042464%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20042464%20AND%20SRC:MED&resulttype=core&format=json

Leber congenital amaurosis

16 January 2020

main subject

congenital disorder

0 references

photoreceptor protein

0 references

1 reference

based on heuristic

inferred from title

author

Visvanathan Ramamurthy

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20042464%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

author name string

Lindsay T Kirschman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20042464%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Saravanan Kolandaivelu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20042464%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Jeanne M Frederick

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20042464%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Loan Dang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20042464%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Andrew F X Goldberg

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20042464%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Wolfgang Baehr

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20042464%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

publication date

30 December 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20042464%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20042464%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20042464%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20042464%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

page(s)

1076-1087

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20042464%20AND%20SRC:MED&resulttype=core&format=json

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

16 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=2830831

AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

High cGMP synthetic activity in carp cones.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Purification and partial characterization of a lutein-binding protein from human retina

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Functional cone rescue by RdCVF protein in a dominant model of retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Remodeling of cone photoreceptor cells after rod degeneration in rd mice.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Stimulation of the insulin/mTOR pathway delays cone death in a mouse model of retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Rod photoreceptor differentiation in fetal and infant human retina

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Leber congenital amaurosis: genes, proteins and disease mechanisms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

An intramembrane glutamic acid governs peripherin/rds function for photoreceptor disk morphogenesis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Identification and characterization of rod-derived cone viability factor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Calcium regulation in photoreceptors.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Cell death in retinitis pigmentosa: gap junctions and the 'bystander' effect

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Retinal degeneration mutants in the mouse

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

From mice to men: the cyclic GMP phosphodiesterase gene in vision and disease. The Proctor Lecture.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis

21 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP571

ISCEV Standard for full-field clinical electroretinography (2008 update).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP571

Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP571

A mutation in the cone-specific pde6 gene causes rapid cone photoreceptor degeneration in zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP571

Synaptic Ca2+ in darkness is lower in rods than cones, causing slower tonic release of vesicles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP571

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/10.1093%2FHMG%2FDDP571

Predominant rod photoreceptor degeneration in Leber congenital amaurosis.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

Morphological and functional abnormalities in the inner retina of the rd/rd mouse.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830831

30 October 2018

Identifiers

DOI

10.1093/HMG/DDP571

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20042464%20AND%20SRC:MED&resulttype=core&format=json

release_buhwn5gesffhtmf47v3neuevpi

16 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/buhwn5gesffhtmf47v3neuevpi

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20042464%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference