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Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration
Open accessAbstract
Stargardt disease is a common inherited macular degeneration characterized by a significant loss in central vision in the first or second decade of life, bilateral atrophic changes in the central retina associated with degeneration of photoreceptors and underlying retinal pigment epithelial cells, and the presence of yellow flecks extending from the macula. Autosomal recessive Stargardt disease, the most common macular dystrophy, is caused by mutations in the gene encoding ABCA4, a photoreceptor ATP binding cassette (ABC) transporter. Biochemical studies together with analysis of abca4 knockout mice and Stargardt patients have implicated ABCA4 as a lipid transporter that facilitates the removal of potentially toxic retinal compounds from photoreceptors following photoexcitation. An autosomal dominant form of Stargardt disease also known as Stargardt-like dystrophy is caused by mutations in a gene encoding ELOVL4, an enzyme that catalyzes the elongation of very long-chain fatty acids in photoreceptors and other tissues. This review focuses on the molecular characterization of ABCA4 and ELOVL4 and their role in photoreceptor cell biology and the pathogenesis of Stargardt disease.
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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 [486]
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BackgroundInfluentialAutosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication
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Evolutionary tuning of rhodopsin-mediated light protectionPreprint
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Metadata
- Authors
- Molday, R. S., & Zhang, K.
- Affiliations
- University of British Columbia (CA)
- University of California San Diego (US)
- Corresponding author
- Molday, Robert S.
- Venue
- Progress in Lipid Research
- Publisher
- Elsevier BV
- Published
- 2010-10
- Volume
- 49
- Issue
- 4
- Pages
- 476-492
- ISSN
- 0163-7827 (ISSN-L)
- PMC
- PMC2946192
- OpenAlex
- W2168030414
- Cited by
- 82
- References
- 213
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 9 · 2023: 2 · 2022: 4 · 2021: 5 · 2020: 2 · 2019: 5 · 2018: 3 · 2017: 4 · 2016: 3 · 2015: 7 · 2014: 9 · 2013: 11 · 2012: 8
- FWCI
- 0.73
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Progress in Lipid Research (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Canadian Institutes of Health Research (MT5822)
- 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
- Stargardt disease, ABCA4, ELOVL4, photoreceptors, very long chain fatty acids, macular degeneration, retinal pigment epithelium, pathogenesis
- MeSH terms
- Stargardt Disease, Amino Acid Sequence, Animals, Chromosomes, Human, Pair 6, Eye Proteins, Humans, Macular Degeneration, Membrane Proteins, Models, Biological, Molecular Sequence Data, Phosphatidylethanolamines, Retina, Retinoids, Molecular Structure, ATP-Binding Cassette Transporters, Chromosome Disorders, Lipid Metabolism
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