(Q40539527)

21 September 2017

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence (English)

1 reference

21 September 2017

Samuel G Jacobson

10

0 references

Edwin M. Stone

object named as

Edwin M Stone

9

0 references

Artur V Cideciyan

1

object named as

Artur V Cideciyan

1 reference

21 September 2017

4

Sharon B Schwartz

1 reference

21 September 2017

8

Jean Bennett

1 reference

21 September 2017

5

Janet D Steinberg

1 reference

21 September 2017

Tomas S Aleman

2

1 reference

21 September 2017

Malgorzata Swider

3

1 reference

21 September 2017

Alexander J Brucker

6

1 reference

21 September 2017

Albert M Maguire

7

1 reference

21 September 2017

6 January 2004

1 reference

21 September 2017

Human Molecular Genetics

1 reference

21 September 2017

13

1 reference

21 September 2017

5

1 reference

21 September 2017

525-534

1 reference

ABC Transporters: From Microorganisms to Man

21 September 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Immunocytochemical localization of a large intrinsic membrane protein to the incisures and margins of frog rod outer segment disks.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

The effect of lipid environment and retinoids on the ATPase activity of ABCR, the photoreceptor ABC transporter responsible for Stargardt macular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Lipofuscin is a photoinducible free radical generator.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

ABCR, the ATP-binding cassette transporter responsible for Stargardt macular dystrophy, is an efficient target of all-trans-retinal-mediated photooxidative damage in vitro. Implications for retinal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

The 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 disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

An ABCA4 genomic deletion in patients with Stargardt disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Quantitative evaluation of fundus autofluorescence imaged "in vivo" in eyes with retinal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Macular pigment density and distribution: comparison of fundus autofluorescence with minimum motion photometry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

In vivo fundus autofluorescence in macular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Confronting complexity: the interlink of phototransduction and retinoid metabolism in the vertebrate retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

[Topography of fundus autofluorescence with a new confocal scanning laser ophthalmoscope]

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

Automated Light- and Dark- Adapted Perimetry for Evaluating Retinitis Pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH048

21 January 2018

Identifiers

DOI

10.1093/HMG/DDH048

1 reference

21 September 2017

1 reference