Literature DB >> 10888868

ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy.

L L Molday1, A R Rabin, R S Molday.   

Abstract

Mutations in the gene encoding ABCR are responsible for Stargardt macular dystrophy. Here we show by immunofluorescence microscopy and western-blot analysis that ABCR is present in foveal and peripheral cone, as well as rod, photoreceptors. Our results suggest that the loss in central vision experienced by Stargardt patients arises directly from ABCR-mediated foveal cone degeneration.

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Year:  2000        PMID: 10888868     DOI: 10.1038/77004

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  83 in total

Review 1.  Mechanistic studies of ABCR, the ABC transporter in photoreceptor outer segments responsible for autosomal recessive Stargardt disease.

Authors:  H Sun; J Nathans
Journal:  J Bioenerg Biomembr       Date:  2001-12       Impact factor: 2.945

Review 2.  Pattern ERG: clinical overview, and some observations on associated fundus autofluorescence imaging in inherited maculopathy.

Authors:  G E Holder; A G Robson; C R Hogg; M Kurz-Levin; N Lois; A C Bird
Journal:  Doc Ophthalmol       Date:  2003-01       Impact factor: 2.379

3.  Interpretations of fundus autofluorescence from studies of the bisretinoids of the retina.

Authors:  Janet R Sparrow; Kee Dong Yoon; Yalin Wu; Kazunori Yamamoto
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-09       Impact factor: 4.799

Review 4.  The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease.

Authors:  Yaroslav Tsybovsky; Robert S Molday; Krzysztof Palczewski
Journal:  Adv Exp Med Biol       Date:  2010       Impact factor: 2.622

Review 5.  The retinal pigment epithelium in health and disease.

Authors:  J R Sparrow; D Hicks; C P Hamel
Journal:  Curr Mol Med       Date:  2010-12       Impact factor: 2.222

Review 6.  Retinal remodeling.

Authors:  B W Jones; M Kondo; H Terasaki; Y Lin; M McCall; R E Marc
Journal:  Jpn J Ophthalmol       Date:  2012-05-30       Impact factor: 2.447

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

Authors:  Robert S Molday
Journal:  J Bioenerg Biomembr       Date:  2007-12       Impact factor: 2.945

8.  ABCA4 disease progression and a proposed strategy for gene therapy.

Authors:  Artur V Cideciyan; Malgorzata Swider; Tomas S Aleman; Yaroslav Tsybovsky; Sharon B Schwartz; Elizabeth A M Windsor; Alejandro J Roman; Alexander Sumaroka; Janet D Steinberg; Samuel G Jacobson; Edwin M Stone; Krzysztof Palczewski
Journal:  Hum Mol Genet       Date:  2008-12-12       Impact factor: 6.150

Review 9.  The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.

Authors:  Robert S Molday; Ming Zhong; Faraz Quazi
Journal:  Biochim Biophys Acta       Date:  2009-02-20

10.  Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations.

Authors:  Wei Chieh Huang; Artur V Cideciyan; Alejandro J Roman; Alexander Sumaroka; Rebecca Sheplock; Sharon B Schwartz; Edwin M Stone; Samuel G Jacobson
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-03-20       Impact factor: 4.799

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