메뉴 건너뛰기




Volumn 48, Issue 7, 2007, Pages 3372-3380

Differential macular and peripheral expression of bestrophin in human eyes and its implication for Best disease

Author keywords

[No Author keywords available]

Indexed keywords

BESTROPHIN; GLYCOCONJUGATE; LIPID; MESSENGER RNA; PROTEIN; UNCLASSIFIED DRUG; BEST1 PROTEIN, HUMAN; CHLORIDE CHANNEL; EYE PROTEIN;

EID: 34548106017     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.06-0868     Document Type: Article
Times cited : (100)

References (50)
  • 1
    • 84940818625 scopus 로고
    • Über eine hereditare maculaaffektion: Bietrage zur vererbungslehre.
    • Best F. Über eine hereditare maculaaffektion: bietrage zur vererbungslehre. Z Augenheilkd. 1905;13:199-212.
    • (1905) Z Augenheilkd , vol.13 , pp. 199-212
    • Best, F.1
  • 2
    • 0024559346 scopus 로고
    • Fast and slow oscillations of the electro-oculogram in Best's macular dystrophy and retinitis pigmentosa
    • Weleber R. Fast and slow oscillations of the electro-oculogram in Best's macular dystrophy and retinitis pigmentosa. Arch Ophthalmol. 1989;107:530-537.
    • (1989) Arch Ophthalmol , vol.107 , pp. 530-537
    • Weleber, R.1
  • 4
    • 0017112548 scopus 로고
    • Vitelliform dystrophy in a 64 year old man
    • Sorr E, Goldberg R. Vitelliform dystrophy in a 64 year old man. Am J Ophthalmol. 1976;82:256-8.
    • (1976) Am J Ophthalmol , vol.82 , pp. 256-258
    • Sorr, E.1    Goldberg, R.2
  • 5
    • 27744527044 scopus 로고    scopus 로고
    • Late development of vitelliform lesions and flecks in a patient with Best's disease: Clinicopathologic correlation
    • Mullins R, Oh K, Heffron E, Hageman G, Stone E. Late development of vitelliform lesions and flecks in a patient with Best's disease: clinicopathologic correlation. Arch Ophthalmol. 2005;123:1588-1594.
    • (2005) Arch Ophthalmol , vol.123 , pp. 1588-1594
    • Mullins, R.1    Oh, K.2    Heffron, E.3    Hageman, G.4    Stone, E.5
  • 6
    • 16244387640 scopus 로고    scopus 로고
    • Late onset is common in best macular dystrophy associated with VMD2 gene mutations
    • Renner A, Tillack H, Kraus H, et al. Late onset is common in best macular dystrophy associated with VMD2 gene mutations. Ophthalmology. 2005;112:586-592.
    • (2005) Ophthalmology , vol.112 , pp. 586-592
    • Renner, A.1    Tillack, H.2    Kraus, H.3
  • 7
    • 17344364275 scopus 로고    scopus 로고
    • Identification of the gene responsible for Best macular dystrophy
    • Petrukhin K, Koisti M, Bakall B, et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998;19:241-247.
    • (1998) Nat Genet , vol.19 , pp. 241-247
    • Petrukhin, K.1    Koisti, M.2    Bakall, B.3
  • 8
    • 0031709885 scopus 로고    scopus 로고
    • Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)
    • Marquardt A, Stohr H, Passmore L, Kramer F, Rivera A, Weber B. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet. 1998;7:1517-1525.
    • (1998) Hum Mol Genet , vol.7 , pp. 1517-1525
    • Marquardt, A.1    Stohr, H.2    Passmore, L.3    Kramer, F.4    Rivera, A.5    Weber, B.6
  • 9
    • 0033739625 scopus 로고    scopus 로고
    • Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium
    • Marmorstein A, Marmorstein L, Rayborn M, Wang X, Hollyfield J, Petrukhin K. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. Proc Natl Acad Sci USA. 2000;97:12758-12763.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 12758-12763
    • Marmorstein, A.1    Marmorstein, L.2    Rayborn, M.3    Wang, X.4    Hollyfield, J.5    Petrukhin, K.6
  • 10
    • 0142071743 scopus 로고    scopus 로고
    • Structure-function analysis of the bestrophin family of anion channels
    • Tsunenari T, Sun H, Williams J, et al. Structure-function analysis of the bestrophin family of anion channels. J Biol Chem. 2003;278:41114-41125.
