| 1 | RPE65, SLC27A4
|
| Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65.
|
| Li S, Green JF, Jin M.
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| FEBS Lett. Feb;594(3):540-552. doi: 10.1002/1873-3468.13633. Epub 2019 Oct 20 2020
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| 2 | RPE65
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| RPE65 Palmitoylation: A Tale of Lipid Posttranslational Modification.
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| Uppal S, Poliakov E, Gentleman S, Redmond TM
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| Adv Exp Med Biol. ;1185:537-541. doi: 10.1007/978-3-030-27378-1_88. 2019
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| 3 | RPE65
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| The dual roles of RPE65 S-palmitoylation in membrane association and visual cycle function.
|
| Uppal S, Liu T, Poliakov E, Gentleman S, Redmond TM.
|
| Sci Rep. Mar 26;9(1):5218. doi: 10.1038/s41598-019-41501-w 2019
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| 4 | RP87, RPE65
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| Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa.
|
| Jauregui R, Park KS, Tsang SH.
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| Ophthalmic Genet Aug;39(4):544-549. doi: 10.1080/13816810.2018.1484929 2018
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| 5 | RPE65
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| The Consequences of Hypomorphic RPE65 for Rod and Cone Photoreceptors.
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| Samardzija M, Barben M, Geiger P, Grimm C.
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| Adv Exp Med Biol. 854:341-6. doi: 10.1007/978-3-319-17121-0_45. 2016
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| 6 | RPE65, SLC27A2
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| Inhibition of RPE65 Retinol Isomerase Activity by Inhibitors of Lipid Metabolism.
|
| Eroglu A, Gentleman S, Poliakov E, Redmond TM.
|
| J Biol Chem. Mar 4;291(10):4966-73. doi: 10.1074/jbc.M115.685651. Epub 2015 Dec 30 2016
|
| 7 | RPE65
|
| Identification of key residues determining isomerohydrolase activity of human RPE65
|
| Takahashi Y, Moiseyev G, Ma JX.
|
| J Biol Chem. Sep 26;289(39):26743-51. doi: 10.1074/jbc.M114.558619. Epub 2014 Aug 11. 2014
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| 8 | RPE65
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| Structure of RPE65 isomerase in a lipidic matrix reveals roles for phospholipids and iron in catalysis.
|
| Kiser PD, Farquhar ER, Shi W, Sui X, Chance MR, Palczewski K.
|
| Proc Natl Acad Sci U S A 109(41):E2747-56. doi: 10.1073/pnas.1212025109. Epub 2012 Sep 24.
2012
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| 9 | RPE65
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| The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.
|
| Weleber RG, Michaelides M, Trzupek KM, Stover NB, Stone EM.
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| Invest Ophthalmol Vis Sci. 52(1):292-302. 2011
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| 10 | LRAT, RPE65
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| Cone opsin determines the time course of cone photoreceptor degeneration in Leber congenital amaurosis.
|
| Zhang T, Zhang N, Baehr W, Fu Y.
|
| Proc Natl Acad Sci U S A 108(21):8879-84. Epub 2011 May 9. 2011
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| 11 | MYO7a, RPE65, USH1b
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| The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65.
|
| Lopes VS, Gibbs D, Libby RT, Aleman TS, Welch DL, Lillo C, Jacobson SG, Radu RA, Steel KP, Williams DS.
|
| Hum Mol Genet 20(13):2560-70. Epub 2011 Apr 14. 2011
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| 12 | RPE65
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| Histopathology and functional correlations in a patient with a mutation in RPE65, the gene for retinol isomerase.
|
| Bonilha VL, Rayborn ME, Li Y, Grossman GH, Berson EL, Hollyfield JG.
|
| Invest Ophthalmol Vis Sci. 52(11):8381-92. 2011
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| 13 | RP87, RPE65
|
| A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement
|
| Bowne SJ, Humphries MM, Sullivan LS, Kenna PF, Tam LC, Kiang AS, Campbell M, Weinstock GM, Koboldt DC, Ding L, Fulton RS, Sodergren EJ, Allman D, Millington-Ward S, Palfi A, McKee A, Blanton SH, Slifer S, Konidari I, Farrar GJ, Daiger SP, Humphries P.
