The DOI matches its Crossref record; 207 of the 213 references it cites were found in a registry or an index.
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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Items 201–207 of 207
Stenirri, S., Battistella, S., Fermo, I., Manitto, M. P., Martina, E., Brancato, R., Ferrari, M., & Cremonesi, L. (2006) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm.2006.116 · Cited by 16 · cited 1×
“The ABCA4D30 lacking the C-terminal 30 amino acids and associated with cone-rod dystrophy [154] showed a significant decrease in protein expression, complete loss in both N-ret-PE binding and retinalstimulated ATPase activity, and retention in the endoplasmic reticulum indicative of severe protein misfolding.”
BackgroundOccurrence of long and very long polyenoic fatty acids of the n‐9 series in rat spermatozoa
Aveldaño, M. I., Rotstein, N. P., & Vermouth, N. T. (1992) · Lipids · doi:10.1007/bf02536023 · Cited by 16
Aveldaño, M. I. (1992) · Advances in experimental medicine and biology · doi:10.1007/978-1-4615-3426-6_19 · Cited by 15 · cited 1×
“They comprise as much as 10 mol % of the fatty acids of rod and cone outer segment membranes [191,193,201].”
BackgroundColor vision in Stargardt's disease
M�ntyj�rvi, M., & Tuppurainen, K. (1992) · International Ophthalmology · doi:10.1007/bf00918432 · Cited by 15
Bringing the genetics of macular degeneration into focus
Haines, J. L., Spencer, K. M., & Pericak-Vance, M. A. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0708151104 · Cited by 15
Evolution of ABCA4 Proteins in Vertebrates
Yatsenko, A. N., Wiszniewski, W. K., Zaremba, C. M., Jamrich, M., & Lupski, J. R. (2005) · Journal of Molecular Evolution · doi:10.1007/s00239-004-0118-4 · Cited by 11 · cited 1×
“Comparative sequence analysis of ABCA4 from various species supports an evolutionary model in which the full-length transporter evolved from the fusion of two distinct half-transporter progenitors [97].”
BackgroundNew dimensions in macular dystrophies
Humphries, P., Kenna, P. F., & Farrar, G. J. (1994) · Nature Genetics · doi:10.1038/ng1294-315 · Cited by 7 · cited 1×
“Early onset or juvenile MD is a set of disorders caused by a mutation in a given gene and therefore they are referred to as monogenic diseases [9,10].”
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6 of the 213 references couldn’t be matched to a known paper.
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- Cideciyan, 2008, ABCA4 Disease progression and a proposed strategy for gene therapy, Hum Mol Genet, 18, 931, 10.1093/hmg/ddn421 · DOI · Paper page
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Chemistry of the Retinoid (Visual) Cycle
Kiser, P. D., Golczak, M., & Palczewski, K. (2014) · Chemical Reviews · doi:10.1021/cr400107q · Cited by 353
Effective delivery of large genes to the retina by dual AAV vectors
Trapani, I., Colella, P., Sommella, A., Iodice, C., Cesi, G., de Simone, S., Marrocco, E., Rossi, S., Giunti, M., Palfi, A., et al. (2014) · EMBO Molecular Medicine · doi:10.1002/emmm.201302948 · Cited by 269
Molday, R. S., & Moritz, O. L. (2015) · Journal of Cell Science · doi:10.1242/jcs.175687 · Cited by 235
“High levels of bisretinoids within lipofuscin deposits are found in individuals with Stargardt macular degeneration linked to mutations in the gene encoding ABCA4 as well as in Abca4-knockout mice (Allikmets et al., 1997; Mata et al., 2000; Molday and Zhang, 2010; Sparrow et al., 2012).”
BackgroundSelf-citationRecessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia
Aldahmesh, M. A., Mohamed, J. Y., Alkuraya, H., Verma, I. C., Puri, R. D., Alaiya, A. A., Rizzo, W. B., & Alkuraya, F. S. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.10.011 · Cited by 191
“The identification of ELOVL4mutations in patients with the atypical juvenile form of macular degeneration (SGDT3) sparked interest in the role of VLCFAs in the physiology of the retina.(22,23) Using several mouse models in which the heterozygous-dominant SGDT3 mutation was introduced by genetic knockin made it possibl…”
BackgroundKohno, H., Chen, Y., Kevany, B. M., Pearlman, E. M., Miyagi, M., Maeda, T., Palczewski, K., & Maeda, A. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.448712 · Cited by 180
“AMD is the leading cause of legal blindness in industrialized countries (1), and Stargardt disease is the most common form of juvenile macular degeneration (2).”
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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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