Cited by 82Retinal Development and DisordersRetinal Diseases and TreatmentsRetinoids in leukemia and cellular processes

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Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration

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Molday, Robert S., Zhang, Kang·2010·Progress in Lipid Research

DOI 10.1016/j.plipres.2010.07.002PMC PMC2946192

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Abstract

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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Background
In vivo measurement of lipofuscin in Stargardt's disease--Fundus flavimaculatus.
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Background
Immunocytochemical localization of a large intrinsic membrane protein to the incisures and margins of frog rod outer segment disks.
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Macular degeneration: recent advances and therapeutic opportunities
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Cloning of a human cDNA encoding a novel enzyme involved in the elongation of long-chain polyunsaturated fatty acids
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Rad50/SMC proteins and ABC transporters: unifying concepts from high-resolution structures
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Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy
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Biosynthetic Studies of A2E, a Major Fluorophore of Retinal Pigment Epithelial Lipofuscin
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“These compounds react to form the diretinoid compound A2PE in disc membranes.”
BackgroundInfluential
Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus.
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Naturally Occurring Mutations in the Largest Extracellular Loops of ABCA1 Can Disrupt Its Direct Interaction with Apolipoprotein A-I
Fitzgerald, M. L., Morris, A. L., Rhee, J. S., Andersson, L. P., Mendez, A. J., & Freeman, M. W. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m204996200 · Cited by 209 · cited 2×
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Identification and Characterization of All-trans-retinol Dehydrogenase from Photoreceptor Outer Segments, the Visual Cycle Enzyme That Reduces All-trans-retinal to All-trans-retinol
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Novel Lipogenic Enzyme ELOVL7 Is Involved in Prostate Cancer Growth through Saturated Long-Chain Fatty Acid Metabolism
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Lipids of ocular tissues. 6. Phospholipids of bovine rod outer segments
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Biochemical defects in ABCR protein variants associated with human retinopathies
Sun, H., Smallwood, P. M., & Nathans, J. (2000) · Nature Genetics · doi:10.1038/79994 · Cited by 203 · cited 9×
“To get around this problem, detergent solubilized ABCA4 was purified from either rod outer segment membranes or transfected cells by immunoaffinity chromatography and reconstituted into lipid vesicles for analysis of ATP hydrolysis activity [23,113,114,117].”
BackgroundMethodInfluential
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration
Stone, E. M., Webster, A. R., Vandenburgh, K., Streb, L. M., Hockey, R. R., Lotery, A. J., & Sheffield, V. C. (1998) · Nature Genetics · doi:10.1038/3798 · Cited by 197 · cited 7×
“In recent years, significant progress has been made in identifying genetic variants that increase one's risk for developing AMD.”
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How vision begins: An odyssey
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“This leads to the G-protein activation of phosphodiesterase resulting in a decrease in cGMP concentration, closure of cGMP-gated channels in the plasma membrane, and a hyperpolarization of the photoreceptor cell [134,135].”
Background
Accelerated Accumulation of Lipofuscin Pigments in the RPE of a Mouse Model for ABCA4-Mediated Retinal Dystrophies following Vitamin A Supplementation
Radu, R. A., Yuan, Q., Hu, J., Peng, J. H., Lloyd, M., Nusinowitz, S., Bok, D., & Travis, G. H. (2008) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.07-1470 · Cited by 188 · cited 1×
“This may be due an increase in the formation of A2E epoxides or oxiranes [131,132] in the absence of pigmentation.”
Background
ABCA4 disease progression and a proposed strategy for gene therapy
Cideciyan, A. V., Swider, M., Aleman, T. S., Tsybovsky, Y., Schwartz, S. B., Windsor, E. A. M., Roman, A. J., Sumaroka, A., Steinberg, J. D., Jacobson, S. G., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddn421 · Cited by 186 · cited 1×
“In some instances Stargardt disease can progress to cone-rod dystrophy [53,58].”
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Nucleoside triphosphate-binding proteins: different scaffolds to achieve phosphoryl transfer
Vetter, I. R., & Wittinghofer, A. (1999) · Quarterly Reviews of Biophysics · doi:10.1017/s0033583599003480 · Cited by 184
Resonance Raman Evidence for an Fe-O-Fe Center in Stearoyl-ACP Desaturase. Primary Sequence Identity with Other Diiron-Oxo Proteins
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ABC A-subfamily transporters: Structure, function and disease
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“The ABCA subfamily of ABC transporters consists of 12 members [76].”
