Membrane receptors and transporters involved in the function and transport of vitamin A and its derivatives

Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids

Volumn 1821, Issue 1, 2012, Pages 99-112

  Sun, Hui ^a  

^a JULES STEIN EYE INSTITUTE   (United States)

Author keywords

ABCA4; Opsin; Retinoid; Retinol binding protein; STRA6; Vitamin A

Indexed keywords

ABC TRANSPORTER; ATP BINDING CASSETTE TRANSPORTER A4; MEMBRANE RECEPTOR; OPSIN; RETINOL; RETINOL DERIVATIVE; UNCLASSIFIED DRUG;

ENVIRONMENTAL FACTOR; HUMAN; NONHUMAN; PRIORITY JOURNAL; REVIEW; TRANSPORT AND BINDING PHENOMENA; VISUAL SYSTEM;

ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; BIOLOGICAL EVOLUTION; BIOLOGICAL TRANSPORT; EYE; EYE DISEASES; HUMANS; MEMBRANE PROTEINS; MEMBRANE TRANSPORT PROTEINS; MICE; OPSINS; VITAMIN A; VITAMIN A DEFICIENCY;

MAMMALIA;

EID: 83255185243     PISSN: 13881981     EISSN: 18792618     Source Type: Journal    
DOI: 10.1016/j.bbalip.2011.06.010     Document Type: Review

References (242)

1. G. Banhegyi, L. Braun, M. Csala, F. Puskas, and J. Mandl Ascorbate metabolism and its regulation in animals Free Radic. Biol. Med. 23 1997 793 803
2. M.F. Holick Vitamin D: evolutionary, physiological and health perspectives Curr. Drug Targets 12 2011 4 18
3. P.T. Liu, S. Stenger, H. Li, L. Wenzel, B.H. Tan, S.R. Krutzik, M.T. Ochoa, J. Schauber, K. Wu, C. Meinken, D.L. Kamen, M. Wagner, R. Bals, A. Steinmeyer, U. Zugel, R.L. Gallo, D. Eisenberg, M. Hewison, B.W. Hollis, J.S. Adams, B.R. Bloom, and R.L. Modlin Toll-like receptor triggering of a vitamin D-mediated human antimicrobial response Science 311 2006 1770 1773
4. M.J. Hill Intestinal flora and endogenous vitamin synthesis Eur. J. Cancer Prev. 6 Suppl 1 1997 S43 S45
5. G. Wald The molecular basis of visual excitation Nature 219 1968 800 807
6. J.E. Dowling Night blindness Sci. Am. 215 1966 78 84
7. A.C. Ross, and E.M. Gardner The function of vitamin A in cellular growth and differentiation, and its roles during pregnancy and lactation Adv. Exp. Med. Biol. 352 1994 187 200
8. J.L. Napoli Biochemical pathways of retinoid transport, metabolism, and signal transduction Clin. Immunol. Immunopathol. 80 1996 S52 S62
9. C.B. Stephensen Vitamin A, infection, and immune function Annu. Rev. Nutr. 21 2001 167 192
10. U.C. Drager Retinoic acid signaling in the functioning brain Sci. STKE 2006 2006 e10
11. M. Maden Retinoic acid in the development, regeneration and maintenance of the nervous system Nat. Rev. Neurosci. 8 2007 755 765
12. G. Duester Retinoic acid synthesis and signaling during early organogenesis Cell 134 2008 921 931
13. K. Niederreither, and P. Dolle Retinoic acid in development: towards an integrated view Nat. Rev. Genet. 9 2008 541 553
14. A. Sommer Vitamin A deficiency, child health, and survival Nutrition 13 1997 484 485
15. C.E. Harjes, T.R. Rocheford, L. Bai, T.P. Brutnell, C.B. Kandianis, S.G. Sowinski, A.E. Stapleton, R. Vallabhaneni, M. Williams, E.T. Wurtzel, J. Yan, and E.S. Buckler Natural genetic variation in lycopene epsilon cyclase tapped for maize biofortification Science 319 2008 330 333
16. R.M. Evans The molecular basis of signaling by vitamin A and its metabolites Harvey Lect. 90 1994 105 117
17. P. Chambon A decade of molecular biology of retinoic acid receptors FASEB J. 10 1996 940 954
18. J. Buck, F. Derguini, E. Levi, K. Nakanishi, and U. Hammerling Intracellular signaling by 14-hydroxy-4,14-retro-retinol Science 254 1991 1654 1656
19. J. Buck, A. Myc, A. Garbe, and G. Cathomas Differences in the action and metabolism between retinol and retinoic acid in B lymphocytes J. Cell Biol. 115 1991 851 859
20. Y. Chen, J. Buck, and F. Derguini Anhydroretinol induces oxidative stress and cell death Cancer Res. 59 1999 3985 3990
21. L. Chen, and J.S. Khillan Promotion of feeder-independent self-renewal of embryonic stem cells by retinol vitamin A Stem Cells 26 2008 1858 1864
22. Y. Chen, F. Derguini, and J. Buck Vitamin A in serum is a survival factor for fibroblasts Proc. Natl. Acad. Sci. U.S.A. 94 1997 10205 10208
23. B. Hoyos, S. Jiang, and U. Hammerling Location and functional significance of retinol-binding sites on the serine/threonine kinase, c-Raf J. Biol. Chem. 280 2005 6872 6878
24. O. Ziouzenkova, G. Orasanu, M. Sharlach, T.E. Akiyama, J.P. Berger, J. Viereck, J.A. Hamilton, G. Tang, G.G. Dolnikowski, S. Vogel, G. Duester, and J. Plutzky Retinaldehyde represses adipogenesis and diet-induced obesity Nat. Med. 13 2007 695 702
25. O. Ziouzenkova, and J. Plutzky Retinoid metabolism and nuclear receptor responses: New insights into coordinated regulation of the PPAR-RXR complex FEBS Lett. 582 2008 32 38
26. N. Chen, B. Onisko, and J.L. Napoli The nuclear transcription factor RARalpha associates with neuronal RNA granules and suppresses translation J. Biol. Chem. 283 2008 20841 20847
27. J. Aoto, C.I. Nam, M.M. Poon, P. Ting, and L. Chen Synaptic signaling by all-trans retinoic acid in homeostatic synaptic plasticity Neuron 60 2008 308 320
28. K. Kaya, F. Shiraishi, H. Uchida, and T. Sano A novel retinoic acid analogue, 7-hydroxy retinoic acid, isolated from cyanobacteria Biochim. Biophys. Acta 1810 2010 414 419
29. J. Nathans, D. Thomas, and D.S. Hogness Molecular genetics of human color vision: the genes encoding blue, green, and red pigments Science 232 1986 193 202
30. J. Nathans, T.P. Piantanida, R.L. Eddy, T.B. Shows, and D.S. Hogness Molecular genetics of inherited variation in human color vision Science 232 1986 203 210
31. J. Nathans The evolution and physiology of human color vision: insights from molecular genetic studies of visual pigments Neuron 24 1999 299 312
32. J. Nathans Rhodopsin: structure, function, and genetics Biochemistry 31 1992 4923 4931
33. H.G. Khorana Rhodopsin, photoreceptor of the rod cell. An emerging pattern for structure and function J. Biol. Chem. 267 1992 1 4
34. W.L. Hubbell, C. Altenbach, C.M. Hubbell, and H.G. Khorana Rhodopsin structure, dynamics, and activation: a perspective from crystallography, site-directed spin labeling, sulfhydryl reactivity, and disulfide cross-linking Adv. Protein Chem. 63 2003 243 290
