An H, Koh W, Kang S, Nam M, Lee C
Exp Neurobiol. 2021; 30(3):213-221.
PMID: 34132201
PMC: 8278139.
DOI: 10.5607/en21015.
Hufendiek K, Hufendiek K, Jagle H, Stohr H, Book M, Spital G
Int J Mol Sci. 2020; 21(24).
PMID: 33302512
PMC: 7763028.
DOI: 10.3390/ijms21249353.
Frecer V, Iarossi G, Salvetti A, Maltese P, Delledonne G, Oldani M
J Transl Med. 2019; 17(1):330.
PMID: 31570112
PMC: 6771118.
DOI: 10.1186/s12967-019-2080-3.
Samuel W, Jaworski C, Postnikova O, Kutty R, Duncan T, Tan L
Mol Vis. 2017; 23:60-89.
PMID: 28356702
PMC: 5360456.
Arora R, Khan K, Kasilian M, Strauss R, Holder G, Robson A
Am J Ophthalmol. 2016; 169:24-32.
PMID: 27287821
PMC: 5016077.
DOI: 10.1016/j.ajo.2016.05.024.
BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.
Moshfegh Y, Velez G, Li Y, Bassuk A, Mahajan V, Tsang S
Hum Mol Genet. 2016; 25(13):2672-2680.
PMID: 27193166
PMC: 5181636.
DOI: 10.1093/hmg/ddw126.
Structure and selectivity in bestrophin ion channels.
Yang T, Liu Q, Kloss B, Bruni R, Kalathur R, Guo Y
Science. 2014; 346(6207):355-9.
PMID: 25324390
PMC: 4341822.
DOI: 10.1126/science.1259723.
Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.
Doumanov J, Zeitz C, Dominguez Gimenez P, Audo I, Krishna A, Alfano G
Int J Mol Sci. 2013; 14(7):15121-40.
PMID: 23880862
PMC: 3742291.
DOI: 10.3390/ijms140715121.
Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy.
Kay C, Abramoff M, Mullins R, Kinnick T, Lee K, Eyestone M
Arch Ophthalmol. 2011; 130(3):357-64.
PMID: 22084158
PMC: 4702508.
DOI: 10.1001/archophthalmol.2011.363.
Regulation of anterior chamber drainage by bicarbonate-sensitive soluble adenylyl cyclase in the ciliary body.
Lee Y, Tresguerres M, Hess K, Marmorstein L, Levin L, Buck J
J Biol Chem. 2011; 286(48):41353-41358.
PMID: 21994938
PMC: 3308847.
DOI: 10.1074/jbc.M111.284679.
Interaction of bestrophin-1 and Ca2+ channel β-subunits: identification of new binding domains on the bestrophin-1 C-terminus.
Milenkovic V, Krejcova S, Reichhart N, Wagner A, Strauss O
PLoS One. 2011; 6(4):e19364.
PMID: 21559412
PMC: 3084833.
DOI: 10.1371/journal.pone.0019364.
Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.
Cohn A, Turnbull C, Ruddle J, Guymer R, Kearns L, Staffieri S
Eye (Lond). 2010; 25(2):208-17.
PMID: 21109774
PMC: 3169215.
DOI: 10.1038/eye.2010.180.
Multimodal fundus imaging in Best vitelliform macular dystrophy.
Ferrara D, Costa R, Tsang S, Calucci D, Jorge R, Freund K
Graefes Arch Clin Exp Ophthalmol. 2010; 248(10):1377-86.
PMID: 20414784
PMC: 2926169.
DOI: 10.1007/s00417-010-1381-2.
Chloride channels of intracellular membranes.
Edwards J, Kahl C
FEBS Lett. 2010; 584(10):2102-11.
PMID: 20100480
PMC: 2929963.
DOI: 10.1016/j.febslet.2010.01.037.
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.
Querques G, Zerbib J, Santacroce R, Margaglione M, Delphin N, Rozet J
Mol Vis. 2010; 15:2960-72.
PMID: 20057903
PMC: 2802291.
Functional roles of bestrophins in ocular epithelia.
Marmorstein A, Cross H, Peachey N
Prog Retin Eye Res. 2009; 28(3):206-26.
PMID: 19398034
PMC: 2740978.
DOI: 10.1016/j.preteyeres.2009.04.004.
Human disease-causing mutations disrupt an N-C-terminal interaction and channel function of bestrophin 1.
Qu Z, Cheng W, Cui Y, Zheng J
J Biol Chem. 2009; 284(24):16473-16481.
PMID: 19372599
PMC: 2713530.
DOI: 10.1074/jbc.M109.002246.
Rescue of volume-regulated anion current by bestrophin mutants with altered charge selectivity.
Chien L, Hartzell H
J Gen Physiol. 2008; 132(5):537-46.
PMID: 18955594
PMC: 2571971.
DOI: 10.1085/jgp.200810065.
Enhanced inflow and outflow rates despite lower IOP in bestrophin-2-deficient mice.
Zhang Y, Davidson B, Stamer W, Barton J, Marmorstein L, Marmorstein A
Invest Ophthalmol Vis Sci. 2008; 50(2):765-70.
PMID: 18936135
PMC: 2840997.
DOI: 10.1167/iovs.08-2501.
Epithelial phenotype and the RPE: is the answer blowing in the Wnt?.
Burke J
Prog Retin Eye Res. 2008; 27(6):579-95.
PMID: 18775790
PMC: 2584165.
DOI: 10.1016/j.preteyeres.2008.08.002.