|
| Eur J Hum Genet Oct;19(10):1074-81. doi: 10.1038/ejhg.2011.86. Epub 2011 Jun 8. Erratum in: Eur J Hum Genet. 2011 Oct;19(10):1109. 2011
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| 14 | RPE65
|
| Altered expression of retinal molecular markers in the canine RPE65 model of Leber congenital amaurosis.
|
| Hernández M, Pearce-Kelling SE, Rodriguez FD, Aguirre GD, Vecino E.
|
| Invest Ophthalmol Vis Sci. 51(12):6793-802. 2010
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| 15 | RPE65, SLC27A1
|
| FATP1 inhibits 11-cis retinol formation via interaction with the visual cycle retinoid isomerase RPE65 and lecithin:retinol acyltransferase.
|
| Guignard TJ, Jin M, Pequignot MO, Li S, Chassigneux Y, Chekroud K, Guillou L, Richard E, Hamel CP, Brabet P.
|
| J Biol Chem 285(24):18759-68. Epub 2010 Mar 31.
2010
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| 16 | CSRD, RPE65
|
| Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.
|
| Jacobson SG, Aleman TS, Cideciyan AV, Roman AJ, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM.
|
| Invest Ophthalmol Vis Sci. 50(5):2368-75. 2009
|
| 17 | CSRD, RP20, RPE65
|
| In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death.
|
| Samardzija M, Tanimoto N, Kostic C, Beck S, Oberhauser V, Joly S, Thiersch M, Fahl E, Arsenijevic Y, von Lintig J, Wenzel A, Seeliger MW, Grimm C.
|
| Hum Mol Genet. 18(7):1266-75. 2009
|
| 18 | CSRD, LCA2, RP20, RPE65
|
| R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal.
|
| Samardzija M, von Lintig J, Tanimoto N, Oberhauser V, Thiersch M, RemŽ CE, Seeliger M, Grimm C, Wenzel A.
|
| Hum Mol Genet 17(2):281-92. Epub 2007 Oct 12. 2008
|
| 19 | AIPL1, CEP290, CRB1, CRX, GUCY2D, IMPDH1, LRAT, Lebercilin, MERTK, RD3, RDH12, RPE65, RPGRP1, TULP1
|
| Leber congenital amaurosis: genes, proteins and disease mechanisms.
|
| den Hollander AI, Roepman R, Koenekoop RK, Cremers FP
|
| Prog Retin Eye Res. Jul;27(4):391-419 2008
|
| 20 | LCA2, RPE65
|
| Safety and efficacy of gene transfer for Leber's congenital amaurosis.
|
| Maguire AM, Simonelli F, Pierce EA, Pugh EN Jr, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VR, Konkle B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma JX, Redmond TM, Zhu X, Hauck B, Zelenaia O, Shindler KS, Maguire MG, Wright JF, Volpe NJ, McDonnell JW, Auricchio A, High KA, Bennett J.
|
| New Eng. J. Med. 358(21):2240-8. 2008
|
| 21 | LCA2, RPE65
|
| Effect of gene therapy on visual function in Leber's congenital amaurosis.
|
| Bainbridge JW, Smith AJ, Barker SS, Robbie S, Henderson R, Balaggan K, Viswanathan A, Holder GE, Stockman A, Tyler N, Petersen-Jones S, Bhattacharya SS, Thrasher AJ, Fitzke FW, Carter BJ, Rubin GS, Moore AT, Ali RR.
|
| New Eng. J. Med. 358(21):2231-9. 2008
|
| 22 | LCA2, RDH12, RPE65
|
| RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
|
| Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Windsor EA, Roman AJ, Heon E, Stone EM, Thompson DA.
|
| Invest Ophthalmol Vis Sci 48(1):332-8. 2007
|
| 23 | RPE65, LCA2
|
| Human cone photoreceptor dependence on RPE65 isomerase.