35. K. Palczewski G protein-coupled receptor rhodopsin Annu. Rev. Biochem. 75 2006 743 767
36. H. Sun, J.P. Macke, and J. Nathans Mechanisms of spectral tuning in the mouse green cone pigment Proc. Natl. Acad. Sci. U.S.A. 94 1997 8860 8865
37. G. Shi, K.W. Yau, J. Chen, and V.J. Kefalov Signaling properties of a short-wave cone visual pigment and its role in phototransduction J. Neurosci. 27 2007 10084 10093
38. M. Max, P.J. McKinnon, K.J. Seidenman, R.K. Barrett, M.L. Applebury, J.S. Takahashi, and R.F. Margolskee Pineal opsin: a nonvisual opsin expressed in chick pineal Science 267 1995 1502 1506
39. T. Okano, T. Yoshizawa, and Y. Fukada Pinopsin is a chicken pineal photoreceptive molecule Nature 372 1994 94 97
40. G.L. Owens, D.J. Windsor, J. Mui, and J.S. Taylor A fish eye out of water: ten visual opsins in the four-eyed fish, Anableps anableps PLoS One 4 2009 e5970
41. I. Provencio, G. Jiang, W.J. De Grip, W.P. Hayes, and M.D. Rollag Melanopsin: An opsin in melanophores, brain, and eye Proc. Natl. Acad. Sci. U.S.A. 95 1998 340 345
42. S. Hattar, H.W. Liao, M. Takao, D.M. Berson, and K.W. Yau Melanopsin-containing retinal ganglion cells: architecture, projections, and intrinsic photosensitivity Science 295 2002 1065 1070
43. I. Provencio, M.D. Rollag, and A.M. Castrucci Photoreceptive net in the mammalian retina. This mesh of cells may explain how some blind mice can still tell day from night Nature 415 2002 493
44. S. Hattar, R.J. Lucas, N. Mrosovsky, S. Thompson, R.H. Douglas, M.W. Hankins, J. Lem, M. Biel, F. Hofmann, R.G. Foster, and K.W. Yau Melanopsin and rod-cone photoreceptive systems account for all major accessory visual functions in mice Nature 424 2003 76 81
45. S. Panda, I. Provencio, D.C. Tu, S.S. Pires, M.D. Rollag, A.M. Castrucci, M.T. Pletcher, T.K. Sato, T. Wiltshire, M. Andahazy, S.A. Kay, R.N. Van Gelder, and J.B. Hogenesch Melanopsin is required for non-image-forming photic responses in blind mice Science 301 2003 525 527
46. D.M. Berson, F.A. Dunn, and M. Takao Phototransduction by retinal ganglion cells that set the circadian clock Science 295 2002 1070 1073
47. M.T. Do, S.H. Kang, T. Xue, H. Zhong, H.W. Liao, D.E. Bergles, and K.W. Yau Photon capture and signalling by melanopsin retinal ganglion cells Nature 457 2009 281 287
48. B.G. Soni, and R.G. Foster A novel and ancient vertebrate opsin FEBS Lett. 406 1997 279 283
49. B.G. Soni, A.R. Philp, R.G. Foster, and B.E. Knox Novel retinal photoreceptors Nature 394 1998 27 28
50. C.Y. Su, D.G. Luo, A. Terakita, Y. Shichida, H.W. Liao, M.A. Kazmi, T.P. Sakmar, and K.W. Yau Parietal-eye phototransduction components and their potential evolutionary implications Science 311 2006 1617 1621
51. D. Bok The retinal pigment epithelium: a versatile partner in vision J. Cell Sci. Suppl. 17 1993 189 195
52. J.R. Sparrow, D. Hicks, and C.P. Hamel The retinal pigment epithelium in health and disease Curr. Mol. Med. 10 2010 802 823
53. H. Sun, D.J. Gilbert, N.G. Copeland, N.A. Jenkins, and J. Nathans Peropsin, a novel visual pigment-like protein located in the apical microvilli of the retinal pigment epithelium Proc. Natl. Acad. Sci. U.S.A. 94 1997 9893 9898
54. W. Hao, and H.K. Fong Blue and ultraviolet light-absorbing opsin from the retinal pigment epithelium Biochemistry 35 1996 6251 6256
55. W. Hao, and H.K. Fong The endogenous chromophore of retinal G protein-coupled receptor opsin from the pigment epithelium J. Biol. Chem. 274 1999 6085 6090
56. P. Chen, W. Hao, L. Rife, X.P. Wang, D. Shen, J. Chen, T. Ogden, G.B. Van Boemel, L. Wu, M. Yang, and H.K. Fong A photic visual cycle of rhodopsin regeneration is dependent on Rgr Nat. Genet. 28 2001 256 260
57. A. Wenzel, V. Oberhauser, E.N. Pugh Jr., T.D. Lamb, C. Grimm, M. Samardzija, E. Fahl, M.W. Seeliger, C.E. Reme, and J. von Lintig The retinal G protein-coupled receptor (RGR) enhances isomerohydrolase activity independent of light J. Biol. Chem. 280 2005 29874 29884
58. R.A. Radu, J. Hu, J. Peng, D. Bok, N.L. Mata, and G.H. Travis Retinal pigment epithelium-retinal G protein receptor-opsin mediates light-dependent translocation of all-trans-retinyl esters for synthesis of visual chromophore in retinal pigment epithelial cells J. Biol. Chem. 283 2008 19730 19738
59. M. Koyanagi, A. Terakita, K. Kubokawa, and Y. Shichida Amphioxus homologs of Go-coupled rhodopsin and peropsin having 11-cis- and all-trans-retinals as their chromophores FEBS Lett. 531 2002 525 528
60. T. Nagata, M. Koyanagi, H. Tsukamoto, and A. Terakita Identification and characterization of a protostome homologue of peropsin from a jumping spider J. Comp. Physiol. A Neuroethol. Sens. Neural Behav. Physiol. 196 2010 51 59
61. S. Blackshaw, and S.H. Snyder Encephalopsin: a novel mammalian extraretinal opsin discretely localized in the brain J. Neurosci. 19 1999 3681 3690
62. E.E. Tarttelin, J. Bellingham, M.W. Hankins, R.G. Foster, and R.J. Lucas Neuropsin (Opn5): a novel opsin identified in mammalian neural tissue FEBS Lett. 554 2003 410 416
63. Y. Nakane, K. Ikegami, H. Ono, N. Yamamoto, S. Yoshida, K. Hirunagi, S. Ebihara, Y. Kubo, and T. Yoshimura A mammalian neural tissue opsin (Opsin 5) is a deep brain photoreceptor in birds Proc. Natl. Acad. Sci. U.S.A. 107 2010 15264 15268
64. R.D. Airan, K.R. Thompson, L.E. Fenno, H. Bernstein, and K. Deisseroth Temporally precise in vivo control of intracellular signalling Nature 458 2009 1025 1029
65. T. Maeda, A. Maeda, P. Leahy, D.A. Saperstein, and K. Palczewski Effects of long-term administration of 9-cis-retinyl acetate on visual function in mice Invest. Ophthalmol. Vis. Sci. 50 2009 322 333
66. P.H. Tang, J. Fan, P.W. Goletz, L. Wheless, and R.K. Crouch Effective and sustained delivery of hydrophobic retinoids to photoreceptors Invest. Ophthalmol. Vis. Sci. 51 2010 5958 5964
67. R.A. Heyman, D.J. Mangelsdorf, J.A. Dyck, R.B. Stein, G. Eichele, R.M. Evans, and C. Thaller 9-cis retinoic acid is a high affinity ligand for the retinoid X receptor Cell 68 1992 397 406
