Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4. (Q36492749)

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English	Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4.	scientific article

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scholarly article

1 reference

Europe PubMed Central

14 August 2017

Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4. (English)

1 reference

Europe PubMed Central

14 August 2017

author name string

Esther E Biswas-Fiss

1

1 reference

Europe PubMed Central

14 August 2017

Stephanie Affet

2

1 reference

Europe PubMed Central

14 August 2017

Malissa Ha

3

1 reference

Europe PubMed Central

14 August 2017

Subhasis B Biswas

4

1 reference

Europe PubMed Central

14 August 2017

language of work or name

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publication date

9 November 2012

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Europe PubMed Central

14 August 2017

number of pages

11

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inferred from page(s)

Journal of Biological Chemistry

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Europe PubMed Central

14 August 2017

287

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Europe PubMed Central

14 August 2017

53

1 reference

Europe PubMed Central

14 August 2017

44097-44107

1 reference

Europe PubMed Central

14 August 2017

Lipofuscin and N-retinylidene-N-retinylethanolamine (A2E) accumulate in retinal pigment epithelium in absence of light exposure: their origin is 11-cis-retinal

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531725

30 September 2017

Lipofuscin and A2E accumulate with age in the retinal pigment epithelium of Nrl-/- mice

1 reference

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Gene delivery to the retina: from mouse to man.

1 reference

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Alternating access to the transmembrane domain of the ATP-binding cassette protein cystic fibrosis transmembrane conductance regulator (ABCC7).

1 reference

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30 September 2017

Analysis of the ABCA4 gene by next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531725

30 September 2017

Conformational coupling of the nucleotide-binding and the transmembrane domains in ABC transporters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531725

30 September 2017

Key enzymes of the retinoid (visual) cycle in vertebrate retina

1 reference

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A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis

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Sequences in the nonconsensus nucleotide-binding domain of ABCG5/ABCG8 required for sterol transport

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The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease

1 reference

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Molecular Basis of Alternating Access Membrane Transport by the Sodium-Hydantoin Transporter Mhp1

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Interaction of extracellular domain 2 of the human retina-specific ATP-binding cassette transporter (ABCA4) with all-trans-retinal

1 reference

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30 September 2017

Human ATP-binding cassette (ABC) transporter family

1 reference

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Gating of the CFTR Cl- channel by ATP-driven nucleotide-binding domain dimerisation

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ABC transporters: the power to change

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The genomic basis of disease, mechanisms and assays for genomic disorders

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30 September 2017

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531725

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Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family

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Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes

1 reference

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Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531725

30 September 2017

Functional analysis of genetic mutations in nucleotide binding domain 2 of the human retina specific ABC transporter.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531725

30 September 2017

ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy

1 reference

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The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review

1 reference

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Mechanism of ABC transporters: a molecular dynamics simulation of a well characterized nucleotide-binding subunit

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Modulation by flavonoids of cell multidrug resistance mediated by P-glycoprotein and related ABC transporters

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The C-terminal nucleotide binding domain of the human retinal ABCR protein is an adenosine triphosphatase

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531725

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Simple and complex ABCR: genetic predisposition to retinal disease

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Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

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Purification and characterization of ABCR from bovine rod outer segments

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Genetic susceptibility to age related macular degeneration

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A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus

1 reference

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Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene

1 reference

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Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease

1 reference

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Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

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Getting in or out: early segregation between importers and exporters in the evolution of ATP-binding cassette (ABC) transporters

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Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

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Distantly related sequences in the alpha- and beta-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding fold

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Functional interaction between the two halves of the photoreceptor-specific ATP binding cassette protein ABCR (ABCA4). Evidence for a non-exchangeable ADP in the first nucleotide binding domain

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531725

28 June 2018

Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531725

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Nucleotide binding domain 1 of the human retinal ABC transporter functions as a general ribonucleotidase

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ATP-binding cassette transporter ABCA4: molecular properties and role in vision and macular degeneration

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Interaction of the nucleotide binding domains and regulation of the ATPase activity of the human retina specific ABC transporter, ABCR.

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The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531725

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ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531725

21 September 2018

Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531725

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Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration

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21 September 2018

Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531725

21 September 2018

Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters: identification of N-linked glycosylation sites

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The ABCR Gene in Recessive and Dominant Stargardt Diseases: A Genetic Pathway in Macular Degeneration

1 reference

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An analysis of ABCR mutations in British patients with recessive retinal dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/23144455

12 December 2020

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ABCR unites what ophthalmologists divide(s)

1 reference

https://pubmed.ncbi.nlm.nih.gov/23144455

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intrafamilial variation of phenotype in Stargardt macular dystrophy-Fundus flavimaculatus

1 reference

https://pubmed.ncbi.nlm.nih.gov/23144455

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical defects in ABCR protein variants associated with human retinopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/23144455

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the properties of the N-terminal nucleotide-binding domain of human P-glycoprotein

1 reference

https://pubmed.ncbi.nlm.nih.gov/23144455

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ABCR expression in foveal cone photoreceptors and its role in stargardt macular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/23144455

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/23144455

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An analysis of allelic variation in the ABCA4 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/23144455

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1074/JBC.M112.409623

1 reference

Europe PubMed Central

14 August 2017

1 reference

Europe PubMed Central

14 August 2017

1 reference

Europe PubMed Central

14 August 2017

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