    • (2003) J Biol Chem , vol.278 , pp. 41114-41125
    • Tsunenari, T.1    Sun, H.2    Williams, J.3
  • 11
    • 33847699386 scopus 로고    scopus 로고
    • Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane
    • Milenkovic VM, Rivera A, Horling F, Weber BH. Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane. J Biol Chem. 2006;282:1313-1321.
    • (2006) J Biol Chem , vol.282 , pp. 1313-1321
    • Milenkovic, V.M.1    Rivera, A.2    Horling, F.3    Weber, B.H.4
  • 12
    • 26844540936 scopus 로고    scopus 로고
    • Looking chloride channels straight in the eye: Bestrophins, lipofuscinosis, and retinal degeneration
    • Hartzeil C, Qu Z, Putzier I, Artinian L, Chien L, Cui Y. Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration. Physiology. 2005;20:292-302.
    • (2005) Physiology , vol.20 , pp. 292-302
    • Hartzeil, C.1    Qu, Z.2    Putzier, I.3    Artinian, L.4    Chien, L.5    Cui, Y.6
  • 13
    • 0032814442 scopus 로고    scopus 로고
    • Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies
    • Allikmets R, Seddon J, Bernstein P, et al. Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. Hum Genet. 1999;104:449-453.
    • (1999) Hum Genet , vol.104 , pp. 449-453
    • Allikmets, R.1    Seddon, J.2    Bernstein, P.3
  • 14
    • 20244378502 scopus 로고    scopus 로고
    • Allelic variation in the VMD2 gene in best disease and age-related macular degeneration
    • Lotery A, Murder F, Fishman G, et al. Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci. 2000;41:1291-1296.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 1291-1296
    • Lotery, A.1    Murder, F.2    Fishman, G.3
  • 15
    • 0037133670 scopus 로고    scopus 로고
    • The vitelliform macular dystrophy protein defines a new family of chloride channels
    • Sun H, Tsunenari T, Yau K, Nathans J. The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Nat Acad Sci USA. 2002;99:4008-4013.
    • (2002) Proc Nat Acad Sci USA , vol.99 , pp. 4008-4013
    • Sun, H.1    Tsunenari, T.2    Yau, K.3    Nathans, J.4
  • 16
  • 17
    • 0035789510 scopus 로고    scopus 로고
    • A cell culture medium that supports the differentiation of human retinal pigment epithelium into functionally polarized monolayers
    • Hu J, Bok D. A cell culture medium that supports the differentiation of human retinal pigment epithelium into functionally polarized monolayers. Mol Vis. 2001;7:14-19.
    • (2001) Mol Vis , vol.7 , pp. 14-19
    • Hu, J.1    Bok, D.2
  • 18
    • 25444465698 scopus 로고    scopus 로고
    • The effects of amniotic membrane on retinal pigment epithelial cell differentiation
    • Ohno-Matsui K, Ichinose S, Nakahama K, et al. The effects of amniotic membrane on retinal pigment epithelial cell differentiation. Mol Vis. 2005;11:1-10.
    • (2005) Mol Vis , vol.11 , pp. 1-10
    • Ohno-Matsui, K.1    Ichinose, S.2    Nakahama, K.3
  • 19
    • 0842345301 scopus 로고    scopus 로고
    • Two bestrophins cloned from Xenopus laevis oocytes express Ca(2+)activated Cl(-) currents
    • Qu Z, Wei R, Mann W, Hartzell H. Two bestrophins cloned from Xenopus laevis oocytes express Ca(2+)activated Cl(-) currents. J Biol Chem. 2003;278:49563-49572.
    • (2003) J Biol Chem , vol.278 , pp. 49563-49572
    • Qu, Z.1    Wei, R.2    Mann, W.3    Hartzell, H.4
  • 20
    • 5144226606 scopus 로고    scopus 로고
    • Determinants of anion permeation in the second transmembrane domain of the mouse bestrophin-2 chloride channel
    • Qu Z, Hartzell C. Determinants of anion permeation in the second transmembrane domain of the mouse bestrophin-2 chloride channel. J Gen Physiol. 2004;124:371-382.