68. A.A. Levin, L.J. Sturzenbecker, S. Kazmer, T. Bosakowski, C. Huselton, G. Allenby, J. Speck, C. Kratzeisen, M. Rosenberger, and A. Lovey 9-cis retinoic acid stereoisomer binds and activates the nuclear receptor RXR alpha Nature 355 1992 359 361
69. M.A. Kane, and J.L. Napoli Quantification of endogenous retinoids Methods Mol. Biol. 652 2010 1 54
70. J.L. Spudich, C.S. Yang, K.H. Jung, and E.N. Spudich Retinylidene proteins: structures and functions from archaea to humans Annu. Rev. Cell Dev. Biol. 16 2000 365 392
71. K.J. Hellingwerf, W.D. Hoff, and W. Crielaard Photobiology of microorganisms: how photosensors catch a photon to initialize signalling Mol. Microbiol. 21 1996 683 693
72. G. Wald The distribution and evolution of visual systems Comp. Biochem. I 1960 311 345
73. J.X. Ma, M. Kono, L. Xu, J. Das, J.C. Ryan, E.S. Hazard III, D.D. Oprian, and R.K. Crouch Salamander UV cone pigment: sequence, expression, and spectral properties Vis. Neurosci. 18 2001 393 399
74. K. Isono, T. Tanimura, Y. Oda, and Y. Tsukahara Dependency on light and vitamin A derivatives of the biogenesis of 3-hydroxyretinal and visual pigment in the compound eyes of Drosophila melanogaster J. Gen. Physiol. 92 1988 587 600
75. S. Matsui, M. Seidou, I. Uchiyama, N. Sekiya, K. Hiraki, K. Yoshihara, and Y. Kito 4-Hydroxyretinal, a new visual pigment chromophore found in the bioluminescent squid, Watasenia scintillans Biochim. Biophys. Acta 966 1988 370 374
76. S.L. Merbs, and J. Nathans Role of hydroxyl-bearing amino acids in differentially tuning the absorption spectra of the human red and green cone pigments Photochem. Photobiol. 58 1993 706 710
77. S.W. Lin, and T.P. Sakmar Colour tuning mechanisms of visual pigments Novartis Found. Symp. 224 1999 124 135 discussion 135-141, 181-190.
78. J.I. Fasick, N. Lee, and D.D. Oprian Spectral tuning in the human blue cone pigment Biochemistry 38 1999 11593 11596
79. D.C. Teller, R.E. Stenkamp, and K. Palczewski Evolutionary analysis of rhodopsin and cone pigments: connecting the three-dimensional structure with spectral tuning and signal transfer FEBS Lett. 555 2003 151 159
80. G.H. Jacobs, G.A. Williams, H. Cahill, and J. Nathans Emergence of novel color vision in mice engineered to express a human cone photopigment Science 315 2007 1723 1725
81. K. Mancuso, W.W. Hauswirth, Q. Li, T.B. Connor, J.A. Kuchenbecker, M.C. Mauck, J. Neitz, and M. Neitz Gene therapy for red-green colour blindness in adult primates Nature 461 2009 784 787
82. G.H. Jacobs, and J. Nathans The evolution of Primate color vision Sci. Am. 300 2009 56 63
83. I. Provencio, I.R. Rodriguez, G. Jiang, W.P. Hayes, E.F. Moreira, and M.D. Rollag A novel human opsin in the inner retina J. Neurosci. 20 2000 600 605
84. N. Cheng, T. Tsunenari, and K.W. Yau Intrinsic light response of retinal horizontal cells of teleosts Nature 460 2009 899 903
85. I. Menon, T. Huber, S. Sanyal, S. Banerjee, P. Barre, S. Canis, J.D. Warren, J. Hwa, T.P. Sakmar, and A.K. Menon Opsin is a phospholipid flippase Curr. Biol. 21 2011 149 153
86. W.L. Shen, Y. Kwon, A.A. Adegbola, J. Luo, A. Chess, and C. Montell Function of rhodopsin in temperature discrimination in Drosophila Science 331 2011 1333 1336
87. J. Nathans, S.L. Merbs, C.H. Sung, C.J. Weitz, and Y. Wang Molecular genetics of human visual pigments Annu. Rev. Genet. 26 1992 403 424
88. T.P. Dryja, T.L. McGee, E. Reichel, L.B. Hahn, G.S. Cowley, D.W. Yandell, M.A. Sandberg, and E.L. Berson A point mutation of the rhodopsin gene in one form of retinitis pigmentosa Nature 343 1990 364 366
89. C.H. Sung, C.M. Davenport, J.C. Hennessey, I.H. Maumenee, S.G. Jacobson, J.R. Heckenlively, R. Nowakowski, G. Fishman, P. Gouras, and J. Nathans Rhodopsin mutations in autosomal dominant retinitis pigmentosa Proc. Natl. Acad. Sci. U.S.A. 88 1991 6481 6485
90. T.P. Dryja, and T. Li Molecular genetics of retinitis pigmentosa Hum. Mol. Genet. 4 Spec No 1995 1739 1743
91. J. Nathans In the eye of the beholder: visual pigments and inherited variation in human vision Cell 78 1994 357 360
92. J.H. Wilson, and T.G. Wensel The nature of dominant mutations of rhodopsin and implications for gene therapy Mol. Neurobiol. 28 2003 149 158
93. T.P. Dryja, E.L. Berson, V.R. Rao, and D.D. Oprian Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness Nat. Genet. 4 1993 280 283
94. P.A. Sieving, J.E. Richards, F. Naarendorp, E.L. Bingham, K. Scott, and M. Alpern Dark-light: model for nightblindness from the human rhodopsin Gly-90- > Asp mutation Proc. Natl. Acad. Sci. U.S.A. 92 1995 880 884
95. A.M. Dizhoor, M.L. Woodruff, E.V. Olshevskaya, M.C. Cilluffo, M.C. Cornwall, P.A. Sieving, and G.L. Fain Night blindness and the mechanism of constitutive signaling of mutant G90D rhodopsin J. Neurosci. 28 2008 11662 11672
96. S. Jin, M.C. Cornwall, and D.D. Oprian Opsin activation as a cause of congenital night blindness Nat. Neurosci. 6 2003 731 735
97. H. Morimura, F. Saindelle-Ribeaudeau, E.L. Berson, and T.P. Dryja Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa Nat. Genet. 23 1999 393 394
98. R.S. Molday, M. Zhong, and F. Quazi The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration Biochim. Biophys. Acta 1791 2009 573 583
99. Y. Tsybovsky, R.S. Molday, and K. Palczewski The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease Adv. Exp. Med. Biol. 703 2010 105 125
100. R. Allikmets, N. Singh, H. Sun, N.F. Shroyer, A. Hutchinson, A. Chidambaram, B. Gerrard, L. Baird, D. Stauffer, A. Peiffer, A. Rattner, P. Smallwood, Y. Li, K.L. Anderson, R.A. Lewis, J. Nathans, M. Leppert, M. Dean, and J.R. Lupski A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy Nat. Genet. 15 1997 236 246
101. M. Illing, L.L. Molday, and R.S. Molday The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily J. Biol. Chem. 272 1997 10303 10310
102. S.M. Azarian, and G.H. Travis The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease ABCR FEBS Lett. 409 1997 247 252
