{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T14:02:11Z","timestamp":1753884131342,"version":"3.41.2"},"reference-count":64,"publisher":"The Company of Biologists","license":[{"start":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T00:00:00Z","timestamp":1621296000000},"content-version":"am","delay-in-days":868,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["WE1259\/16-2"],"award-info":[{"award-number":["WE1259\/16-2"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Human bestrophin-1 (BEST1) is an integral membrane protein known to function as a Ca2+-activated and volume-regulated chloride channel. The majority of disease-associated mutations in BEST1 constitute missense mutations and were shown in-vitro to lead to a reduction in mutant protein half-life causing Best disease (BD), a rare autosomal dominant macular dystrophy. To further delineate BEST1-associated pathology in-vivo and to provide an animal model useful to explore experimental treatment efficacies, we have generated a knock-in mouse line (Best1Y227N). Heterozygous and homozygous mutants revealed no significant ocular abnormalities up to 2 years of age. In contrast, knock-in animals demonstrated a severe phenotype in the male reproductive tract. In heterozygous Best1Y227N males, Best1 protein was significantly reduced in testis and almost absent in homozygous mutant mice, although mRNA transcription of wildtype and knock-in allele is present and similar in quantity. Degradation of mutant Best1 protein in testis was associated with adverse effects on sperm motility and the capability to fertilize eggs. Based on these results, we conclude that mice carrying the Best1 Y227N mutation reveal a reproducible pathologic phenotype and thus provide a valuable in-vivo tool to evaluate efficacy of drug therapies aimed at restoring Best1 protein stability and function.<\/jats:p>","DOI":"10.1242\/bio.041335","type":"journal-article","created":{"date-parts":[[2019,6,14]],"date-time":"2019-06-14T15:46:02Z","timestamp":1560527162000},"source":"Crossref","is-referenced-by-count":6,"title":["The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy"],"prefix":"10.1242","author":[{"given":"Andrea","family":"Milenkovic","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Schmied","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoyuki","family":"Tanimoto","sequence":"additional","affiliation":[{"name":"Division of Ocular Neurodegeneration, Centre for Ophthalmology, Institute for Ophthalmic Research, 72076 T\u00fcbingen, Germany"},{"name":"Department of Ophthalmology, University of Kiel, 24105 Kiel, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathias W.","family":"Seeliger","sequence":"additional","affiliation":[{"name":"Division of Ocular Neurodegeneration, Centre for Ophthalmology, Institute for Ophthalmic Research, 72076 T\u00fcbingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janet R.","family":"Sparrow","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Harkness Eye Institute, Columbia University Medical Center, 10032, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8808-7723","authenticated-orcid":false,"given":"Bernhard H. F.","family":"Weber","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"237","published-online":{"date-parts":[[2019,1,1]]},"reference":[{"key":"2021042500053369500_BIO041335C1","first-page":"49","article-title":"Best's vitelliform dystrophy","volume":"11","author":"Blodi","year":"1990","journal-title":"Ophthalmic Paediatr. Genet."},{"key":"2021042500053369500_BIO041335C2","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/j.ajhg.2007.08.004","article-title":"Biallelic mutation of BEST1 causes a distinct retinopathy in humans","volume":"82","author":"Burgess","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"2021042500053369500_BIO041335C3","doi-asserted-by":"publisher","first-page":"9109","DOI":"10.1073\/pnas.0403149101","article-title":"Knock-in human rhodopsin-GFP fusions as mouse models for human disease and targets for gene therapy","volume":"101","author":"Chan","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021042500053369500_BIO041335C4","doi-asserted-by":"publisher","first-page":"3497","DOI":"10.1091\/mbc.e10-07-0601","article-title":"Deficiency in the multicopy Sycp3-like X-linked genes Slx and Slxl1 causes major defects in spermatid differentiation","volume":"21","author":"Cocquet","year":"2010","journal-title":"Mol. Biol. Cell"},{"key":"2021042500053369500_BIO041335C5","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1007\/s10633-018-9627-0","article-title":"Correction to: ISCEV Standard for clinical electro-oculography (2017 update)","volume":"136","author":"Constable","year":"2018","journal-title":"Doc. Ophthalmol."