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The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration
Open accessAbstract
ABCA4 is a member of the ABCA subfamily of ATP binding cassette (ABC) transporters that is expressed in rod and cone photoreceptors of the vertebrate retina. ABCA4, also known as the Rim protein and ABCR, is a large 2,273 amino acid glycoprotein organized as two tandem halves, each containing a single membrane spanning segment followed sequentially by a large exocytoplasmic domain, a multispanning membrane domain and a nucleotide binding domain. Over 500 mutations in the gene encoding ABCA4 are associated with a spectrum of related autosomal recessive retinal degenerative diseases including Stargardt macular degeneration, cone-rod dystrophy and a subset of retinitis pigmentosa. Biochemical studies on the purified ABCA4 together with analysis of abca4 knockout mice and patients with Stargardt disease have implicated ABCA4 as a retinylidene-phosphatidylethanolamine transporter that facilitates the removal of potentially reactive retinal derivatives from photoreceptors following photoexcitation. Knowledge of the genetic and molecular basis for ABCA4 related retinal degenerative diseases is being used to develop rationale therapeutic treatments for this set of disorders.
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“As A2E can not be further metabolized and as RPE cells are postmitotic, A2E and related bisretinoids accumulate in the RPE in the form of lipofuscin deposits.”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“In the membranes of outer photoreceptor segments are nonenzymatically formed toxic bisretinoids. Upon phagocytosis, these bisretinoids are in the acidic environment of RPE phagolysosomes converted to bisretinoid pyridinium compound A2E and related bisretinoids [54,69,70,71,72,73,74].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“ABCA4 dysfunction leads to the accumulation of vitamin A derivatives and toxic compounds, as they cannot be efficiently removed from the photoreceptor outer segment.”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“In STGD1, cone degeneration is more severe and occurs before rod degeneration [69,94].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
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“The latter are insoluble, have a tendency to aggregate and accumulate as lipofuscin deposits in the RPE cells, compromising RPE function and leading to cell death.”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
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“But this process could be facilitated by ATP-dependent transporters such as ABCA476,485−487 or the channel-like property of STRA6.488−492”
From Chemistry of the Retinoid (Visual) Cycle (2014) · cites this paper as [487]
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“The connection between delayed all-trans-retinal clearance, lipofuscin buildup, and retinal degeneration is exemplified by Stargardt disease, a human condition in which juvenile macular degeneration is caused by mutations in both alleles of the ABCA4 gene.487,545”
From Chemistry of the Retinoid (Visual) Cycle (2014) · cites this paper as [487]
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“Through this process, a new membrane is added at the base of the outer segments while aged outer segment ends are removed by shedding and phagocytosis by adjacent RPE cells [69].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
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“Lipofuscin is an autofluorescent cellular waste product that compromises the function and viability of RPE cells and ultimately results in photoreceptor degeneration and a loss of vision [54,69,73,74,75].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
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“Trapped vitamin A derivatives and toxic compounds can react nonenzymatically, leading to the formation of toxic bisretinoids.”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
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“Upon phagocytosis of outer segments by adjacent RPE cells, the bisretinal compounds can be hydrolyzed by lysosomal enzymes to highly toxic metabolite A2E.”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [69]
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Cites