|
| Jacobson SG, Aleman TS, Cideciyan AV, Heon E, Golczak M, Beltran WA, Sumaroka A, Schwartz SB, Roman AJ, Windsor EA, Wilson JM, Aguirre GD, Stone EM, Palczewski K.
|
| Proc Natl Acad Sci U S A 104(38):15123-8. Epub 2007 Sep 11. 2007
|
| 24 | RPE65
|
| RPE65 is essential for the function of cone photoreceptors in NRL-deficient mice.
|
| Wenzel A, von Lintig J, Oberhauser V, Tanimoto N, Grimm C, Seeliger MW.
|
| iInvest Ophthalmol Vis Sci. 48(2):534-42. 2007
|
| 25 | RPE65
|
| The roles of three palmitoylation sites of RPE65 in its membrane association and isomerohydrolase activity.
|
| Takahashi Y, Moiseyev G, Chen Y, Ma JX.
|
| Invest Ophthalmol Vis Sci 47(12):5191-6. 2006
|
| 26 | RPE65
|
| Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65.
|
| Chen Y, Moiseyev G, Takahashi Y, Ma JX.
|
| FEBS Lett 580(17):4200-4. Epub 2006 Jul 5. 2006
|
| 27 | RPE65
|
| Rpe65 as a modifier gene for inherited retinal degeneration.
|
| Samardzija M, Wenzel A, Naash M, RemŽ CE, Grimm C.
|
| Eur J Neurosci 23(4):1028-34. 2006
|
| 28 | RPE65, ZNF492
|
| Identification of a KRAB-zinc finger protein binding to the Rpe65 gene promoter.
|
| Lu Z, Poliakov E, Redmond TM.
|
| Curr Eye Res 31(5):457-66. 2006
|
| 29 | RPE65
|
| RPE65 is an iron(II)-dependent isomerohydrolase in the retinoid
visual cycle.
|
| Moiseyev, G., Takahashi, Y., Chen, Y., Gentleman, S., Redmond, T.M., Crouch, R.K.,
Ma, J.X.
|
| J. Biol. Chem. 281, 2835–2840. 2006
|
| 30 | RPE65
|
| Nonvisual light responses in the Rpe65 knockout mouse: rod loss restores sensitivity to the melanopsin system.
|
| Doyle SE, Castrucci AM, McCall M, Provencio I, Menaker M.
|
| Proc Natl Acad Sci U S A. 103(27):10432-7. 2006
|
| 31 | RPE65
|
| Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.
|
| Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Traboulsi EI, Heon E, Pittler SJ, Milam AH, Maguire AM, Palczewski K, Stone EM, Bennett J.
|
| Proc Natl Acad Sci U S A 102(17):6177-82. Epub 2005 Apr 18. 2005
|
| 32 | RPE65, LRAT
|
| RPE65 is the isomerohydrolase in the retinoid visual cycle.
|
| Moiseyev G, Chen Y, Takahashi Y, Wu BX, Ma JX.
|
| Proc Natl Acad Sci U S A 102(35):12413-8. Epub 2005 Aug 22. 2005
|
| 33 | RPE65, LCA2
|
| Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle.
|
| Redmond TM, Poliakov E, Yu S, Tsai JY, Lu Z, Gentleman S.
|
| Proc Natl Acad Sci U S A 102(38):13658-63. Epub 2005 Sep 6. 2005
|
| 34 | RPE65
|
| Expression of RPE65, a putative receptor for plasma retinol-binding protein, in nonmelanocytic skin tumours.
|
| Hinterhuber G, Cauza K, Dingelmaier-Hovorka R, Diem E, Horvat R, Wolff K, Foedinger D.
|
| Br J Dermatol 153(4):785-9. 2005
|
| 35 | RPE65
|
| Identification of conserved histidines and glutamic acid as key residues for isomerohydrolase activity of RPE65, an enzyme of the visual cycle in the retinal pigment epithelium.
|
| Takahashi Y, Moiseyev G, Chen Y, Ma JX.
|
| FEBS Lett 579(24):5414-8. 2005
|
| 36 | RPE65
|
| Downregulation of cone-specific gene expression and degeneration of cone photoreceptors in the Rpe65-/- mouse at early ages.