},{"key":"2021042500053369500_BIO041335C6","doi-asserted-by":"publisher","first-page":"977","DOI":"10.1167\/iovs.13-13279","article-title":"Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I","volume":"55","author":"Courtney","year":"2014","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2021042500053369500_BIO041335C7","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1016\/0002-9394(74)90603-5","article-title":"Electro-oculography in Best's macular dystrophy","volume":"77","author":"Cross","year":"1974","journal-title":"Am. J. Ophthalmol."},{"key":"2021042500053369500_BIO041335C8","doi-asserted-by":"publisher","first-page":"10877","DOI":"10.1074\/jbc.M808857200","article-title":"Melanoregulin (MREG) modulates lysosome function in pigment epithelial cells","volume":"284","author":"Damek-Poprawa","year":"2009","journal-title":"J. Biol. Chem."},{"key":"2021042500053369500_BIO041335C9","doi-asserted-by":"publisher","first-page":"4494","DOI":"10.1093\/hmg\/ddw278","article-title":"Effect of genetic background on the phenotype of the Smn2B\/\u2212 mouse model of spinal muscular atrophy","volume":"25","author":"Eshraghi","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"2021042500053369500_BIO041335C10","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1002\/9780470942390.mo140059","article-title":"In vitro fertilization in mice using the MBCD-GSH protocol","volume":"4","author":"Guan","year":"2014","journal-title":"Curr. Protoc. Mouse Biol."},{"key":"2021042500053369500_BIO041335C11","doi-asserted-by":"publisher","first-page":"1959","DOI":"10.1167\/iovs.06-1374","article-title":"Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease","volume":"48","author":"Guziewicz","year":"2007","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2021042500053369500_BIO041335C12","doi-asserted-by":"publisher","first-page":"E2839","DOI":"10.1073\/pnas.1720662115","article-title":"BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure","volume":"115","author":"Guziewicz","year":"2018","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021042500053369500_BIO041335C13","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1038\/ncb983","article-title":"Multiple monoubiquitination of RTKs is sufficient for their endocytosis and degradation","volume":"5","author":"Haglund","year":"2003","journal-title":"Nat. Cell Biol."},{"key":"2021042500053369500_BIO041335C14","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1152\/physrev.00022.2007","article-title":"Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies","volume":"88","author":"Hartzell","year":"2008","journal-title":"Physiol. Rev."},{"key":"2021042500053369500_BIO041335C15","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1002\/mrd.1080410214","article-title":"Preimplantation development of mouse embryos in KSOM: augmentation by amino acids and analysis of gene expression","volume":"41","author":"Ho","year":"1995","journal-title":"Mol. Reprod. Dev."},{"key":"2021042500053369500_BIO041335C16","doi-asserted-by":"publisher","first-page":"780","DOI":"10.1016\/j.ymthe.2017.01.007","article-title":"Gene therapy restores balance and auditory functions in a mouse model of Usher syndrome","volume":"25","author":"Isgrig","year":"2017","journal-title":"Mol. Ther."},{"key":"2021042500053369500_BIO041335C17","doi-asserted-by":"publisher","first-page":"4688","DOI":"10.1093\/hmg\/ddt316","article-title":"Differential effects of Best disease causing missense mutations on bestrophin-1 trafficking","volume":"22","author":"Johnson","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"2021042500053369500_BIO041335C18","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/j.exer.2014.02.006","article-title":"Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1","volume":"121","author":"Johnson","year":"2014","journal-title":"Exp. Eye Res."},{"key":"2021042500053369500_BIO041335C19","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1038\/nature13913","article-title":"Structure and insights into the function of a Ca(2+)-activated Cl(\u2212) channel","volume":"516","author":"Kane Dickson","year":"2014","journal-title":"Nature"},{"key":"2021042500053369500_BIO041335C20","doi-asserted-by":"publisher","first-page":"19273","DOI":"10.1073\/pnas.0708714104","article-title":"The all-trans-retinal dimer series of lipofuscin pigments in retinal pigment epithelial cells in a recessive Stargardt disease model","volume":"104","author":"Kim","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021042500053369500_BIO041335C21","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1038\/sj.ejhg.5200447","article-title":"Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration","volume":"8","author":"Kr\u00e4mer","year":"2000","journal-title":"Eur. J. Hum. Genet."