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The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration
Molday, R. S., Zhong, M., & Quazi, F. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2009.02.004 · Cited by 182
Self-citation
Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: A model for macular degeneration
Karan, G., Lillo, C., Yang, Z., Cameron, D. J., Locke, K. G., Zhao, Y., Thirumalaichary, S., Li, C., Birch, D. G., Vollmer-Snarr, H. R., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0407698102 · Cited by 182
Self-citation
Differences in the protein composition of bovine retinal rod outer segment disk and plasma membranes isolated by a ricin-gold-dextran density perturbation method.
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“The rim region of the discs in rod and cone outer segments contains a distinct set of membrane proteins [95].”
BackgroundSelf-citation
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1
Kaplan, J., Gerber, S., Larget‐Piet, D., Rozet, J., Dollfus, H., Dufier, J., Odent, S., Postel-Vinay, A., Janin, N., Briard, M., et al. (1993) · Nature Genetics · doi:10.1038/ng1193-308 · Cited by 181 · cited 1×
“Extensive clinical and genetic analyses have shown that autosomal recessive Stargardt disease and fundus flavimaculatus are variations of the same disease, typically caused by different mutations in the same gene [28,45,46].”
Background
Localization, purification, and functional reconstitution of the P4-ATPase Atp8a2, a phosphatidylserine flippase in photoreceptor disc membranes
Coleman, J. A., Kwok, M. C. M., & Molday, R. S. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.047415 · Cited by 181 · cited 1×
“The ATPase activity of ABCA4 cannot be directly measured in isolated photoreceptor outer segment membranes due to the low enzymatic activity of ABCA4 and the high activity of other ATPases in these preparations [23,116].”
BackgroundSelf-citation
N-Retinylidene-phosphatidylethanolamine Is the Preferred Retinoid Substrate for the Photoreceptor-specific ABC Transporter ABCA4 (ABCR)
Beharry, S., Zhong, M., & Molday, R. S. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m405216200 · Cited by 174 · cited 3×
“Addition of ATP (or GTP) to ABCA4 containing bound N-ret-PE resulted in the dissociation of substrate from the protein [113,122].”
BackgroundSelf-citation
Membrane Topology of the ATP Binding Cassette Transporter ABCR and Its Relationship to ABC1 and Related ABCA Transporters
Bungert, S., Molday, L. L., & Molday, R. S. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m101902200 · Cited by 173 · cited 15×
“Of the twelve members in the human ABCA subfamily, three ABCA transporters (ABCA1, ABCA3, ABCA12) in addition to ABCA4 have been linked to inherited diseases associated with defective transport of lipids [76].”
BackgroundMethodInfluentialSelf-citation
The A‐loop, a novel conserved aromatic acid subdomain upstream of the Walker A motif in ABC transporters, is critical for ATP binding
Ambudkar, S. V., Kim, I., Xia, D., & Sauna, Z. E. (2005) · FEBS Letters · doi:10.1016/j.febslet.2005.12.051 · Cited by 171 · cited 1×
“These include an A-loop with a conserved aromatic amino acid (phenylalanine in NBD1 and tyrosine in NBD2) involved in stacking interactions with the adenine ring of ATP [106,107], flexible Q-loop containing a conserved glutamine and involved in the transmission of conformational changes between the NBDs and the TMD [1…”
Background
The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)
Azarian, S. M., & Travis, G. H. (1997) · FEBS Letters · doi:10.1016/s0014-5793(97)00517-6 · Cited by 170
ABCA3 inactivation in mice causes respiratory failure, loss of pulmonary surfactant, and depletion of lung phosphatidylglycerol
Fitzgerald, M. L., Xavier, R. J., Haley, K. J., Welti, R., Goss, J. L., Brown, C. E., Zhuang, D. Z., Bell, S. A., Lu, N., McKee, M. L., et al. (2006) · Journal of Lipid Research · doi:10.1194/jlr.m600449-jlr200 · Cited by 170
Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration
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“This may be due an increase in the formation of A2E epoxides or oxiranes [131,132] in the absence of pigmentation.”
Background
Clinical Features of a Stargardt-Like Dominant Progressive Macular Dystrophy With Genetic Linkage to Chromosome 6q
Stone, E. M. (1994) · Archives of Ophthalmology · doi:10.1001/archopht.1994.01090180063036 · Cited by 167 · cited 1×
“Genetically distinct autosomal dominant forms of Stargardt-like disease have been mapped to chromosome 6q (STGD3; MIM #600110) and chromosome 4q (STGD4) [157,161].”
