The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)
about
ABCA5 resides in lysosomes, and ABCA5 knockout mice develop lysosomal disease-like symptomsCloning, characterization and tissue distribution of the rat ATP-binding cassette (ABC) transporter ABC2/ABCA2Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt diseaseThe 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt diseaseCorrection of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapyRetina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Müller glial cellsClinical Trials in Retinal DystrophiesAAV-mediated gene therapy in mouse models of recessive retinal degenerationRetinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt diseasePhotoreceptor renewal: a role for peripherin/rdsInsect Resistance to Bacillus thuringiensis Toxin Cry2Ab Is Conferred by Mutations in an ABC Transporter Subfamily A ProteinRP1 is required for the correct stacking of outer segment discsRole of the C terminus of the photoreceptor ABCA4 transporter in protein folding, function, and retinal degenerative diseases.Drug delivery to posterior intraocular tissues: third Annual ARVO/Pfizer Ophthalmics Research Institute Conference.Cone photoreceptor abnormalities correlate with vision loss in patients with Stargardt disease.Quantitative fundus autofluorescence in recessive Stargardt diseaseABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina.Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementationBiosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degenerationRecent advances in the molecular basis of inherited photoreceptor degeneration.Simple and complex ABCR: genetic predisposition to retinal disease.The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease.Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration"Oxidative protector" enzymes in the macular retinal pigment epithelium of aging eyes and eyes with age-related macular degeneration.Genetic basis of inherited macular dystrophies and implications for stem cell therapy.Mechanisms of cell death in the inherited retinal degenerationsVitamin A metabolism: an update.Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration.Distinct characteristics of inferonasal fundus autofluorescence patterns in stargardt disease and retinitis pigmentosa.ATP binding cassette transporter retina genotypes and age related macular degeneration: an analysis on exudative non-familial Japanese patients.Posttranslational modifications of the photoreceptor-specific ABC transporter ABCA4Membrane receptors and transporters involved in the function and transport of vitamin A and its derivatives.Genetic factors of age-related macular degeneration.Reduced macular function in ABCA4 carriers.Prospectives for gene therapy of retinal degenerationsMolecular diagnosis of ATP-binding cassette transporter-related diseases.A unique pattern of photoreceptor degeneration in cyclin D1 mutant mice.Light and inherited retinal degeneration.Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4.Diseases of intramembranous lipid transport.
P2860
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P2860
The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)
description
1997 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1997
@ast
im Juni 1997 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1997/06/09)
@sk
vědecký článek publikovaný v roce 1997
@cs
wetenschappelijk artikel (gepubliceerd op 1997/06/09)
@nl
наукова стаття, опублікована в червні 1997
@uk
научни чланак (објављен 1997/06/09)
@sr
name
The photoreceptor rim protein ...... ive Stargardt's disease (ABCR)
@ast
The photoreceptor rim protein ...... ive Stargardt's disease (ABCR)
@en
The photoreceptor rim protein ...... ive Stargardt's disease (ABCR)
@nl
type
label
The photoreceptor rim protein ...... ive Stargardt's disease (ABCR)
@ast
The photoreceptor rim protein ...... ive Stargardt's disease (ABCR)
@en
The photoreceptor rim protein ...... ive Stargardt's disease (ABCR)
@nl
prefLabel
The photoreceptor rim protein ...... ive Stargardt's disease (ABCR)
@ast
The photoreceptor rim protein ...... ive Stargardt's disease (ABCR)
@en
The photoreceptor rim protein ...... ive Stargardt's disease (ABCR)
@nl
P2860
P921
P1433
P1476
The photoreceptor rim protein ...... ive Stargardt's disease (ABCR)
@en
P2093
G. H. Travis
S. M. Azarian
P2860
P304
P356
10.1016/S0014-5793(97)00517-6
P407
P577
1997-06-09T00:00:00Z