103. C. Tang, and J.F. Oram The cell cholesterol exporter ABCA1 as a protector from cardiovascular disease and diabetes Biochim. Biophys. Acta 1791 2009 563 572
104. L. Yvan-Charvet, N. Wang, and A.R. Tall Role of HDL, ABCA1, and ABCG1 transporters in cholesterol efflux and immune responses Arterioscler. Thromb. Vasc. Biol. 30 2010 139 143
105. J. Weng, N.L. Mata, S.M. Azarian, R.T. Tzekov, D.G. Birch, and G.H. Travis Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice Cell 98 1999 13 23
106. H. Sun, R.S. Molday, and J. Nathans Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease J. Biol. Chem. 274 1999 8269 8281
107. J. Ahn, J.T. Wong, and R.S. Molday The effect of lipid environment and retinoids on the ATPase activity of ABCR, the photoreceptor ABC transporter responsible for Stargardt macular dystrophy J. Biol. Chem. 275 2000 20399 20405
108. H. Sun, and J. Nathans Mechanistic studies of ABCR, the ABC transporter in photoreceptor outer segments responsible for autosomal recessive Stargardt disease J. Bioenerg. Biomembr. 33 2001 523 530
109. S. Jager, K. Palczewski, and K.P. Hofmann Opsin/all-trans-retinal complex activates transducin by different mechanisms than photolyzed rhodopsin Biochemistry 35 1996 2901 2908
110. A. Surya, K.W. Foster, and B.E. Knox Transducin activation by the bovine opsin apoprotein J. Biol. Chem. 270 1995 5024 5031
111. S. Beharry, M. Zhong, and R.S. Molday N-retinylidene- phosphatidylethanolamine is the preferred retinoid substrate for the photoreceptor-specific ABC transporter ABCA4 ABCR J. Biol. Chem. 279 2004 53972 53979
112. M. Zhong, and R.S. Molday Binding of retinoids to ABCA4, the photoreceptor ABC transporter associated with Stargardt macular degeneration Methods Mol. Biol. 652 2010 163 176
113. A. During, and E.H. Harrison Mechanisms of provitamin A (carotenoid) and vitamin A (retinol) transport into and out of intestinal Caco-2 cells J. Lipid Res. 48 2007 2283 2294
114. A. Maeda, M. Golczak, T. Maeda, and K. Palczewski Limited roles of Rdh8, Rdh12, and Abca4 in all-trans-retinal clearance in mouse retina Invest. Ophthalmol. Vis. Sci. 50 2009 5435 5443
115. L.R. Blakeley, C. Chen, C.K. Chen, J. Chen, R.K. Crouch, G.H. Travis, and Y. Koutalos Rod outer segment retinol formation is independent of Abca4, arrestin, rhodopsin kinase, and rhodopsin palmitylation Invest. Ophthalmol. Vis. Sci. 2010
116. J. Bhongsatiern, S. Ohtsuki, M. Tachikawa, S. Hori, and T. Terasaki Retinal-specific ATP-binding cassette transporter (ABCR/ABCA4) is expressed at the choroid plexus in rat brain J. Neurochem. 92 2005 1277 1280
117. H. Tsukamoto, and A. Terakita Diversity and functional properties of bistable pigments Photochem. Photobiol. Sci. 9 2010 1435 1443
118. B.V. Zemelman, G.A. Lee, M. Ng, and G. Miesenbock Selective photostimulation of genetically chARGed neurons Neuron 33 2002 15 22
119. G.H. Travis, M. Golczak, A.R. Moise, and K. Palczewski Diseases Caused by Defects in the Visual Cycle: Retinoids as Potential Therapeutic Agents Annu. Rev. Pharmacol. Toxicol. 2006
120. R.K. Crouch, G.J. Chader, B. Wiggert, and D.R. Pepperberg Retinoids and the visual process Photochem. Photobiol. 64 1996 613 621
121. N.L. Mata, R.A. Radu, R.C. Clemmons, and G.H. Travis Isomerization and oxidation of vitamin a in cone-dominant retinas: a novel pathway for visual-pigment regeneration in daylight Neuron 36 2002 69 80
122. J.S. Wang, M.E. Estevez, M.C. Cornwall, and V.J. Kefalov Intra-retinal visual cycle required for rapid and complete cone dark adaptation Nat. Neurosci. 12 2009 295 302
123. X. Wang, T. Wang, Y. Jiao, J. von Lintig, and C. Montell Requirement for an enzymatic visual cycle in Drosophila Curr. Biol. 20 2010 93 102
124. M. Koyanagi, E. Kawano, Y. Kinugawa, T. Oishi, Y. Shichida, S. Tamotsu, and A. Terakita Bistable UV pigment in the lamprey pineal Proc. Natl. Acad. Sci. U.S.A. 101 2004 6687 6691
125. S. Panda, S.K. Nayak, B. Campo, J.R. Walker, J.B. Hogenesch, and T. Jegla Illumination of the melanopsin signaling pathway Science 307 2005 600 604
126. Z. Melyan, E.E. Tarttelin, J. Bellingham, R.J. Lucas, and M.W. Hankins Addition of human melanopsin renders mammalian cells photoresponsive Nature 433 2005 741 745
127. V. Oberhauser, O. Voolstra, A. Bangert, J. von Lintig, and K. Vogt NinaB combines carotenoid oxygenase and retinoid isomerase activity in a single polypeptide Proc. Natl. Acad. Sci. U.S.A. 105 2008 19000 19005
128. G.A. Fishman, J.S. Farbman, and K.R. Alexander Delayed rod dark adaptation in patients with Stargardt's disease Ophthalmology 98 1991 957 962
129. G.L. Fain Dark adaptation Prog. Brain Res. 131 2001 383 394
130. G.L. Fain, H.R. Matthews, M.C. Cornwall, and Y. Koutalos Adaptation in vertebrate photoreceptors Physiol. Rev. 81 2001 117 151
131. A. Maeda, T. Maeda, M. Golczak, S. Chou, A. Desai, C.L. Hoppel, S. Matsuyama, and K. Palczewski Involvement of all-trans-retinal in acute light-induced retinopathy of mice J. Biol. Chem. 284 2009 15173 15183
132. A. Maeda, T. Maeda, M. Golczak, and K. Palczewski Retinopathy in mice induced by disrupted all-trans-retinal clearance J. Biol. Chem. 283 2008 26684 26693
133. A. Martinez-Mir, E. Paloma, R. Allikmets, C. Ayuso, T. del Rio, M. Dean, L. Vilageliu, R. Gonzalez-Duarte, and S. Balcells Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR Nat. Genet. 18 1998 11 12
134. N.F. Shroyer, R.A. Lewis, A.N. Yatsenko, and J.R. Lupski Null missense ABCR (ABCA4) mutations in a family with Stargardt disease and retinitis pigmentosa Invest. Ophthalmol. Vis. Sci. 42 2001 2757 2761
135. F.P. Cremers, D.J. van de Pol, M. van Driel, A.I. den Hollander, F.J. van Haren, N.V. Knoers, N. Tijmes, A.A. Bergen, K. Rohrschneider, A. Blankenagel, A.J. Pinckers, A.F. Deutman, and C.B. Hoyng Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR Hum. Mol. Genet. 7 1998 355 362
136. D.G. Birch, A.Y. Peters, K.L. Locke, R. Spencer, C.F. Megarity, and G.H. Travis Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene Exp. Eye Res. 73 2001 877 886