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The lipofuscin fluorophore A2E perturbs cholesterol metabolism in retinal pigment epithelial cells
Lakkaraju, A., Finnemann, S. C., & Rodriguez-Boulan, E. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0702504104 · Cited by 162
Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient mice
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“This is consistent with the proposed role of ELOVL4 in the elongation of very long chain fatty acids [180,181].”
BackgroundResult
Fundus Flavimaculatus
Carr, R. E. (1965) · Archives of Ophthalmology · doi:10.1001/archopht.1965.00970040165007 · Cited by 159
Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene.
Bernstein, P. S., Tammur, J., Singh, N., Hutchinson, A. A., Dixon, M., Pappas, C. M., Zabriskie, N. A., Zhang, K., Petrukhin, K. E., Leppert, M., et al. (2001) · PubMed · Cited by 158
Self-citation
Stargardt's Disease and Fundus Flavimaculatus
Noble, K. G., & Carr, R. E. (1979) · Archives of Ophthalmology · doi:10.1001/archopht.1979.01020020023005 · Cited by 157
An update on the genetics of age-related macular degeneration
Scholl, H. P. N., Fleckenstein, M., Issa, P. C., Keilhauer, C. N., Holz, F. G., & Weber, B. H. F. (2007) · PubMed Central · doi:10.5283/epub.35844 · Cited by 156
The Age Lipid A2E and Mitochondrial Dysfunction Synergistically Impair Phagocytosis by Retinal Pigment Epithelial Cells
Vives-Bauza, C., Anand, M., Shirazi, A. K., Magrane, J., Gao, J., Vollmer-Snarr, H. R., Manfredi, G., & Finnemann, S. C. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m800706200 · Cited by 155
Phospholipid species containing long and very long polyenoic fatty acids remain with rhodopsin after hexane extraction of photoreceptor membranes
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“Earlier studies have indicated that C28–C36 containing phospholipids bind tightly to rhodopsin [202].”
Background
Very long chain (C24 to C36) polyenoic fatty acids of the n-3 and n-6 series in dipolyunsaturated phosphatidylcholines from bovine retina.
Aveldaño, M. I., & Sprecher, H. W. (1987) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)75768-8 · Cited by 145 · cited 1×
“They comprise as much as 10 mol % of the fatty acids of rod and cone outer segment membranes [191,193,201].”
Background
The all-trans -retinal dimer series of lipofuscin pigments in retinal pigment epithelial cells in a recessive Stargardt disease model
Kim, S. R., Jang, Y. P., Jockusch, S., Fishkin, N. E., Turro, N. J., & Sparrow, J. R. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0708714104 · Cited by 145
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Distinct spatio‐temporal expression of ABCA and ABCG transporters in the developing and adult mouse brain
Tachikawa, M., Watanabe, M., Hori, S., Fukaya, M., Ohtsuki, S., Asashima, T., & Terasaki, T. (2005) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2005.03369.x · Cited by 144
A novel group of very long chain polyenoic fatty acids in dipolyunsaturated phosphatidylcholines from vertebrate retina
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“They comprise as much as 10 mol % of the fatty acids of rod and cone outer segment membranes [191,193,201].”
Background
Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier function, and neonatal survival
Cameron, D. J., Tong, Z., Yang, Z., Kaminoh, J., Kamiyah, S., Chen, H., Zeng, J., Chen, Y., Luo, L., & Zhang, K. (2007) · International Journal of Biological Sciences · doi:10.7150/ijbs.3.111 · Cited by 142 · cited 2×
“This is consistent with the proposed role of ELOVL4 in the elongation of very long chain fatty acids [180,181].”
BackgroundResultSelf-citation
Complement Activation by Bisretinoid Constituents of RPE Lipofuscin
Zhou, J., Kim, S. R., Westlund, B. S., & Sparrow, J. R. (2009) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.08-2868 · Cited by 139 · cited 1×
“A2E has also been shown to activate the complement system possibly contributing to the pathogenesis of Stargardt disease as well as age-related macular degeneration [151].”