    • (2004) J Gen Physiol , vol.124 , pp. 371-382
    • Qu, Z.1    Hartzell, C.2
  • 21
    • 12744261265 scopus 로고    scopus 로고
    • Volume sensitivity of the bestrophin family of chloride channels
    • Fischmeister R, Hartzell H. Volume sensitivity of the bestrophin family of chloride channels. J Physiol. 2005;562:477-491.
    • (2005) J Physiol , vol.562 , pp. 477-491
    • Fischmeister, R.1    Hartzell, H.2
  • 22
    • 0013923063 scopus 로고
    • Hereditary vitelliruptive macular degeneration
    • Krill A, Morse P, Potts A, Klien B. Hereditary vitelliruptive macular degeneration. Am J Ophthalmol. 1966;61:1405-1415.
    • (1966) Am J Ophthalmol , vol.61 , pp. 1405-1415
    • Krill, A.1    Morse, P.2    Potts, A.3    Klien, B.4
  • 23
  • 25
    • 33646127365 scopus 로고    scopus 로고
    • The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1)
    • Marmorstein LY, Wu J, McLaughlin P, et al. The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1). J Gen Physiol. 2006;127:577-589.
    • (2006) J Gen Physiol , vol.127 , pp. 577-589
    • Marmorstein, L.Y.1    Wu, J.2    McLaughlin, P.3
  • 26
    • 34250223073 scopus 로고    scopus 로고
    • Bestrophin gene mutations cause canine multifocal retinopathy: A novel animal model for Best disease
    • Guziewicz K, Zangerl B, Lindauer S, et al. Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for Best disease. Invest Ophthalmol Vis Sci. 2007;48:1959-1967.
    • (2007) Invest Ophthalmol Vis Sci , vol.48 , pp. 1959-1967
    • Guziewicz, K.1    Zangerl, B.2    Lindauer, S.3
  • 27
    • 0037331824 scopus 로고    scopus 로고
    • In vivo micropathology of Best macular dystrophy with optical coherence tomography
    • Pianta MJ, Aleman TS, Cideciyan AV, et al. In vivo micropathology of Best macular dystrophy with optical coherence tomography. Exp Eye Res. 2003;76:203-211.
    • (2003) Exp Eye Res , vol.76 , pp. 203-211
    • Pianta, M.J.1    Aleman, T.S.2    Cideciyan, A.V.3
  • 28
    • 0013995463 scopus 로고
    • Multiple vitelliforme netzhautcysten
    • Littann K. Multiple vitelliforme netzhautcysten. Ber Dtsch Ophthalmol Ges. 1965;67:442-446.
    • (1965) Ber Dtsch Ophthalmol Ges , vol.67 , pp. 442-446
    • Littann, K.1
  • 29
    • 33645409461 scopus 로고    scopus 로고
    • Macular and peripheral distribution of ICAM-1 in the human choriocapillaris and retina
    • Mullins R, Skeie J, Malone E, Kuehn M. Macular and peripheral distribution of ICAM-1 in the human choriocapillaris and retina. Mol Vis. 2006;12:224-235.
    • (2006) Mol Vis , vol.12 , pp. 224-235
    • Mullins, R.1    Skeie, J.2    Malone, E.3    Kuehn, M.4
  • 30
    • 26244459662 scopus 로고    scopus 로고
    • Glycoconjugates of choroidal neovascular membranes in age-related macular degeneration
    • Mullins R, Grassi M, Skeie J. Glycoconjugates of choroidal neovascular membranes in age-related macular degeneration. Mol Vis. 2005;11:509-517.
    • (2005) Mol Vis , vol.11 , pp. 509-517
    • Mullins, R.1    Grassi, M.2    Skeie, J.3
  • 31
    • 0033968180 scopus 로고    scopus 로고
    • Basal laminar drusen are indistinguishable in location, substructure, and composition from drusen associated with aging and age-related macular degeneration
    • Russell S, Mullins R, Schneider B, Hageman G. Basal laminar drusen are indistinguishable in location, substructure, and composition from drusen associated with aging and age-related macular degeneration. Am J Ophthalmol. 2000;129:205-214.