Comparative Protein Modelling by Satisfaction of Spatial Restraints
Šali, A., & Blundell, T. L. (1993) · Journal of Molecular Biology · doi:10.1006/jmbi.1993.1626 · Cited by 12,977
ABC Transporters: From Microorganisms to Man
Higgins, C. F. (1992) · Annual Review of Cell Biology · doi:10.1146/annurev.cb.08.110192.000435 · Cited by 3,985
Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis
Maguire, A. M., Simonelli, F., Pierce, E. A., Pugh, E. N., Mingozzi, F., Bennicelli, J., Banfi, S., Marshall, K. A., Testa, F., Surace, E. M., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802315 · Cited by 2,145
Effect of gene therapy on visual function in Leber’s congenital amaurosis
Bainbridge, J. W. B., Smith, A. J., Barker, S. S., Robbie, S., Henderson, R., Balaggan, K., Viswanathan, A., Holder, G. E., Stockman, A., Tyler, N., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802268 · Cited by 1,924
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
Brooks-Wilson, A., Marcil, M., Clee, S. M., Zhang, L.-H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J. A., Molhuizen, H. O. F., et al. (1999) · Nature Genetics · doi:10.1038/11905 · Cited by 1,687
Berge, K. E., Tian, H., Graf, G. A., Yu, L., Grishin, N. V., Schultz, J. R., Kwiterovich, P. O., Shan, B., Barnes, R., & Hobbs, H. H. (2000) · Science · doi:10.1126/science.290.5497.1771 · Cited by 1,645
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease
Bodzioch, M., Orsó, E., Klucken, J., Langmann, T., Böttcher, A., Diederich, W., Drobnik, W., Barlage, S., Büchler, C., Porsch-Özcürümez, M., et al. (1999) · Nature Genetics · doi:10.1038/11914 · Cited by 1,512
Allikmets, R., Singh, N., Sun, H., Shroyer, N. F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A., et al. (1997) · Nature Genetics · doi:10.1038/ng0397-236 · Cited by 1,435
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1
Rust, S., Rosier, M., Funke, H., Real, J., Amoura, Z., Piette, J.-C., Deleuze, J.-F., Brewer, H. B., Duverger, N., Denèfle, P., et al. (1999) · Nature Genetics · doi:10.1038/11921 · Cited by 1,433
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
Mosser, J., Douar, A.-M., Sarde, C.-O., Kioschis, P., Feil, R., Moser, H., Poustka, A.-M., Mandel, J.-L., & Aubourg, P. (1993) · Nature · doi:10.1038/361726a0 · Cited by 1,202
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- Oram, 2002, ATP-binding cassette transporter A1 and cholesterol trafficking, Curr. Opin. Lipidol., 13, 373, 10.1097/00041433-200208000-00004 · DOI
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Nociari, M., Kiss, S., & Rodriguez-Boulan, E. J. (2017) · InTech eBooks · doi:10.5772/intechopen.69304 · Cited by 11
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Layer, P. G., Araki, M., & Vogel‐Höpker, A. (2010) · Expert Review of Ophthalmology · doi:10.1586/eop.10.42 · Cited by 9
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Utz, V. M., Chappelow, A. V., Marino, M. J., Beight, C. D., Sturgill-Short, G. M., Pauer, G. J. T., Crowe, S., Hagstrom, S. A., & Traboulsi, E. I. (2013) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2013.07.008 · Cited by 10
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Metadata
- Authors
- Molday, R. S., Zhong, M., & Quazi, F.
- Affiliations
- University of British Columbia (CA)
- Corresponding author
- Molday, Robert S.
- Venue
- Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
- Publisher
- Elsevier BV
- Published
- 2009-07
- Volume
- 1791
- Issue
- 7
- Pages
- 573-583
- ISSN
- 1388-1981 (ISSN-L)
- PMC
- PMC2746242
- OpenAlex
- W2031287535
- Cited by
- 182
- References
- 131
- Citations by year
- 2026: 5 · 2025: 7 · 2024: 7 · 2023: 6 · 2022: 11 · 2021: 11 · 2020: 13 · 2019: 22 · 2018: 15 · 2017: 8 · 2016: 9 · 2015: 11 · 2014: 5 · 2013: 7 · 2012: 11
- FWCI
- 1.15
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Macula Vision Research Foundation
- National Eye Institute (EY02422, R01EY002422)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
- Keywords
- ABCA4, ABC transporters, lipid transport, photoreceptors, retinal degeneration, cone-rod dystrophy, retinitis pigmentosa, ABCA4 mutations
- MeSH terms
- Amino Acid Sequence, Animals, Biological Transport, Humans, Macular Degeneration, Molecular Sequence Data, Mice, Knockout, ATP-Binding Cassette Transporters, Lipid Metabolism, Mice
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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