Background
Visual Acuity Loss in Patents with Stargardt's Macular Dystrophy
Fishman, G. A., Farber, M. D., Patel, B. S., & Derlacki, D. J. (1987) · Ophthalmology · doi:10.1016/s0161-6420(87)33533-x · Cited by 133
ABCR unites what ophthalmologists divide(s)
van Driel, M. A., Maugeri, A., Klevering, B. J., Hoyng, C. B., & Cremers, F. P. M. (1998) · Ophthalmic Genetics · doi:10.1076/opge.19.3.117.2187 · Cited by 130
The Effect of Lipid Environment and Retinoids on the ATPase Activity of ABCR, the Photoreceptor ABC Transporter Responsible for Stargardt Macular Dystrophy
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“To get around this problem, detergent solubilized ABCA4 was purified from either rod outer segment membranes or transfected cells by immunoaffinity chromatography and reconstituted into lipid vesicles for analysis of ATP hydrolysis activity [23,113,114,117].”
BackgroundInfluentialSelf-citation
Characterization of the ABCA Transporter Subfamily: Identification of Prokaryotic and Eukaryotic Members, Phylogeny and Topology
Peelman, F., Labeur, C., Vanloo, B., Roosbeek, S., Devaud, C., Duverger, N., Denèfle, P., Rosier, M., Vandekerckhove, J. S., & Rosseneu, M. (2002) · Journal of Molecular Biology · doi:10.1016/s0022-2836(02)01105-1 · Cited by 129 · cited 1×
“Homologues of mammalian ABCA proteins have been identified in eukaryotic and prokaryotic organisms suggesting that ABCA genes have evolved from a common primordial gene [79].”
Background
Simple and Complex ABCR: Genetic Predisposition to Retinal Disease
Allikmets, R. (2000) · The American Journal of Human Genetics · doi:10.1086/303100 · Cited by 128 · cited 7×
“In recent years, significant progress has been made in identifying genetic variants that increase one's risk for developing AMD.”
BackgroundInfluential
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
Briggs, C. E., Rucinski, D., Rosenfeld, P. J., Hirose, T., Berson, E. L., & Dryja, T. P. (2001) · PubMed · Cited by 124
A Ligand Channel through the G Protein Coupled Receptor Opsin
Hildebrand, P. W., Scheerer, P., Park, J. H., Choe, H.-W., Piechnick, R., Ernst, O. P., Hofmann, K. P., & Heck, M. (2009) · PLoS ONE · doi:10.1371/journal.pone.0004382 · Cited by 124 · cited 1×
“Recent X-ray crystallographic studies suggest that all-trans retinal is subsequently released from its binding pocket through an opening between transmembrane helices TM1 and TM7 of opsin [139, 140].”
Background
Mammalian fatty acid elongases
Jump, D. B. (2009) · Methods in molecular biology · doi:10.1007/978-1-60761-322-0_19 · Cited by 123
Proteomics of Photoreceptor Outer Segments Identifies a Subset of SNARE and Rab Proteins Implicated in Membrane Vesicle Trafficking and Fusion
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“ABCA4 is a relatively abundant membrane glycoprotein in photoreceptor outer segments comprising approximately 2–4% of the total rod outer segment (ROS) membrane protein by weight [48,92,98].”
BackgroundSelf-citation
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial
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Lipid to Protein Chromophore Transfer in the Photolysis of Visual Pigments
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“However, it is known that a fraction of all-trans retinal released from rhodopsin reversibly reacts with PE in the disc membrane to form N-ret-PE [142,143].”
Background
Mechanisms of Opsin Activation
Buczyłko, J., Saari, J. C., Crouch, R. K., & Palczewski, K. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.34.20621 · Cited by 111
Autosomal-dominant Fundus Flavimaculatus
Lopez, P. F., Maumenee, I. H., de la Cruz, Z. C., & Green, W. R. (1990) · Ophthalmology · doi:10.1016/s0161-6420(90)32508-3 · Cited by 110
Fundus Flavimaculatus and Stargardt's Disease
Hadden, O. B., & Gass, J. D. M. (1976) · American Journal of Ophthalmology · doi:10.1016/0002-9394(76)90539-0 · Cited by 108 · cited 1×
“Extensive clinical and genetic analyses have shown that autosomal recessive Stargardt disease and fundus flavimaculatus are variations of the same disease, typically caused by different mutations in the same gene [28,45,46].”
Background
Review of Genetics in Age Related Macular Degeneration
Montezuma, S. R., Sobrin, L., & Seddon, J. M. (2007) · Seminars in Ophthalmology · doi:10.1080/08820530701745140 · Cited by 108
Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4.