    • (2000) Am J Ophthalmol , vol.129 , pp. 205-214
    • Russell, S.1    Mullins, R.2    Schneider, B.3    Hageman, G.4
  • 32
    • 0019965037 scopus 로고
    • Histopathology of Best's macular dystrophy
    • Weingeist T, Kobrin J, Watzke R. Histopathology of Best's macular dystrophy, Arch Ophthalmol. 1982;100:1108-1114.
    • (1982) Arch Ophthalmol , vol.100 , pp. 1108-1114
    • Weingeist, T.1    Kobrin, J.2    Watzke, R.3
  • 33
    • 0034012166 scopus 로고    scopus 로고
    • Ocular drusen contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease
    • Mullins R, Anderson D, Russell S, Hageman G. Ocular drusen contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease. FASEB J. 2000;14:835-846.
    • (2000) FASEB J , vol.14 , pp. 835-846
    • Mullins, R.1    Anderson, D.2    Russell, S.3    Hageman, G.4
  • 34
    • 71849104860 scopus 로고
    • Protein measurement with the folin phenol reagent
    • Lowry O, Rosebrough N, Farr A, Randall R. Protein measurement with the folin phenol reagent. J Biol Chem. 1951;193:265-275.
    • (1951) J Biol Chem , vol.193 , pp. 265-275
    • Lowry, O.1    Rosebrough, N.2    Farr, A.3    Randall, R.4
  • 35
    • 0041842689 scopus 로고    scopus 로고
    • Novel role for a complement regulatory protein (CD46) in retinal pigment epithelial adhesion
    • McLaughlin B, Fan W, Zheng J, et al. Novel role for a complement regulatory protein (CD46) in retinal pigment epithelial adhesion. Invest Ophthalmol Vis Sci. 2003;44:3669-3674.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 3669-3674
    • McLaughlin, B.1    Fan, W.2    Zheng, J.3
  • 36
    • 0028349871 scopus 로고
    • Analysis of lipid deposits extracted from human macular and peripheral Bruch's membrane
    • Holz F, Sheraiadah G, Pauleikhoff D, Marshall J, Bird A. Analysis of lipid deposits extracted from human macular and peripheral Bruch's membrane. Arch Ophthalmol. 1994;112:402-406.
    • (1994) Arch Ophthalmol , vol.112 , pp. 402-406
    • Holz, F.1    Sheraiadah, G.2    Pauleikhoff, D.3    Marshall, J.4    Bird, A.5
  • 37
    • 11144230943 scopus 로고    scopus 로고
    • Decreased thickness and integrity of the macular elastic layer of Bruch's membrane correspond to distribution of lesions associated with AMD
    • Chong N, Keonin J, Luthert P, et al. Decreased thickness and integrity of the macular elastic layer of Bruch's membrane correspond to distribution of lesions associated with AMD. Am J Pathol. 2005;166:241-251.
    • (2005) Am J Pathol , vol.166 , pp. 241-251
    • Chong, N.1    Keonin, J.2    Luthert, P.3
  • 38
    • 0020331540 scopus 로고
    • Three major pathologic processes caused by light in the primate retina: A search for mechanisms
    • Lawwill T. Three major pathologic processes caused by light in the primate retina: a search for mechanisms. Trans Am Ophthalmol Assoc. 1982;80:517-579.
    • (1982) Trans Am Ophthalmol Assoc , vol.80 , pp. 517-579
    • Lawwill, T.1
  • 39
    • 0023272184 scopus 로고
    • Distribution of cones in human and monkey retina: Individual variability and radial asymmetry
    • Curcio CA, Sloan KR Jr, Packer O, Hendrickson AE, Kalina RE. Distribution of cones in human and monkey retina: individual variability and radial asymmetry. Science. 1987;236:579-582.
    • (1987) Science , vol.236 , pp. 579-582
    • Curcio, C.A.1    Sloan Jr, K.R.2    Packer, O.3    Hendrickson, A.E.4    Kalina, R.E.5
  • 40
    • 0034956476 scopus 로고    scopus 로고
    • Photoreceptor topography in ageing and age-related maculopathy
    • Curcio CA. Photoreceptor topography in ageing and age-related maculopathy. Eye. 2001;15:376-383.
