1. Hussain, G. et al. Role of cholesterol and sphingolipids in brain development and neurological diseases. Lipids Health Dis 18, 26 (2019).
2. Wainwright, P.E. Dietary essential fatty acids and brain function: a developmental perspective on mechanisms. Proc Nutr Soc 61, 61-69 (2002).
3. Mesa-Herrera, F., Taoro-González, L., Valdés-Baizabal, C., Diaz, M. & Marín, R. Lipid and Lipid Raft Alteration in Aging and Neurodegenerative Diseases: A Window for the Development of New Biomarkers. Int J Mol Sci 20 (2019).
4. Schneider, M. et al. Lipids in psychiatric disorders and preventive medicine. Neurosci Biobehav Rev 76, 336-362 (2017).
5. Ueda, K. ABC Proteins Protect the Human Body and Maintain Optimal Health. Bioscience Biotechnology and Biochemistry 75, 401-409 (2011).
6. Schneider, E. & Hunke, S. ATP-binding-cassette (ABC) transport systems: functional and structural aspects of the ATP-hydrolyzing subunits/domains. FEMS Microbiol Rev 22, 1-20 (1998).
7. Kim, W.S., Weickert, C.S. & Garner, B. Role of ATP-binding cassette transporters in brain lipid transport and neurological disease. Journal of Neurochemistry 104, 1145-1166 (2008).
8. Krimbou, L. et al. Molecular interactions between apoE and ABCA1: impact on apoE lipidation. Journal of Lipid Research 45, 839-848 (2004).
9. Wahrle, S.E. et al. ABCA1 is required for normal central nervous system ApoE levels and for lipidation of astrocyte-secreted apoE. Journal of Biological Chemistry 279, 40987-40993 (2004).
10. Tarr, P.T. & Edwards, P.A. ABCG1 and ABCG4 are coexpressed in neurons and astrocytes of the CNS and regulate cholesterol homeostasis through SREBP-2. Journal of Lipid Research 49, 169- 182 (2008).
11. Kim, W.S. et al. Role of ABCG1 and ABCA1 in regulation of neuronal cholesterol efflux to apolipoprotein E discs and suppression of amyloid-beta peptide generation. Journal of Biological Chemistry 282, 2851-2861 (2007).
12. Karten, B., Campenot, R.B., Vance, D.E. & Vance, J.E. Expression of ABCG1, but not ABCA1, correlates with cholesterol release by cerebellar astroglia. Journal of Biological Chemistry 281, 4049-4057 (2006).
13. Knight, H.M. et al. A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression. Am J Hum Genet 85, 833-846 (2009).
14. Martin, D.D., Robbins, M.E., Spector, A.A., Wen, B.C. & Hussey, D.H. The fatty acid composition of human gliomas differs from that found in nonmalignant brain tissue. Lipids 31, 1283-1288 (1996).
15. Aveldaño, M.I. & Bazán, N.G. Fatty acid composition and level of diacylglycerols and phosphoglycerides in brain and retina. Biochim Biophys Acta 296, 1-9 (1973).
16. Treen, M., Uauy, R.D., Jameson, D.M., Thomas, V.L. & Hoffman, D.R. Effect of docosahexaenoic acid on membrane fluidity and function in intact cultured Y-79 retinoblastoma cells. Arch Biochem Biophys 294, 564-570 (1992).
17. Horrocks, L.A. & Farooqui, A.A. Docosahexaenoic acid in the diet: its importance in maintenance and restoration of neural membrane function. Prostaglandins Leukotrienes and Essential Fatty Acids 70, 361-372 (2004).
18. Bazinet, R.P. & Layé, S. Polyunsaturated fatty acids and their metabolites in brain function and disease. Nat Rev Neurosci 15, 771-785 (2014).
19. Poirazi, P. & Mel, B.W. Impact of active dendrites and structural plasticity on the memory capacity of neural tissue. Neuron 29, 779-796 (2001).
20. Calderon, F. & Kim, H.Y. Docosahexaenoic acid promotes neurite growth in hippocampal neurons. Journal of Neurochemistry 90, 979-988 (2004).
21. Cao, D.H., Xue, R.H., Xu, J. & Liu, Z.L. Effects of docosahexaenoic acid on the survival and neurite outgrowth of rat cortical neurons in primary cultures. Journal of Nutritional Biochemistry 16, 538-546 (2005).