|
| Znoiko SL, Rohrer B, Lu K, Lohr HR, Crouch RK, Ma JX.
|
| iInvest Ophthalmol Vis Sci. 46(4):1473-9. 2005
|
| 37 | RPE65
|
| Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).
|
| Pang JJ, Chang B, Hawes NL, Hurd RE, Davisson MT, Li J, Noorwez SM, Malhotra R, McDowell JH, Kaushal S, Hauswirth WW, Nusinowitz S, Thompson DA, Heckenlively JR.
|
| Mol Vis. 11:152-62. 2005
|
| 38 | RPE65
|
| Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness.
|
| Acland GM, Aguirre GD, Bennett J, Aleman TS, Cideciyan AV, Bennicelli J, Dejneka NS, Pearce-Kelling SE, Maguire AM, Palczewski K, Hauswirth WW, Jacobson SG.
|
| Mol Ther. 12(6):1072-82. 2005
|
| 39 | RBP1, RPE65
|
| RPE65 of retinal pigment epithelium, a putative receptor molecule for plasma retinol-binding protein, is expressed in human keratinocytes.
|
| Hinterhuber G, Cauza K, Brugger K, Dingelmaier-Hovorka R, Horvat R, Wolff K, Foedinger D.
|
| J Invest Dermatol 122(2):406-13. 2004
|
| 40 | RPE65
|
| A palmitoylation switch mechanism in the regulation of the visual cycle.
|
| Xue L, Gollapalli DR, Maiti P, Jahng WJ, Rando RR.
|
| Cell. 117(6):761-71. 2004
|
| 41 | RPE65
|
| A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.
|
| Yzer S, van den Born LI, Schuil J, Kroes HY, van Genderen MM, Boonstra FN, van den Helm B, Brunner HG, Koenekoop RK, Cremers FP.
|
| J Med Genet 40(9):709-13. 2003
|
| 42 | MERTK, RPE65
|
| Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.
|
| Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath D, Jacobson SG, Gal A.
|
| Am J Hum Genet 70(1):224-9. 2002
|
| 43 | RPE65
|
| Identification of the RPE65 protein in mammalian cone photoreceptors.
|
| Znoiko SL, Crouch RK, Moiseyev G, Ma JX.
|
| Invest Ophthalmol Vis Sci 43(5):1604-9. 2002
|
| 44 | RPE65, LCA2
|
| RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases.
|
| Joseph B, Srinivasan A, Soumittra N, Vidhya A, Shetty NS, Uthra S, Kumaramanickavel G.
|
| J Genet 81(1):19-23. 2002
|
| 45 | RPE65
|
| Recovery of visual functions in a mouse model of Leber congenital amaurosis.
|
| Van Hooser JP, Liang Y, Maeda T, Kuksa V, Jang GF, He YG, Rieke F, Fong HK, Detwiler PB, Palczewski K.
|
| J Biol Chem. 277(21):19173-82. 2002
|
| 46 | RPE65
|
| Gene therapy restores vision in a canine model of childhood blindness.
|
| Acland GM, Aguirre GD, Ray J, Zhang Q, Aleman TS, Cideciyan AV, Pearce-Kelling SE, Anand V, Zeng Y, Maguire AM, Jacobson SG, Hauswirth WW, Bennett J.
|
| Nature Genet. 28(1):92-5. 2001
|
| 47 | LCA2, RPE65
|
| Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.
|
| Lorenz B, Gyurus P, Preising M, Bremser D, Gu S, Andrassi M, Gerth C, Gal A.
|
| Invest Ophthalmol Vis Sci 41(9):2735-42. 2000
|
| 48 | RPE65
|
| Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness.
|
| Van Hooser JP, Aleman TS, He YG, Cideciyan AV, Kuksa V, Pittler SJ, Stone EM, Jacobson SG, Palczewski K.
|
| Proc Natl Acad Sci U S A. 97(15):8623-8. 2000
|
| 49 | GUCY2D, LCA1, LCA2, RPE65
|
| Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis.