},{"key":"2021042500053369500_BIO041335C22","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1159\/000078016","article-title":"Cloning and characterization of the murine Vmd2 RFP-TM gene family","volume":"105","author":"Kr\u00e4mer","year":"2004","journal-title":"Cytogenet Genome Res."},{"key":"2021042500053369500_BIO041335C23","first-page":"407","article-title":"Circadian nature of rod outer segment disc shedding in the rat","volume":"19","author":"LaVail","year":"1980","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2021042500053369500_BIO041335C24","doi-asserted-by":"publisher","first-page":"790","DOI":"10.1126\/science.1184334","article-title":"Channel-mediated tonic GABA release from glia","volume":"330","author":"Lee","year":"2010","journal-title":"Science"},{"key":"2021042500053369500_BIO041335C25","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1085\/jgp.200509473","article-title":"The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1)","volume":"127","author":"Marmorstein","year":"2006","journal-title":"J. Gen. Physiol."},{"key":"2021042500053369500_BIO041335C26","doi-asserted-by":"publisher","first-page":"2423","DOI":"10.1093\/hmg\/ddm199","article-title":"Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration","volume":"16","author":"Marmorstein","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"2021042500053369500_BIO041335C27","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1016\/j.preteyeres.2009.04.004","article-title":"Functional roles of bestrophins in ocular epithelia","volume":"28","author":"Marmorstein","year":"2009","journal-title":"Prog. Retin. Eye Res."},{"key":"2021042500053369500_BIO041335C28","first-page":"347","article-title":"Bestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium","volume":"21","author":"Marmorstein","year":"2015","journal-title":"Mol. Vis."},{"key":"2021042500053369500_BIO041335C29","doi-asserted-by":"publisher","first-page":"4487","DOI":"10.1038\/s41598-018-21651-z","article-title":"Mutant Best1 expression and impaired phagocytosis in an iPSC Model of autosomal recessive bestrophinopathy","volume":"8","author":"Marmorstein","year":"2018","journal-title":"Sci. Rep."},{"key":"2021042500053369500_BIO041335C30","doi-asserted-by":"publisher","first-page":"1517","DOI":"10.1093\/hmg\/7.9.1517","article-title":"Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)","volume":"7","author":"Marquardt","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"2021042500053369500_BIO041335C31","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1016\/j.exer.2014.01.010","article-title":"Understanding photoreceptor outer segment phagocytosis: use and utility of RPE cells in culture","volume":"126","author":"Mazzoni","year":"2014","journal-title":"Exp. Eye Res."},{"key":"2021042500053369500_BIO041335C32","doi-asserted-by":"publisher","first-page":"2988","DOI":"10.1242\/jcs.085878","article-title":"Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance","volume":"124","author":"Milenkovic","year":"2011","journal-title":"J. Cell Sci."},{"key":"2021042500053369500_BIO041335C33","doi-asserted-by":"publisher","first-page":"E2630","DOI":"10.1073\/pnas.1418840112","article-title":"Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells","volume":"112","author":"Milenkovic","year":"2015","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021042500053369500_BIO041335C34","doi-asserted-by":"publisher","first-page":"1630","DOI":"10.1093\/hmg\/ddy070","article-title":"BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes","volume":"27","author":"Milenkovic","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"2021042500053369500_BIO041335C35","doi-asserted-by":"publisher","first-page":"688","DOI":"10.1016\/S0161-6420(81)34965-3","article-title":"Long-term evaluation of patients with Best's vitelliform dystrophy","volume":"88","author":"Mohler","year":"1981","journal-title":"Ophthalmology"},{"key":"2021042500053369500_BIO041335C36","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1016\/j.exer.2012.12.010","article-title":"Retinal compensatory changes after light damage in albino mice","volume":"18","author":"Montalb\u00e1n-Soler","year":"2012","journal-title":"Mol. Vis."},{"key":"2021042500053369500_BIO041335C37","doi-asserted-by":"publisher","first-page":"2672","DOI":"10.1093\/hmg\/ddw126","article-title":"BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE","volume":"25","author":"Moshfegh","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"2021042500053369500_BIO041335C38","doi-asserted-by":"publisher","first-page":"1588","DOI":"10.1001\/archopht.123.11.1588","article-title":"Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation","volume":"123","author":"Mullins","year":"2005","journal-title":"Arch. Ophthalmol."},{"key":"2021042500053369500_BIO041335C39","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1038\/915","article-title":"Identification of the gene responsible for Best macular dystrophy","volume":"19","author":"Petrukhin","year":"1998","journal-title":"Nat. Genet."