137. B.J. Klevering, A. Blankenagel, A. Maugeri, F.P. Cremers, C.B. Hoyng, and K. Rohrschneider Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene Invest. Ophthalmol. Vis. Sci. 43 2002 1980 1985
138. R. Allikmets Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium Am. J. Hum. Genet. 67 2000 487 491
139. W. Chen, D. Stambolian, A.O. Edwards, K.E. Branham, M. Othman, J. Jakobsdottir, N. Tosakulwong, M.A. Pericak-Vance, P.A. Campochiaro, M.L. Klein, P.L. Tan, Y.P. Conley, A. Kanda, L. Kopplin, Y. Li, K.J. Augustaitis, A.J. Karoukis, W.K. Scott, A. Agarwal, J.L. Kovach, S.G. Schwartz, E.A. Postel, M. Brooks, K.H. Baratz, W.L. Brown, A.J. Brucker, A. Orlin, G. Brown, A. Ho, C. Regillo, L. Donoso, L. Tian, B. Kaderli, D. Hadley, S.A. Hagstrom, N.S. Peachey, R. Klein, B.E. Klein, N. Gotoh, K. Yamashiro, F. Ferris Iii, J.A. Fagerness, R. Reynolds, L.A. Farrer, I.K. Kim, J.W. Miller, M. Corton, A. Carracedo, M. Sanchez-Salorio, E.W. Pugh, K.F. Doheny, M. Brion, M.M. Deangelis, D.E. Weeks, D.J. Zack, E.Y. Chew, J.R. Heckenlively, N. Yoshimura, S.K. Iyengar, P.J. Francis, N. Katsanis, J.M. Seddon, J.L. Haines, M.B. Gorin, G.R. Abecasis, and A. Swaroop Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration Proc. Natl. Acad. Sci. U.S.A. 107 2010 7401 7406
140. B.M. Neale, J. Fagerness, R. Reynolds, L. Sobrin, M. Parker, S. Raychaudhuri, P.L. Tan, E.C. Oh, J.E. Merriam, E. Souied, P.S. Bernstein, B. Li, J.M. Frederick, K. Zhang, M.A. Brantley Jr., A.Y. Lee, D.J. Zack, B. Campochiaro, P. Campochiaro, S. Ripke, R.T. Smith, G.R. Barile, N. Katsanis, R. Allikmets, M.J. Daly, and J.M. Seddon Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene LIPC Proc. Natl. Acad. Sci. U.S.A. 107 2010 7395 7400
141. H. Sun, P.M. Smallwood, and J. Nathans Biochemical defects in ABCR protein variants associated with human retinopathies Nat. Genet. 26 2000 242 246
142. M. Zhong, L.L. Molday, and R.S. Molday Role of the C terminus of the photoreceptor ABCA4 transporter in protein folding, function, and retinal degenerative diseases J. Biol. Chem. 284 2009 3640 3649
143. P.P. Bither, and L.A. Berns Stargardt's disease: a review of the literature J. Am. Optom. Assoc. 59 1988 106 111
144. H. Sun, and J. Nathans Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments Nat. Genet. 17 1997 15 16
145. G.E. Eldred, and M.R. Lasky Retinal age pigments generated by self-assembling lysosomotropic detergents Nature 361 1993 724 726
146. C.A. Parish, M. Hashimoto, K. Nakanishi, J. Dillon, and J. Sparrow Isolation and one-step preparation of A2E and iso-A2E, fluorophores from human retinal pigment epithelium Proc. Natl. Acad. Sci. U.S.A. 95 1998 14609 14613
147. N.L. Mata, J. Weng, and G.H. Travis Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration Proc. Natl. Acad. Sci. U.S.A. 97 2000 7154 7159
148. A.V. Cideciyan, T.S. Aleman, M. Swider, S.B. Schwartz, J.D. Steinberg, A.J. Brucker, A.M. Maguire, J. Bennett, E.M. Stone, and S.G. Jacobson Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence Hum. Mol. Genet. 13 2004 525 534
149. J.R. Sparrow, K.D. Yoon, Y. Wu, and K. Yamamoto Interpretations of fundus autofluorescence from studies of the bisretinoids of the retina Invest. Ophthalmol. Vis. Sci. 51 2010 4351 4357
150. L.L. Molday, A.R. Rabin, and R.S. Molday ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy Nat. Genet. 25 2000 257 258
151. R.W. Young, and D. Bok Participation of the retinal pigment epithelium in the rod outer segment renewal process J. Cell Biol. 42 1969 392 403
152. D. Bok, and R.W. Young The renewal of diffusely distributed protein in the outer segments of rods and cones Vision Res. 12 1972 161 168
153. J.R. Sparrow, and M. Boulton RPE lipofuscin and its role in retinal pathobiology Exp. Eye Res. 80 2005 595 606
154. J.R. Sparrow, B. Cai, Y.P. Jang, J. Zhou, and K. Nakanishi A2E, a fluorophore of RPE lipofuscin, can destabilize membrane Adv. Exp. Med. Biol. 572 2006 63 68
155. S. De, and T.P. Sakmar Interaction of A2E with model membranes. Implications to the pathogenesis of age-related macular degeneration J. Gen. Physiol. 120 2002 147 157
156. C. Vives-Bauza, M. Anand, A.K. Shirazi, J. Magrane, J. Gao, H.R. Vollmer-Snarr, G. Manfredi, and S.C. Finnemann The age lipid A2E and mitochondrial dysfunction synergistically impair phagocytosis by retinal pigment epithelial cells J. Biol. Chem. 283 2008 24770 24780
157. G. Moiseyev, O. Nikolaeva, Y. Chen, K. Farjo, Y. Takahashi, and J.X. Ma Inhibition of the visual cycle by A2E through direct interaction with RPE65 and implications in Stargardt disease Proc. Natl. Acad. Sci. U.S.A. 107 2010 17551 17556
158. J. Zhou, Y.P. Jang, S.R. Kim, and J.R. Sparrow Complement activation by photooxidation products of A2E, a lipofuscin constituent of the retinal pigment epithelium Proc. Natl. Acad. Sci. U.S.A. 103 2006 16182 16187
159. J. Zhou, S.R. Kim, B.S. Westlund, and J.R. Sparrow Complement activation by bisretinoid constituents of RPE lipofuscin Invest. Ophthalmol. Vis. Sci. 50 2009 1392 1399
160. R.A. Radu, J. Hu, Q. Yuan, D.L. Welch, J. Makshanoff, M. Lloyd, S. McMullen, G.H. Travis, and D. Bok Complement system dysregulation and inflammation in the retinal pigment epithelium of a mouse model for stargardt macular degeneration J. Biol. Chem. 286 2011 18593 18601
161. R.A. Radu, Q. Yuan, J. Hu, J.H. Peng, M. Lloyd, S. Nusinowitz, D. Bok, and G.H. Travis Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementation Invest. Ophthalmol. Vis. Sci. 49 2008 3821 3829
162. R.A. Radu, Y. Han, T.V. Bui, S. Nusinowitz, D. Bok, J. Lichter, K. Widder, G.H. Travis, and N.L. Mata Reductions in serum vitamin A arrest accumulation of toxic retinal fluorophores: a potential therapy for treatment of lipofuscin-based retinal diseases Invest. Ophthalmol. Vis. Sci. 46 2005 4393 4401
163. R.A. Radu, N.L. Mata, S. Nusinowitz, X. Liu, and G.H. Travis Isotretinoin treatment inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration Novartis Found. Symp. 255 2004 51 63 discussion 63-57, 177-178.
