Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence (Q40539527)

21 September 2017

title

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

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21 September 2017

Samuel G Jacobson

10

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Edwin M. Stone

object named as

Edwin M Stone

9

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Artur V Cideciyan

1

object named as

Artur V Cideciyan

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21 September 2017

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Sharon B Schwartz

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21 September 2017

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Jean Bennett

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21 September 2017

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Janet D Steinberg

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21 September 2017

Tomas S Aleman

2

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21 September 2017

Malgorzata Swider

3

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21 September 2017

Alexander J Brucker

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21 September 2017

Albert M Maguire

7

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21 September 2017

publication date

6 January 2004

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21 September 2017

published in

Human Molecular Genetics

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21 September 2017

volume

13

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21 September 2017

issue

5

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21 September 2017

page(s)

525-534

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ABC Transporters: From Microorganisms to Man

21 September 2017

cites work

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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Lipofuscin is a photoinducible free radical generator.

21 January 2018

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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

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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

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An ABCA4 genomic deletion in patients with Stargardt disease

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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In vivo fundus autofluorescence in macular dystrophies

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDH048

1 reference

21 September 2017

1 reference