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ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies
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The ATP-binding cassette family: a structural perspective
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“When the two NBDs dimerize during a transport cycle of ABC transporters, the ABC signature motif of one NBD interacts with the bound ATP on the opposing NBD [71,72].”
Background
Natural History of Phenotypic Changes in Stargardt Macular Dystrophy
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Intrafamilial variation of phenotype in Stargardt macular dystrophy-Fundus flavimaculatus.
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ATP-binding cassette transporter ABCA4: Molecular properties and role in vision and macular degeneration
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Very Long-chain Polyunsaturated Fatty Acids Are the Major Acyl Groups of Sphingomyelins and Ceramides in the Head of Mammalian Spermatozoa
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BackgroundResult
Hereditary retinal disease
Goodwin, P. L. (2008) · Current Opinion in Ophthalmology · doi:10.1097/icu.0b013e3282fc27fc · Cited by 69
A Stargardt disease‐3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32–C36 acyl phosphatidylcholines
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Background
Stargardt's Macular Dystrophy
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Self-citation
Detection of a homologous series of C26-C38 polyenoic fatty acids in the brain of patients without peroxisomes (Zellweger's syndrome)
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Role of the C Terminus of the Photoreceptor ABCA4 Transporter in Protein Folding, Function, and Retinal Degenerative Diseases
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BackgroundMethodInfluentialSelf-citation
Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes.
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The Conserved Tyrosine Residues 401 and 1044 in ATP Sites of Human P-Glycoprotein Are Critical for ATP Binding and Hydrolysis: Evidence for a Conserved Subdomain, the A-Loop in the ATP-Binding Cassette
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Background
Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients
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“In contrast, the ABCA4D24 mutant lacking the C-terminal 24 amino acids and associated with a mild form of Stargardt disease [155] displayed essentially normal N-retPE binding, a small reduction in retinal stimulated ATPase activity and intracellular vesicular localization characteristic of wild-type ABCA4 implying rel…”
Background
Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14
Edwards, A. O., Miedziak, A. I., Vrabec, T. R., Verhoeven, J., Acott, T. S., Weleber, R. G., & Donoso, L. A. (1999) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(98)00331-6 · Cited by 54
The Natural History of Stargardt Disease with Specific Sequence Mutation in the ABCA4 Gene
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Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein
Ambasudhan, R., Wang, X., Jablonski, M. M., Thompson, D. A., Lagali, P. S., WONG, P. W. K., Sieving, P. A., & Ayyagari, R. (2003) · Genomics · doi:10.1016/j.ygeno.2003.10.004 · Cited by 54
A2E, A Pigment of RPE Lipofuscin, is Generated from the Precursor, A2PE by a Lysosomal Enzyme Activity
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BackgroundInfluential
Autosomal Dominant Stargardt-Like Macular Dystrophy
Donoso, L. A., Edwards, A. O., Frost, A. T., Vrabec, T. R., Stone, E. M., Hageman, G. S., & Perski, T. (2001) · Survey of Ophthalmology · doi:10.1016/s0039-6257(01)00251-x · Cited by 50
Functional Interaction between the Two Halves of the Photoreceptor-specific ATP Binding Cassette Protein ABCR (ABCA4)
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Self-citation
Retinal Function in Stargardt's Disease and Fundus Flavimaculatus
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Formation of Two Intramolecular Disulfide Bonds Is Necessary for ApoA-I-dependent Cholesterol Efflux Mediated by ABCA1
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“Of the twelve members in the human ABCA subfamily, three ABCA transporters (ABCA1, ABCA3, ABCA12) in addition to ABCA4 have been linked to inherited diseases associated with defective transport of lipids [76].”
BackgroundInfluential
Elovl4 5-bp deletion knock-in mouse model for Stargardt-like macular degeneration demonstrates accumulation of ELOVL4 and lipofuscin
Vasireddy, V., Jablonski, M. M., Khan, N. W., Wang, X., Sahu, P., Sparrow, J. R., & Ayyagari, R. (2009) · Experimental Eye Research · doi:10.1016/j.exer.2009.07.021 · Cited by 47
A2E, a Fluorophore of RPE Lipofuscin: Can It Cause RPE Degeneration?