164. T. Maeda, A. Maeda, M. Matosky, K. Okano, S. Roos, J. Tang, and K. Palczewski Evaluation of potential therapies for a mouse model of human age-related macular degeneration caused by delayed all-trans-retinal clearance Invest. Ophthalmol. Vis. Sci. 50 2009 4917 4925
165. J. Kong, S.R. Kim, K. Binley, I. Pata, K. Doi, J. Mannik, J. Zernant-Rajang, O. Kan, S. Iqball, S. Naylor, J.R. Sparrow, P. Gouras, and R. Allikmets Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy Gene Ther. 15 2008 1311 1320
166. A.V. Cideciyan, M. Swider, T.S. Aleman, Y. Tsybovsky, S.B. Schwartz, E.A. Windsor, A.J. Roman, A. Sumaroka, J.D. Steinberg, S.G. Jacobson, E.M. Stone, and K. Palczewski ABCA4 disease progression and a proposed strategy for gene therapy Hum. Mol. Genet. 18 2009 931 941
167. Y. Wu, J. Zhou, N. Fishkin, B.E. Rittmann, and J.R. Sparrow Enzymatic degradation of A2E, a retinal pigment epithelial lipofuscin bisretinoid J. Am. Chem. Soc. 133 2011 849 857
168. J.R. Sparrow, S.R. Kim, and Y. Wu Experimental approaches to the study of A2E, a bisretinoid lipofuscin chromophore of retinal pigment epithelium Methods Mol. Biol. 652 2010 315 327
169. P. Bouillet, V. Sapin, C. Chazaud, N. Messaddeq, D. Decimo, P. Dolle, and P. Chambon Developmental expression pattern of Stra6, a retinoic acid-responsive gene encoding a new type of membrane protein Mech. Dev. 63 1997 173 186
170. W. Szeto, W. Jiang, D.A. Tice, B. Rubinfeld, P.G. Hollingshead, S.E. Fong, D.L. Dugger, T. Pham, D.G. Yansura, T.A. Wong, J.C. Grimaldi, R.T. Corpuz, J.S. Singh, G.D. Frantz, B. Devaux, C.W. Crowley, R.H. Schwall, D.A. Eberhard, L. Rastelli, P. Polakis, and D. Pennica Overexpression of the retinoic acid-responsive gene Stra6 in human cancers and its synergistic induction by Wnt-1 and retinoic acid Cancer Res. 61 2001 4197 4205
171. R. Kawaguchi, J. Yu, J. Honda, J. Hu, J. Whitelegge, P. Ping, P. Wiita, D. Bok, and H. Sun A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A Science 315 2007 820 825
172. D.S. Goodman Plasma Retinol-Binding Protein M.B. Sporn, A.B. Boberts, D.S. Goodman, The Retinoids vol. 2 1984 Academic Press Inc. 41 88
173. L. Rask, H. Anundi, J. Bohme, U. Eriksson, A. Fredriksson, S.F. Nilsson, H. Ronne, A. Vahlquist, and P.A. Peterson The retinol-binding protein Scand. J. Clin. Lab. Invest. Suppl. 154 1980 45 61
174. W.S. Blaner Retinol-binding protein: the serum transport protein for vitamin A Endocr. Rev. 10 1989 308 316
175. R. Blomhoff, M.H. Green, T. Berg, and K.R. Norum Transport and storage of vitamin A Science 250 1990 399 404
176. M.E. Newcomer, and D.E. Ong Plasma retinol binding protein: structure and function of the prototypic lipocalin Biochim. Biophys. Acta 1482 2000 57 64
177. G. Zanotti, and R. Berni Plasma retinol-binding protein: structure and interactions with retinol, retinoids, and transthyretin Vitam. Horm. 69 2004 271 295
178. L. Quadro, L. Hamberger, M.E. Gottesman, F. Wang, V. Colantuoni, W.S. Blaner, and C.L. Mendelsohn Pathways of vitamin A delivery to the embryo: insights from a new tunable model of embryonic vitamin A deficiency Endocrinology 146 2005 4479 4490
179. A. Isken, M. Golczak, V. Oberhauser, S. Hunzelmann, W. Driever, Y. Imanishi, K. Palczewski, and J. von Lintig RBP4 Disrupts Vitamin A Uptake Homeostasis in a STRA6-Deficient Animal Model for Matthew-Wood Syndrome Cell Metab. 7 2008 258 268
180. R. Kawaguchi, J. Yu, P. Wiita, J. Honda, and H. Sun An essential ligand-binding domain in the membrane receptor for retinol-binding protein revealed by large-scale mutagenesis and a human polymorphism J. Biol. Chem. 283 2008 15160 15168
181. D. Bok, and J. Heller Transport of retinol from the blood to the retina: an autoradiographic study of the pigment epithelial cell surface receptor for plasma retinol-binding protein Exp. Eye Res. 22 1976 395 402
182. A. Sommer Vitamin A status, resistance to infection, and childhood mortality Ann. N. Y. Acad. Sci. 587 1990 17 23
183. A.C. Ross Vitamin A status: relationship to immunity and the antibody response Proc. Soc. Exp. Biol. Med. 200 1992 303 320
184. M.Y. Chiang, D. Misner, G. Kempermann, T. Schikorski, V. Giguere, H.M. Sucov, F.H. Gage, C.F. Stevens, and R.M. Evans An essential role for retinoid receptors RARbeta and RXRgamma in long-term potentiation and depression Neuron 21 1998 1353 1361
185. J.A. Siegenthaler, A.M. Ashique, K. Zarbalis, K.P. Patterson, J.H. Hecht, M.A. Kane, A.E. Folias, Y. Choe, S.R. May, T. Kume, J.L. Napoli, A.S. Peterson, and S.J. Pleasure Retinoic acid from the meninges regulates cortical neuron generation Cell 139 2009 597 609
186. F. Pasutto, H. Sticht, G. Hammersen, G. Gillessen-Kaesbach, D.R. Fitzpatrick, G. Nurnberg, F. Brasch, H. Schirmer-Zimmermann, J.L. Tolmie, D. Chitayat, G. Houge, L. Fernandez-Martinez, S. Keating, G. Mortier, R.C. Hennekam, A. von der Wense, A. Slavotinek, P. Meinecke, P. Bitoun, C. Becker, P. Nurnberg, A. Reis, and A. Rauch Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation Am. J. Hum. Genet. 80 2007 550 560
187. C. Golzio, J. Martinovic-Bouriel, S. Thomas, S. Mougou-Zrelli, B. Grattagliano-Bessieres, M. Bonniere, S. Delahaye, A. Munnich, F. Encha-Razavi, S. Lyonnet, M. Vekemans, T. Attie-Bitach, and H.C. Etchevers Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6 Am. J. Hum. Genet. 80 2007 1179 1187
188. J. Heller Interactions of plasma retinol-binding protein with its receptor. Specific binding of bovine and human retinol-binding protein to pigment epithelium cells from bovine eyes J. Biol. Chem. 250 1975 3613 3619
