Mechanistic studies of ABCR, the ABC transporter in photoreceptor outer segments responsible for autosomal recessive Stargardt disease (Q34502476)

2 August 2017

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title

Mechanistic studies of ABCR, the ABC transporter in photoreceptor outer segments responsible for autosomal recessive Stargardt disease (English)

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2 August 2017

photoreceptor protein

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author name string

Sun H

series ordinal

1

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2 August 2017

Nathans J

series ordinal

2

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2 August 2017

language of work or name

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1 December 2001

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Journal of Bioenergetics and Biomembranes

2 August 2017

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2 August 2017

33

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2 August 2017

6

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2 August 2017

523-530

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https://scigraph.springernature.com/pub.10.1023/a:1012883306823

2 August 2017

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Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

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Identification and characterization of all-trans-retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol

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

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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

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Opsin/all-trans-retinal complex activates transducin by different mechanisms than photolyzed rhodopsin

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The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily

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

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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

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Isolation and one-step preparation of A2E and iso-A2E, fluorophores from human retinal pigment epithelium

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

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ATPase activity of purified and reconstituted P-glycoprotein from Chinese hamster ovary cells.

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Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

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12 December 2020

Identifiers

DOI

10.1023/A:1012883306823

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Dimensions Publication ID

2 August 2017

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