    • (2001) Eye , vol.15 , pp. 376-383
    • Curcio, C.A.1
  • 41
    • 0024799262 scopus 로고
    • Histopathologic study of autosomal dominant vitreoretinochoroidopathy: Peripheral annular pigmentary dystrophy of the retina
    • Goldberg MF, Lee FL, Tso MO, Fishman GA. Histopathologic study of autosomal dominant vitreoretinochoroidopathy: peripheral annular pigmentary dystrophy of the retina. Ophthalmology. 1989;96:1736-1746.
    • (1989) Ophthalmology , vol.96 , pp. 1736-1746
    • Goldberg, M.F.1    Lee, F.L.2    Tso, M.O.3    Fishman, G.A.4
  • 42
    • 4644234070 scopus 로고    scopus 로고
    • Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)
    • Yardley J, Leroy B, Hart-Holden N, et al. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004;45:3683-3689.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 3683-3689
    • Yardley, J.1    Leroy, B.2    Hart-Holden, N.3
  • 43
    • 33847295773 scopus 로고    scopus 로고
    • VMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE family
    • Esumi N, Kachi S, Campochiaro PA, Zack DJ. VMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE family. J Biol Chem. 2007;282:1838-1850.
    • (2007) J Biol Chem , vol.282 , pp. 1838-1850
    • Esumi, N.1    Kachi, S.2    Campochiaro, P.A.3    Zack, D.J.4
  • 44
    • 0018818974 scopus 로고
    • Rod and cone disc shedding in the rhesus monkey retina: A quantitative study
    • Anderson DH, Fisher SK, Erickson PA, Tabor GA. Rod and cone disc shedding in the rhesus monkey retina: a quantitative study. Exp Eye Res. 1980;30:559-574.
    • (1980) Exp Eye Res , vol.30 , pp. 559-574
    • Anderson, D.H.1    Fisher, S.K.2    Erickson, P.A.3    Tabor, G.A.4
  • 45
    • 33746739615 scopus 로고    scopus 로고
    • Photoreceptor organization and rhythmic phagocytosis in the Nile rat Arvicanthis ansorgei: A novel diurnal rodent model for the study of cone pathophysiology
    • Bobu C, Craft CM, Masson-Pevet M, Hicks D. Photoreceptor organization and rhythmic phagocytosis in the Nile rat Arvicanthis ansorgei: a novel diurnal rodent model for the study of cone pathophysiology. Invest Ophthalmol Vis Sci. 2006;47:3109-3118.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 3109-3118
    • Bobu, C.1    Craft, C.M.2    Masson-Pevet, M.3    Hicks, D.4
  • 46
    • 0345304309 scopus 로고    scopus 로고
    • Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization in best disease
    • Andrade RE, Farah ME, Costa RA. Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization in best disease. Am J Ophthalmol. 2003;136:1179-1181.
    • (2003) Am J Ophthalmol , vol.136 , pp. 1179-1181
    • Andrade, R.E.1    Farah, M.E.2    Costa, R.A.3
  • 47
    • 0035667184 scopus 로고    scopus 로고
    • Visual outcome following subretinal hemorrhage in Best disease
    • Chung MM, Oh KT, Streb LM, Kimura AE, Stone EM. Visual outcome following subretinal hemorrhage in Best disease. Retina. 2001;21:575-580.
    • (2001) Retina , vol.21 , pp. 575-580
    • Chung, M.M.1    Oh, K.T.2    Streb, L.M.3    Kimura, A.E.4    Stone, E.M.5
  • 48
    • 0028069944 scopus 로고
    • RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function
    • Kemp C, Jacobson S, Cideciyan A, Kimura A, Sheffield V, Stone E. RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function. Invest Ophthalmol Vis Sci. 1994;35:3154-3162.
    • (1994) Invest Ophthalmol Vis Sci , vol.35 , pp. 3154-3162
    • Kemp, C.1    Jacobson, S.2    Cideciyan, A.3    Kimura, A.4    Sheffield, V.5    Stone, E.6
  • 49
    • 0003683395 scopus 로고
    • Hereditary vitelline macular degeneration
    • Braley A, Spivey B. Hereditary vitelline macular degeneration. Arch Ophthalmol. 1964;72:743-762.
    • (1964) Arch Ophthalmol , vol.72 , pp. 743-762
    • Braley, A.1    Spivey, B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.