189. C.C. Chen, and J. Heller Uptake of retinol and retinoic acid from serum retinol-binding protein by retinal pigment epithelial cells J. Biol. Chem. 252 1977 5216 5221
190. L. Rask, and P.A. Peterson In vitro uptake of vitamin A from the retinol-binding plasma protein to mucosal epithelial cells from the monkey's small intestine J. Biol. Chem. 251 1976 6360 6366
191. S. Ottonello, S. Petrucco, and G. Maraini Vitamin A uptake from retinol-binding protein in a cell-free system from pigment epithelial cells of bovine retina. Retinol transfer from plasma retinol-binding protein to cytoplasmic retinol-binding protein with retinyl-ester formation as the intermediate step J. Biol. Chem. 262 1987 3975 3981
192. A. Sivaprasadarao, and J.B. Findlay The mechanism of uptake of retinol by plasma-membrane vesicles Biochem. J. 255 1988 571 579
193. J.L. Shingleton, M.K. Skinner, and D.E. Ong Characteristics of retinol accumulation from serum retinol-binding protein by cultured Sertoli cells Biochemistry 28 1989 9641 9647
194. M. Sundaram, A. Sivaprasadarao, M.M. DeSousa, and J.B. Findlay The transfer of retinol from serum retinol-binding protein to cellular retinol-binding protein is mediated by a membrane receptor J. Biol. Chem. 273 1998 3336 3342
195. L. Quadro, W.S. Blaner, L. Hamberger, R.N. Van Gelder, S. Vogel, R. Piantedosi, P. Gouras, V. Colantuoni, and M.E. Gottesman Muscle expression of human retinol-binding protein (RBP) Suppression of the visual defect of RBP knockout mice, J Biol Chem 277 2002 30191 30197
196. R. Kawaguchi, J. Yu, P. Wiita, M. Ter-Stepanian, and H. Sun Mapping the membrane topology and extracellular ligand binding domains of the retinol binding protein receptor Biochemistry 47 2008 5387 5395
197. M. Golczak, A. Maeda, G. Bereta, T. Maeda, P.D. Kiser, S. Hunzelmann, J. von Lintig, W.S. Blaner, and K. Palczewski Metabolic basis of visual cycle inhibition by retinoid and nonretinoid compounds in the vertebrate retina J. Biol. Chem. 283 2008 9543 9554
198. Y. Imanishi, M.L. Batten, D.W. Piston, W. Baehr, and K. Palczewski Noninvasive two-photon imaging reveals retinyl ester storage structures in the eye J. Cell Biol. 164 2004 373 383
199. R.W. Yost, E.H. Harrison, and A.C. Ross Esterification by rat liver microsomes of retinol bound to cellular retinol-binding protein J. Biol. Chem. 263 1988 18693 18701
200. F.M. Herr, and D.E. Ong Differential interaction of lecithin-retinol acyltransferase with cellular retinol binding proteins Biochemistry 31 1992 6748 6755
201. J. Horwitz, and J. Heller Interactions of all-trans, 9-, 11-, and 13-cis-retinal, all-trans-retinyl acetate, and retinoic acid with human retinol-binding protein and prealbumin J. Biol. Chem. 248 1973 6317 6324
202. R. Berni, M. Clerici, G. Malpeli, L. Cleris, and F. Formelli Retinoids: in vitro interaction with retinol-binding protein and influence on plasma retinol FASEB J. 7 1993 1179 1184
203. E.H. Harrison, and M.Z. Gad Hydrolysis of retinyl palmitate by enzymes of rat pancreas and liver. Differentiation of bile salt-dependent and bile salt-independent, neutral retinyl ester hydrolases in rat liver J. Biol. Chem. 264 1989 17142 17147
204. J.P. Mills, H.C. Furr, and S.A. Tanumihardjo Retinol to retinol-binding protein (RBP) is low in obese adults due to elevated apo-RBP Exp. Biol. Med. (Maywood) 233 2008 1255 1261
205. S. Acton, A. Rigotti, K.T. Landschulz, S. Xu, H.H. Hobbs, and M. Krieger Identification of scavenger receptor SR-BI as a high density lipoprotein receptor Science 271 1996 518 520
206. J. Babitt, B. Trigatti, A. Rigotti, E.J. Smart, R.G. Anderson, S. Xu, and M. Krieger Murine SR-BI, a high density lipoprotein receptor that mediates selective lipid uptake, is N-glycosylated and fatty acylated and colocalizes with plasma membrane caveolae J. Biol. Chem. 272 1997 13242 13249
207. M.A. Connelly, M. de la Llera-Moya, P. Monzo, P.G. Yancey, D. Drazul, G. Stoudt, N. Fournier, S.M. Klein, G.H. Rothblat, and D.L. Williams Analysis of chimeric receptors shows that multiple distinct functional activities of scavenger receptor, class B, type I (SR-BI), are localized to the extracellular receptor domain Biochemistry 40 2001 5249 5259
208. L. Quadro, W.S. Blaner, D.J. Salchow, S. Vogel, R. Piantedosi, P. Gouras, S. Freeman, M.P. Cosma, V. Colantuoni, and M.E. Gottesman Impaired retinal function and vitamin A availability in mice lacking retinol-binding protein EMBO J. 18 1999 4633 4644
209. J. Adams Structure-activity and dose-response relationships in the neural and behavioral teratogenesis of retinoids Neurotoxicol. Teratol. 15 1993 193 202
210. H. Nau Teratogenicity of isotretinoin revisited: species variation and the role of all-trans-retinoic acid J. Am. Acad. Dermatol. 45 2001 S183 S187
211. H. Nau, I. Chahoud, L. Dencker, E.J. Lammer, and W.J. Scott Teratogenicity of Vitamin A and Retinoids, Vitamin A in Health and Disease 1994 Marcel Dekker, Inc 615 664
212. A.K. Mallia, J.E. Smith, and D.W. Goodman Metabolism of retinol-binding protein and vitamin A during hypervitaminosis A in the rat J. Lipid Res. 16 1975 180 188
213. F.R. Smith, and D.S. Goodman Vitamin A transport in human vitamin A toxicity N. Engl. J. Med. 294 1976 805 808
214. O. Voolstra, V. Oberhauser, E. Sumser, N.E. Meyer, M.E. Maguire, A. Huber, and J. von Lintig NinaB is essential for Drosophila vision but induces retinal degeneration in opsin-deficient photoreceptors J. Biol. Chem. 285 2010 2130 2139