22. Koch, S. et al. Characterization of four lipoprotein classes in human cerebrospinal fluid. J Lipid Res 42, 1143-1151 (2001).
23. Vance, J.E. & Hayashi, H. Formation and function of apolipoprotein E-containing lipoproteins in the nervous system. Biochimica Et Biophysica Acta-Molecular and Cell Biology of Lipids 1801, 806-818 (2010).
24. Hayashi, H., Campenot, R.B., Vance, D.E. & Vance, J.E. Protection of neurons from apoptosis by apolipoprotein E-containing lipoproteins does not require lipoprotein uptake and involves activation of phospholipase Cgamma1 and inhibition of calcineurin. J Biol Chem 284, 29605- 29613 (2009).
25. Innerarity, T.L., Pitas, R.E. & Mahley, R.W. Binding of arginine-rich (E) apoprotein after recombination with phospholipid vesicles to the low density lipoprotein receptors of fibroblasts. J Biol Chem 254, 4186-4190 (1979).
26. Mauch, D.H. et al. CNS synaptogenesis promoted by glia-derived cholesterol. Science 294, 1354- 1357 (2001).
27. Pitas, R.E., Boyles, J.K., Lee, S.H., Foss, D. & Mahley, R.W. Astrocytes synthesize apolipoprotein E and metabolize apolipoprotein E-containing lipoproteins. Biochim Biophys Acta 917, 148-161 (1987).
28. Gong, J.S. et al. Apolipoprotein E (ApoE) isoform-dependent lipid release from astrocytes prepared from human ApoE3 and ApoE4 knock-in mice. J Biol Chem 277, 29919-29926 (2002).
29. Kaech, S. & Banker, G. Culturing hippocampal neurons. Nat Protoc 1, 2406-2415 (2006).
30. Bacskai, B.J., Xia, M.Q., Strickland, D.K., Rebeck, G.W. & Hyman, B.T. The endocytic receptor protein LRP also mediates neuronal calcium signaling via N-methyl-D-aspartate receptors. Proc Natl Acad Sci U S A 97, 11551-11556 (2000).
31. Matsuo, M., Campenot, R.B., Vance, D.E., Ueda, K. & Vance, J.E. Involvement of low-density lipoprotein receptor-related protein and ABCG1 in stimulation of axonal extension by apoE- containing lipoproteins. Biochimica Et Biophysica Acta-Molecular and Cell Biology of Lipids 1811, 31-38 (2011).
32. Hayashi, H., Campenot, R.B., Vance, D.E. & Vance, J.E. Glial lipoproteins stimulate axon growth of central nervous system neurons in compartmented cultures. Journal of Biological Chemistry 279, 14009-14015 (2004).
33. Ruiz, J. et al. The apoE isoform binding properties of the VLDL receptor reveal marked differences from LRP and the LDL receptor. J Lipid Res 46, 1721-1731 (2005).
34. Tooyama, I. et al. Subcellular localization of the low density lipoprotein receptor-related protein (alpha 2-macroglobulin receptor) in human brain. Brain Res 691, 235-238 (1995).
35. Bu, G., Maksymovitch, E.A., Nerbonne, J.M. & Schwartz, A.L. Expression and function of the low density lipoprotein receptor-related protein (LRP) in mammalian central neurons. J Biol Chem 269, 18521-18528 (1994).
36. Hayashi, H., Campenot, R.B., Vance, D.E. & Vance, J.E. Apolipoprotein E-containing lipoproteins protect neurons from apoptosis via a signaling pathway involving low-density lipoprotein receptor-related protein-1. J Neurosci 27, 1933-1941 (2007).
37. Herz, J. & Strickland, D.K. LRP: a multifunctional scavenger and signaling receptor. J Clin Invest 108, 779-784 (2001).
38. Herz, J., Clouthier, D.E. & Hammer, R.E. LDL receptor-related protein internalizes and degrades uPA-PAI-1 complexes and is essential for embryo implantation. Cell 71, 411-421 (1992).
39. Aigner, L. et al. Overexpression of the neural growth-associated protein GAP-43 induces nerve sprouting in the adult nervous system of transgenic mice. Cell 83, 269-278 (1995).