|
| Perrault I, Rozet JM, Ghazi I, Leowski C, Bonnemaison M, Gerber S, Ducroq D, Cabot A, Souied E, Dufier JL, Munnich A, Kaplan J.
|
| Am J Hum Genet 64(4):1225-8. 1999
|
| 50 | RPE65
|
| Identification of RPE65 in transformed kidney cells.
|
| Ma JX, Zhang D, Laser M, Brownlee NA, Re GG, Hazen-Martin DJ, Redmond TM, Crouch RK.
|
| FEBS Lett 452(3):199-204. 1999
|
| 51 | GUCY2D, LCA1, LCA2, LCA6, RPE65
|
| Leber Congenital Amaurosis.
|
| Perrault I, Rozet JM, Gerber S, Ghazi I, Leowski C, Ducroq D, Souied E, Dufier JL, Munnich A, Kaplan J.
|
| Mol Genet Metab 68(2):200-208 1999
|
| 52 | LCA2, RP20, RPE65
|
| Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
|
| Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP.
|
| Proc Natl Acad Sci U S A 95(6):3088-93. 1998
|
| 53 | RP20, RPE65
|
| Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.
|
| Marlhens F, Griffoin JM, Bareil C, Arnaud B, Claustres M, Hamel CP.
|
| Eur J Hum Genet 6(5):527-31. 1998
|
| 54 | RPE65
|
| Role of the 3'-untranslated region of RPE65 mRNA in the translational regulation of the RPE65 gene: identification of a specific translation inhibitory element.
|
| Liu SY, Redmond TM.
|
| Arch Biochem Biophys 357(1):37-44. 1998
|
| 55 | RPE65
|
| Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.
|
| Redmond TM, Yu S, Lee E, Bok D, Hamasaki D, Chen N, Goletz P, Ma JX, Crouch RK, Pfeifer K.
|
| Nat Genet 20(4):344-51. 1998
|
| 56 | RPE65
|
| Lack of effect of RPE65 removal on the enzymatic processing of all-trans-retinol into 11-cis-retinol in vitro.
|
| Choo DW, Cheung E, Rando RR.
|
| FEBS Lett 440(1-2):195-8. 1998
|
| 57 | RPE65
|
| Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect.
|
| Aguirre, G. D.; Baldwin, V.; Pearce-Kelling, S.; Narfstrom, K.; Ray, K.; Acland, G. M.
|
| Molec. Vision 4: 23, 199 1998
|
| 58 | LCA2, RPE65
|
| Mutations in RPE65 cause Leber's congenital amaurosis.
|
| Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, Eliaou C, Liu SY, Harris E, Redmond TM, Arnaud B, Claustres M, Hamel CP.
|
| Nat Genet 17(2):139-41. 1997
|
| 59 | RP20, RPE65
|
| Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
|
| Gu SM, Thompson DA, Srikumari CR, Lorenz B, Finckh U, Nicoletti A, Murthy KR, Rathmann M, Kumaramanickavel G, Denton MJ, Gal A.
|
| Nat Genet 17(2):194-7. 1997
|
| 60 | RPE65
|
| Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium.
|
| Nicoletti A, Wong DJ, Kawase K, Gibson LH, Yang-Feng TL, Richards JE, Thompson DA.
|
| Hum Mol Genet 4(4):641-9. 1995
|
| 61 | RPE65
|
| The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3.
|
| Hamel CP, Jenkins NA, Gilbert DJ, Copeland NG, Redmond TM.
|
| Genomics 20(3):509-12. 1994
|
| 62 | RPE65
|
| Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro.
|
| Hamel CP, Tsilou E, Pfeffer BA, Hooks JJ, Detrick B, Redmond TM.
|
| J Biol Chem 268(21):15751-7. 1993
|
| 63 | RPE65
|
| The retinal pigment epithelial membrane receptor for plasma retinol-binding protein. Isolation and cDNA cloning of the 63-kDa protein.
|
| Bavik CO, Levy F, Hellman U, Wernstedt C, Eriksson U.
|
| J Biol Chem 268(27):20540-6. 1993
|