215. C. Kiefer, E. Sumser, M.F. Wernet, and J. Von Lintig A class B scavenger receptor mediates the cellular uptake of carotenoids in Drosophila Proc. Natl. Acad. Sci. U.S.A. 99 2002 10581 10586
216. O. Voolstra, C. Kiefer, M. Hoehne, R. Welsch, K. Vogt, and J. von Lintig The Drosophila class B scavenger receptor NinaD-I is a cell surface receptor mediating carotenoid transport for visual chromophore synthesis Biochemistry 45 2006 13429 13437
217. T. Wang, Y. Jiao, and C. Montell Dissection of the pathway required for generation of vitamin A and for Drosophila phototransduction J. Cell Biol. 177 2007 305 316
218. G.P. Lobo, S. Hessel, A. Eichinger, N. Noy, A.R. Moise, A. Wyss, K. Palczewski, and J. von Lintig ISX is a retinoic acid-sensitive gatekeeper that controls intestinal beta, beta-carotene absorption and vitamin A production FASEB J. 24 2010 1656 1666
219. T. White, T. Lu, R. Metlapally, J. Katowitz, F. Kherani, T.Y. Wang, K.N. Tran-Viet, and T.L. Young Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia Mol. Vis. 14 2008 2458 2465
220. N. Chassaing, C. Golzio, S. Odent, L. Lequeux, A. Vigouroux, J. Martinovic-Bouriel, F.D. Tiziano, L. Masini, F. Piro, G. Maragliano, A.L. Delezoide, T. Attie-Bitach, S. Manouvrier-Hanu, H.C. Etchevers, and P. Calvas Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia Hum. Mutat. 30 2009 E673 E681
221. R. Gavrilova, N. Babovic, A. Lteif, B. Eidem, S. Kirmani, T. Olson, and D. Babovic-Vuksanovic Vitamin A deficiency in an infant with PAGOD syndrome Am. J. Med. Genet. A 149A 2009 2241 2247
222. R. Segel, E. Levy-Lahad, F. Pasutto, E. Picard, A. Rauch, G. Alterescu, and M.S. Schimmel Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations-what are the minimal criteria? Am. J. Med. Genet. A 149A 2009 2457 2463
223. B. West, K.E. Bove, and A.M. Slavotinek Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration Am. J. Med. Genet. A 149A 2009 539 542
224. J. Casey, R. Kawaguchi, M. Morrissey, H. Sun, P. McGettigan, J. Nielsen, J. Conroy, R. Regan, E. Kenny, P. Cormican, D.W. Morris, P. Tormey, M. Ni Chroinin, B.N. Kennedy, S. Lynch, A. Green, and S. Ennis First implication of STRA6 mutations in isolated anophthalmia, microphthalmia and coloboma: adding a new dimension to the STRA6 phenotype Human Mutation 2011
225. G.R. Cutting Modifier genes in Mendelian disorders: the example of cystic fibrosis Ann. N. Y. Acad. Sci. 1214 2010 57 69
226. Y. Gu, I.T. Harley, L.B. Henderson, B.J. Aronow, I. Vietor, L.A. Huber, J.B. Harley, J.R. Kilpatrick, C.D. Langefeld, A.H. Williams, A.G. Jegga, J. Chen, M. Wills-Karp, S.H. Arshad, S.L. Ewart, C.L. Thio, L.M. Flick, M.D. Filippi, H.L. Grimes, M.L. Drumm, G.R. Cutting, M.R. Knowles, and C.L. Karp Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease Nature 458 2009 1039 1042
227. J.E. Dowling, and G. Wald Vitamin a deficiency and night blindness Proc. Natl. Acad. Sci. U.S.A. 44 1958 648 661
228. G.A. Hyatt, and J.E. Dowling Retinoic acid. A key molecule for eye and photoreceptor development Invest Ophthalmol. Vis. Sci. 38 1997 1471 1475
229. J.E. Dowling Chemistry of visual adaptation in the rat Nature 188 1960 114 118
230. C. Chen, E. Tsina, M.C. Cornwall, R.K. Crouch, S. Vijayaraghavan, and Y. Koutalos Reduction of all-trans retinal to all-trans retinol in the outer segments of frog and mouse rod photoreceptors Biophys. J. 88 2005 2278 2287
231. C. Chen, and Y. Koutalos Rapid formation of all-trans retinol after bleaching in frog and mouse rod photoreceptor outer segments Photochem. Photobiol. Sci. 9 2010 1475 1479
232. D.M. Defoe, and D. Bok Rhodopsin chromophore exchanges among opsin molecules in the dark Invest. Ophthalmol. Vis. Sci. 24 1983 1211 1226
233. V.J. Kefalov, M.E. Estevez, M. Kono, P.W. Goletz, R.K. Crouch, M.C. Cornwall, and K.W. Yau Breaking the covalent bond-a pigment property that contributes to desensitization in cones Neuron 46 2005 879 890
234. A.C. Ross Diet in vitamin A research Methods Mol. Biol. 652 2010 295 313
235. A. During, H.D. Dawson, and E.H. Harrison Carotenoid transport is decreased and expression of the lipid transporters SR-BI, NPC1L1, and ABCA1 is downregulated in Caco-2 cells treated with ezetimibe J. Nutr. 135 2005 2305 2312
236. N. Takahashi, and T.R. Breitman Retinoylation of Proteins in Mammalian Cells R. Blomhoff, Vitamin A in Health and Disease 1994 Marcel Dekker Inc. 257 273
237. Q. Yang, T.E. Graham, N. Mody, F. Preitner, O.D. Peroni, J.M. Zabolotny, K. Kotani, L. Quadro, and B.B. Kahn Serum retinol binding protein 4 contributes to insulin resistance in obesity and type 2 diabetes Nature 436 2005 356 362
238. S. Huang, Y. Li, Y. Chen, K. Podsypanina, M. Chamorro, A.B. Olshen, K.V. Desai, A. Tann, D. Petersen, J.E. Green, and H.E. Varmus Changes in gene expression during the development of mammary tumors in MMTV-Wnt-1 transgenic mice Genome Biol. 6 2005 R84
239. A. Carlson, and D. Bok Promotion of the release of 11-cis-retinal from cultured retinal pigment epithelium by interphotoreceptor retinoid-binding protein Biochemistry 31 1992 9056 9062
240. A. Carlson, and D. Bok Polarity of 11-cis retinal release from cultured retinal pigment epithelium Invest. Ophthalmol. Vis. Sci. 40 1999 533 537
241. N. Wyatt, C. Ponting, J. Dorin, D. Fitzpatrick, and R. Hill Stra6.2: a novel member of the STRA6 gene family Mech. Dev. 126 2009 S259-S259
242. Y. Cheng, and R. Lotan Molecular cloning and characterization of a novel retinoic acid-inducible gene that encodes a putative G protein-coupled receptor J. Biol. Chem. 273 1998 35008 35015