40. Teo, J.L., Ma, H., Nguyen, C., Lam, C. & Kahn, M. Specific inhibition of CBP/beta-catenin interaction rescues defects in neuronal differentiation caused by a presenilin-1 mutation. Proc Natl Acad Sci U S A 102, 12171-12176 (2005).
41. Wu, H. et al. Docosahexaenoic acid induces ERK1/2 activation and neuritogenesis via intracellular reactive oxygen species production in human neuroblastoma SH-SY5Y cells. Biochim Biophys Acta 1791, 8-16 (2009).
42. Mauch, D.H. et al. CNS synaptogenesis promoted by glia-derived cholesterol. Science 294, 1354- 1357 (2001).
43. Chen, C.T. et al. The low levels of eicosapentaenoic acid in rat brain phospholipids are maintained via multiple redundant mechanisms. J Lipid Res 54, 2410-2422 (2013).
44. Chen, C.T. & Bazinet, R.P. β-oxidation and rapid metabolism, but not uptake regulate brain eicosapentaenoic acid levels. Prostaglandins Leukot Essent Fatty Acids (2014).
45. Moore, S.A., Yoder, E., Murphy, S., Dutton, G.R. & Spector, A.A. Astrocytes, not neurons, produce docosahexaenoic acid (22:6 omega-3) and arachidonic acid (20:4 omega-6). J Neurochem 56, 518-524 (1991).
46. Moore, S.A. Polyunsaturated fatty acid synthesis and release by brain-derived cells in vitro. J Mol Neurosci 16, 195-200; discussion 215-121 (2001).
47. Darios, F. & Davletov, B. Omega-3 and omega-6 fatty acids stimulate cell membrane expansion by acting on syntaxin 3. Nature 440, 813-817 (2006).
48. Robson, L.G., Dyall, S., Sidloff, D. & Michael-Titus, A.T. Omega-3 polyunsaturated fatty acids increase the neurite outgrowth of rat sensory neurones throughout development and in aged animals. Neurobiol Aging 31, 678-687 (2010).
49. Schmitz, G. & Ecker, J. The opposing effects of n-3 and n-6 fatty acids. Progress in Lipid Research 47, 147-155 (2008).
50. Zhang, W. et al. Omega-3 polyunsaturated fatty acids in the brain: metabolism and neuroprotection. Front Biosci (Landmark Ed) 16, 2653-2670 (2011).
51. Nguyen, L.N. et al. Mfsd2a is a transporter for the essential omega-3 fatty acid docosahexaenoic acid. Nature 509, 503-506 (2014).
52. Prades, C. et al. The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon. Cytogenet Genome Res 98, 160-168 (2002).
53. Maeß, M.B., Stolle, K., Cullen, P. & Lorkowski, S. Evidence for an alternative genomic structure, mRNA and protein sequence of human ABCA13. Gene 515, 298-307 (2013).
54. Barros, S.A., Tennant, R.W. & Cannon, R.E. Molecular structure and characterization of a novel murine ABC transporter, Abca13. Gene 307, 191-200 (2003).
55. Tomioka, M. et al. The effects of neurological disorder-related codon variations of ABCA13 on the function of the ABC protein. Biosci Biotechnol Biochem 76, 2289-2293 (2012).
56. Albrecht, C. & Viturro, E. The ABCA subfamily--gene and protein structures, functions and associated hereditary diseases. Pflugers Arch 453, 581-589 (2007).
57. Piehler, A.P., Ozcürümez, M. & Kaminski, W.E. A-Subclass ATP-Binding Cassette Proteins in Brain Lipid Homeostasis and Neurodegeneration. Front Psychiatry 3, 17 (2012).
58. Tanaka, A.R. et al. Effects of mutations of ABCA1 in the first extracellular domain on subcellular trafficking and ATP binding/hydrolysis. J Biol Chem 278, 8815-8819 (2003).
59. Wang, N., Silver, D.L., Costet, P. & Tall, A.R. Specific binding of ApoA-I, enhanced cholesterol efflux, and altered plasma membrane morphology in cells expressing ABC1. J Biol Chem 275, 33053-33058 (2000).