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Haploinsufficiency Is Not the Key Mechanism of Pathogenesis in a Heterozygous Elovl4 Knockout Mouse Model of STGD3 Disease
Raz-Prag, D., Ayyagari, R., Fariss, R. N., Mandal, M. N. A., Vasireddy, V., Majchrzak, S. F., Webber, A. L., Bush, R. A., Salem, N., Petrukhin, K. E., et al. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-1527 · Cited by 46 · cited 2×
“In contrast mice heterozygous for Elovl4 deletion showed reduced Elovl4 RNA expression, but developed normally and had relatively normal ERGs and only minimal morphological abnormalities in their photoreceptors [182,183].”
Background
Evolutionarily Conserved ELOVL4 Gene Expression in the Vertebrate Retina
Lagali, P. S., Liu, J., Ambasudhan, R., Kakuk, L. E., Bernstein, S. L., Seigel, G. M., WONG, P. W. K., & Ayyagari, R. (2003) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.02-0991 · Cited by 43 · cited 1×
“ELOVL4 proteins are highly conserved with the human protein being over 90% identical to mouse and bovine orthologues and 66% identical to the zebrafish protein [176].”
Background
Polyunsaturated very-long-chain C28-C36 fatty acids and retinal physiology
McMahon, A., & Kędzierski, W. (2009) · British Journal of Ophthalmology · doi:10.1136/bjo.2008.149286 · Cited by 43
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Stargardt's Disease and the ABCR Gene
Westerfeld, C. B., & Mukai, S. (2008) · Seminars in Ophthalmology · doi:10.1080/08820530701745249 · Cited by 39 · cited 1×
“Fundus flavimaculatus is generally used to describe a late onset, more mild form of Stargardt disease [30,47].”
Background
DHA does not protect ELOVL4 transgenic mice from retinal degeneration.
Li, F., Marchette, L. D., Brush, R. S., Elliott, M. H., Le, Y.-Z., Henry, K., Anderson, A. G., Zhao, C., Sun, X., Zhang, K., et al. (2009) · PubMed Central · Cited by 37
Self-citation
Synthesis of very long chain (up to 36 carbon) tetra, penta and hexaenoic fatty acids in retina
Rotstein, N. P., & Aveldaño, M. I. (1988) · Biochemical Journal · doi:10.1042/bj2490191 · Cited by 36
Elovl4 haploinsufficiency does not induce early onset retinal degeneration in mice
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Self-citation
Retinal‐specific ATP‐binding cassette transporter (ABCR/ABCA4) is expressed at the choroid plexus in rat brain
Bhongsatiern, J., Ohtsuki, S., Tachikawa, M., Hori, S., & Terasaki, T. (2005) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2004.02941.x · Cited by 33 · cited 1×
“ABCA4 protein and mRNA expression has also been found in the choroid plexus of rats, although the role of ABCA4 in this tissue remains to be determined [90,91].”
Background
Structural features of the terminal loop region of frog retinal rod outer segment disk membranes: III. Implications of the terminal loop complex for disk morphogenesis, membrane fusion, and cell surface interactions
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Changes in Lipids Containing Long- and Very Long-Chain Polyunsaturated Fatty Acids in Cryptorchid Rat Testes1
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Nucleotide Binding Domain 1 of the Human Retinal ABC Transporter Functions as a General Ribonucleotidase
Biswas, E. E. (2001) · Biochemistry · doi:10.1021/bi0106686 · Cited by 27 · cited 1×
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Enhancement of Opsin Activity by all-trans-retinal
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The C-Terminal Nucleotide Binding Domain of the Human Retinal ABCR Protein Is an Adenosine Triphosphatase
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Recovery of Rod Photoresponses in ABCR-Deficient Mice
Pawar, A. S., Qtaishat, N. M., Little, D. M., & Pepperberg, D. R. (2008) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.07-1499 · Cited by 19
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Interaction of the Nucleotide Binding Domains and Regulation of the ATPase Activity of the Human Retina Specific ABC Transporter, ABCR
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Research works printed but not linked: 1

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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Authors: Molday, R. S., & Zhang, K.
Affiliations: University of British Columbia (CA)
University of California San Diego (US)
Corresponding author: Molday, Robert S.
ORCID: Molday, Robert S.
Zhang, Kang
Venue: Progress in Lipid Research
Publisher: Elsevier BV
Published: 2010-10
Volume: 49
Issue: 4
Pages: 476-492
ISSN: 0163-7827 (ISSN-L)
DOI: 10.1016/j.plipres.2010.07.002
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
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
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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Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration

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