Literature DB >> 9425888

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

A Martínez-Mir, E Paloma, R Allikmets, C Ayuso, T del Rio, M Dean, L Vilageliu, R Gonzàlez-Duarte, S Balcells.   

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Year:  1998        PMID： 9425888     DOI： 10.1038/ng0198-11

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


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  129 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.  Simple and complex ABCR: genetic predisposition to retinal disease.

Authors:  R Allikmets
Journal:  Am J Hum Genet       Date:  2000-09-01       Impact factor: 11.025

3.  Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

Authors:  Tomas R Burke; Gerald A Fishman; Jana Zernant; Carl Schubert; Stephen H Tsang; R Theodore Smith; Radha Ayyagari; Robert K Koenekoop; Allison Umfress; Maria Laura Ciccarelli; Alfonso Baldi; Alessandro Iannaccone; Frans P M Cremers; Caroline C W Klaver; Rando Allikmets
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-07-03       Impact factor: 4.799

Review 4.  Allelic and phenotypic heterogeneity in ABCA4 mutations.

Authors:  Tomas R Burke; Stephen H Tsang
Journal:  Ophthalmic Genet       Date:  2011-04-21       Impact factor: 1.803

Review 5.  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 6.  Retinoids for treatment of retinal diseases.

Authors:  Krzysztof Palczewski
Journal:  Trends Pharmacol Sci       Date:  2010-06       Impact factor: 14.819

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.  Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

Authors:  Miquel Tuson; Gemma Marfany; Roser Gonzàlez-Duarte
Journal:  Am J Hum Genet       Date:  2003-12-16       Impact factor: 11.025
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