60. Ban, N. et al. ABCA3 as a lipid transporter in pulmonary surfactant biogenesis. J Biol Chem 282, 9628-9634 (2007).
61. Cheong, N. et al. Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome. J Biol Chem 281, 9791-9800 (2006).
62. Weichert, N. et al. Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells. Respir Res 12, 4 (2011).
63. Yamano, G. et al. ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett 508, 221-225 (2001).
64. Beharry, S., Zhong, M. & Molday, R.S. N-retinylidene-phosphatidylethanolamine is the preferred retinoid substrate for the photoreceptor-specific ABC transporter ABCA4 (ABCR). J Biol Chem 279, 53972-53979 (2004).
65. Tomioka, M. et al. Lysophosphatidylcholine export by human ABCA7. Biochim Biophys Acta Mol Cell Biol Lipids 1862, 658-665 (2017).
66. Wang, N. et al. ATP-binding cassette transporter A7 (ABCA7) binds apolipoprotein A-I and mediates cellular phospholipid but not cholesterol efflux. J Biol Chem 278, 42906-42912 (2003).
67. Akiyama, M. et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 115, 1777-1784 (2005).
68. Dwyer, S. et al. Investigation of rare non-synonymous variants at ABCA13 in schizophrenia and bipolar disorder. Mol Psychiatry 16, 790-791 (2011).
69. Iritani, S. et al. The neuropathological investigation of the brain in a monkey model of autism spectrum disorder with ABCA13 deletion. Int J Dev Neurosci 71, 130-139 (2018).
70. Yoshida, K. et al. Single-neuron and genetic correlates of autistic behavior in macaque. Sci Adv 2, e1600558 (2016).
71. Ueoka, I. et al. Novel Drosophila model for psychiatric disorders including autism spectrum disorder by targeting of ATP-binding cassette protein A. Exp Neurol 300, 51-59 (2018).
72. Komura, N. et al. Raft-based interactions of gangliosides with a GPI-anchored receptor. Nat Chem Biol 12, 402-410 (2016).
73. Mashiko, D. et al. Generation of mutant mice by pronuclear injection of circular plasmid expressing Cas9 and single guided RNA. Sci Rep 3, 3355 (2013).
74. Ishitsuka, R., Saito, T., Osada, H., Ohno-Iwashita, Y. & Kobayashi, T. Fluorescence image screening for chemical compounds modifying cholesterol metabolism and distribution. J Lipid Res 52, 2084-2094 (2011).
75. Naito, Y., Hino, K., Bono, H. & Ui-Tei, K. CRISPRdirect: software for designing CRISPR/Cas guide RNA with reduced off-target sites. Bioinformatics 31, 1120-1123 (2015).
76. Liu, S.L. et al. Orthogonal lipid sensors identify transbilayer asymmetry of plasma membrane cholesterol. Nat Chem Biol 13, 268-274 (2017).
77. Litvinov, D.Y., Savushkin, E.V. & Dergunov, A.D. Intracellular and Plasma Membrane Events in Cholesterol Transport and Homeostasis. J Lipids 2018, 3965054 (2018).
78. Ikonen, E. Cellular cholesterol trafficking and compartmentalization. Nat Rev Mol Cell Biol 9, 125-138 (2008).
79. Jackson, C.L., Walch, L. & Verbavatz, J.M. Lipids and Their Trafficking: An Integral Part of Cellular Organization. Dev Cell 39, 139-153 (2016).
80. Maekawa, M. & Fairn, G.D. Complementary probes reveal that phosphatidylserine is required for the proper transbilayer distribution of cholesterol. J Cell Sci 128, 1422-1433 (2015).
81. Zidovetzki, R. & Levitan, I. Use of cyclodextrins to manipulate plasma membrane cholesterol content: evidence, misconceptions and control strategies. Biochim Biophys Acta 1768, 1311-1324 (2007).
82. Simons, K. & Toomre, D. Lipid rafts and signal transduction. Nat Rev Mol Cell Biol 1, 31-39 (2000).
83. Fujita, A. et al. Gangliosides GM1 and GM3 in the living cell membrane form clusters susceptible to cholesterol depletion and chilling. Mol Biol Cell 18, 2112-2122 (2007).
84. Cho, J.A. et al. Insights on the trafficking and retro-translocation of glycosphingolipid-binding bacterial toxins. Front Cell Infect Microbiol 2, 51 (2012).
