Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
Amalia Martinez-Mir,E Paloma,Rando Allikmets,Carmen Ayuso,del Rio T,Michael Dean,Lluïsa Vilageliu,Roser Gonzàlez-Duarte,Susana Balcells +8 more
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This article is published in Nature Genetics.The article was published on 1998-01-01 and is currently open access. It has received 403 citations till now. The article focuses on the topics: ABCA4 & Stargardt disease.read more
Citations
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Journal ArticleDOI
The Retinal Pigment Epithelium in Visual Function
TL;DR: This review summarizes the current knowledge of RPE functions and describes how failure of these functions causes loss of visual function.
Journal ArticleDOI
The human ATP-binding cassette (ABC) transporter superfamily
TL;DR: The ATP-binding cassette (ABC) transporters are essential for many processes in the cell and mutations in these genes cause or contribute to several human genetic disorders including cystic fibrosis, neurological disease, retinal degeneration, cholesterol and bile transport defects, anemia, and drug response.
Journal ArticleDOI
The Human ATP-Binding Cassette (ABC) Transporter Superfamily
TL;DR: The current knowledge of the human ABC genes, their role in inherited disease, and understanding of the topology of these genes within the membrane are reviewed.
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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
TL;DR: The ocular phenotype in abcr knockout mice is characterized and data suggest that RmP functions as an outwardly directed flippase for N-retinylidene-PE, and ABCR-mediated retinal degeneration may result from "poisoning" of the RPE due to A2-E accumulation.
Journal ArticleDOI
An inventory of the human ABC proteins.
TL;DR: The arrangement of transmembrane domains, together with available membrane topology models of the family members, are presented and based on their sequence similarity scores, the members of the human ABC protein family can be grouped into eight subfamilies.
References
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Journal ArticleDOI
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
Rando Allikmets,Nanda A. Singh,Hui Sun,Noah F. Shroyer,Amy Hutchinson,Abirami Chidambaram,Bernard Gerrard,Lisa Baird,Dora Stauffer,Andy Peiffer,Amir Rattner,Philip M. Smallwood,Yixin Li,Kent L. Anderson,Richard A. Lewis,Jeremy Nathans,Mark Leppert,Michael Dean,James R. Lupski +18 more
TL;DR: Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage, indicating that ABCR is the causal gene of STGD/FFM.
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Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
Rando Allikmets,Noah F. Shroyer,Nanda A. Singh,Johanna M. Seddon,Richard A. Lewis,Paul S. Bernstein,Andy Peiffer,Norman A. Zabriskie,Yixin Li,Amy Hutchinson,Michael Dean,James R. Lupski,Mark Leppert +12 more
TL;DR: Identification of ABCR alterations will permit presymptomatic testing of high-risk individuals and may lead to earlier diagnosis of AMD and to new strategies for prevention and therapy.
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Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
Sumin Gu,Debra A. Thompson,C. R.Srisailapathy Srikumari,Birgit Lorenz,Ulrich Finckh,Aileen Nicoletti,K. R. Murthy,Michaela Rathmann,Govindasamy Kumaramanickavel,Michael J. Denton,Andreas Gal +10 more
TL;DR: The analysis of RPE65 in a collection of about 100 unselected retinal-dystrophy patients of different ethnic origin revealed five that are likely to be pathogenic mutations, including a missense mutation, two point mutations affecting splicing and two small re-arrangements on a total of nine alleles of five patients with arCSRD.
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Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa.
Marion A. Maw,Breandán N. Kennedy,Allison Knight,Robyn Bridges,Karen E. Roth,E.J. Mani,J.K. Mukkadan,Derek J. Nancarrow,John W. Crabb,Michael J. Denton +9 more
TL;DR: Molecular genetic analysis of a consanguineous pedigree segregating for non-syndromic autosomal recessive retinitis pigmentosa indicated that the affected siblings were homozygous by descent for a G4763A nucleotide substitution in RLBP1, the gene encoding cellular retinaldehyde-binding protein (CRALBP).
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The 220-kDa Rim Protein of Retinal Rod Outer Segments Is a Member of the ABC Transporter Superfamily
TL;DR: The 220-kDa glycoprotein of bovine rod outer segment disc membranes or Rim ABC protein is a new member of the superfamily of ABC transporters and is the mammalian homolog of the frog photoreceptor rim protein.