85. Bandmann, V. et al. Membrane capacitance recordings resolve dynamics and complexity of receptor-mediated endocytosis in Wnt signalling. Sci Rep 9, 12999 (2019).
86. Wei, Z., Su, W., Lou, H., Duan, S. & Chen, G. Trafficking pathway between plasma membrane and mitochondria via clathrin-mediated endocytosis. J Mol Cell Biol 10, 539-548 (2018).
87. Davidson, A.L., Dassa, E., Orelle, C. & Chen, J. Structure, function, and evolution of bacterial ATP-binding cassette systems. Microbiol Mol Biol Rev 72, 317-364, table of contents (2008).
88. Takahashi, K., Kimura, Y., Kioka, N., Matsuo, M. & Ueda, K. Purification and ATPase activity of human ABCA1. J Biol Chem 281, 10760-10768 (2006).
89. Futamata, R. et al. FRET analyses reveal a role of ATP hydrolysis-associated conformational changes in human P-glycoprotein. J Biol Chem 295, 5002-5011 (2020).
90. Mashiko, D. et al. Feasibility for a large scale mouse mutagenesis by injecting CRISPR/Cas plasmid into zygotes. Dev Growth Differ 56, 122-129 (2014).
91. Kohl, S., Heekeren, K., Klosterkötter, J. & Kuhn, J. Prepulse inhibition in psychiatric disorders-- apart from schizophrenia. J Psychiatr Res 47, 445-452 (2013).
92. Perry, W., Minassian, A., Feifel, D. & Braff, D.L. Sensorimotor gating deficits in bipolar disorder patients with acute psychotic mania. Biol Psychiatry 50, 418-424 (2001).
93. Powell, S.B., Zhou, X. & Geyer, M.A. Prepulse inhibition and genetic mouse models of schizophrenia. Behav Brain Res 204, 282-294 (2009).
94. Dason, J.S., Smith, A.J., Marin, L. & Charlton, M.P. Vesicular sterols are essential for synaptic vesicle cycling. J Neurosci 30, 15856-15865 (2010).
95. Iwabuchi, S., Kakazu, Y., Koh, J.Y., Goodman, K.M. & Harata, N.C. Examination of synaptic vesicle recycling using FM dyes during evoked, spontaneous, and miniature synaptic activities. J Vis Exp (2014).
96. Daniotti, J.L. & Iglesias-Bartolomé, R. Metabolic pathways and intracellular trafficking of gangliosides. IUBMB Life 63, 513-520 (2011).
97. Ito, S., Kioka, N. & Ueda, K. Cell migration is negatively modulated by ABCA1. Biosci Biotechnol Biochem 83, 463-471 (2019).
98. Frechin, M. et al. Cell-intrinsic adaptation of lipid composition to local crowding drives social behaviour. Nature 523, 88-91 (2015).
99. Yamauchi, Y. et al. Deficiency in the Lipid Exporter ABCA1 Impairs Retrograde Sterol Movement and Disrupts Sterol Sensing at the Endoplasmic Reticulum. J Biol Chem 290, 23464-23477 (2015).
100. Santamarina-Fojo, S., Remaley, A.T., Neufeld, E.B. & Brewer, H.B. Regulation and intracellular trafficking of the ABCA1 transporter. J Lipid Res 42, 1339-1345 (2001).
101. Azuma, Y. et al. Retroendocytosis pathway of ABCA1/apoA-I contributes to HDL formation. Genes Cells 14, 191-204 (2009).
102. Shimamoto-Mitsuyama, C. et al. Evaluation of the role of fatty acid-binding protein 7 in controlling schizophrenia-relevant phenotypes using newly established knockout mice. Schizophr Res (2019).
103. Takamori, S. et al. Molecular anatomy of a trafficking organelle. Cell 127, 831-846 (2006).
104. Rosa, P. & Fratangeli, A. Cholesterol and synaptic vesicle exocytosis. Commun Integr Biol 3, 352- 353 (2010).
105. Egbujo, C.N., Sinclair, D. & Hahn, C.G. Dysregulations of Synaptic Vesicle Trafficking in Schizophrenia. Curr Psychiatry Rep 18, 77 (2016).
106. Li, Y.C. & Kavalali, E.T. Synaptic Vesicle-Recycling Machinery Components as Potential Therapeutic Targets. Pharmacol Rev 69, 141-160 (2017).
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