},{"key":"2021042500053369500_BIO041335C40","doi-asserted-by":"publisher","first-page":"4611","DOI":"10.1167\/iovs.04-0541","article-title":"Rapid quantification of adult and developing mouse spatial vision using a virtual optomotor system","volume":"45","author":"Prusky","year":"2004","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2021042500053369500_BIO041335C41","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1111\/j.1749-6632.1985.tb37520.x","article-title":"Culture factors affecting the success rate of in vitro fertilization and embryo transfer","volume":"442","author":"Quinn","year":"1985","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"2021042500053369500_BIO041335C42","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/j.preteyeres.2004.06.002","article-title":"The role of omega-3 long-chain polyunsaturated fatty acids in health and disease of the retina","volume":"24","author":"SanGiovanni","year":"2005","journal-title":"Prog. Retin. Eye Res."},{"key":"2021042500053369500_BIO041335C43","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1016\/0925-4773(94)90094-9","article-title":"Mice homozygous for a null mutation of activin \u03b2B are viable and fertile","volume":"47","author":"Schrewe","year":"1994","journal-title":"Mech. Dev."},{"key":"2021042500053369500_BIO041335C44","doi-asserted-by":"publisher","first-page":"1700","DOI":"10.1038\/mt.2015.141","article-title":"Pharmacological modulation of photoreceptor outer segment degradation in a human iPS cell model of inherited macular degeneration","volume":"23","author":"Singh","year":"2015","journal-title":"Mol. Ther."},{"key":"2021042500053369500_BIO041335C45","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/j.preteyeres.2011.12.001","article-title":"The bisretinoids of retinal pigment epithelium","volume":"31","author":"Sparrow","year":"2012","journal-title":"Prog. Retin. Eye Res."},{"key":"2021042500053369500_BIO041335C46","doi-asserted-by":"publisher","first-page":"4008","DOI":"10.1073\/pnas.052692999","article-title":"The vitelliform macular dystrophy protein defines a new family of chloride channels","volume":"99","author":"Sun","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021042500053369500_BIO041335C47","doi-asserted-by":"publisher","first-page":"2071","DOI":"10.1101\/gad.7.11.2071","article-title":"Perinatal lethality and defects in hindbrain development in mice homozygous for a targeted mutation of the zinc finger gene Krox20","volume":"7","author":"Swiatek","year":"1993","journal-title":"Genes Dev."},{"key":"2021042500053369500_BIO041335C48","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1007\/978-1-4939-7720-8_13","article-title":"Assessment of the absolute excitatory level of the retina by flicker ERG","volume":"1753","author":"Tanimoto","year":"2018","journal-title":"Methods Mol. Biol."},{"key":"2021042500053369500_BIO041335C49","doi-asserted-by":"publisher","first-page":"4861","DOI":"10.1523\/JNEUROSCI.4654-11.2012","article-title":"BK channels mediate pathway-specific modulation of visual signals in the in vivo mouse retina","volume":"32","author":"Tanimoto","year":"2012","journal-title":"J. Neurosci."},{"key":"2021042500053369500_BIO041335C50","doi-asserted-by":"publisher","first-page":"10731","DOI":"10.1038\/srep10731","article-title":"Electroretinographic assessment of rod- and cone-mediated bipolar cell pathways using flicker stimuli in mice","volume":"5","author":"Tanimoto","year":"2015","journal-title":"Sci. Rep."},{"key":"2021042500053369500_BIO041335C51","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1016\/S1097-2765(00)80020-9","article-title":"A function for monoubiquitination in the internalization of a G protein-coupled receptor","volume":"1","author":"Terrell","year":"1998","journal-title":"Mol. Cell"},{"key":"2021042500053369500_BIO041335C52","doi-asserted-by":"publisher","first-page":"6904","DOI":"10.1073\/pnas.1524774113","article-title":"Photodegradation of retinal bisretinoids in mouse models and implications for macular degeneration","volume":"113","author":"Ueda","year":"2016","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021042500053369500_BIO041335C53","doi-asserted-by":"publisher","first-page":"1317","DOI":"10.1242\/dmm.024216","article-title":"Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model","volume":"9","author":"Uggenti","year":"2016","journal-title":"Dis. Model. Mech."},{"key":"2021042500053369500_BIO041335C54","doi-asserted-by":"publisher","first-page":"e0125631","DOI":"10.1371\/journal.pone.0125631","article-title":"A comparison of some organizational characteristics of the mouse central retina and the human macula","volume":"10","author":"Volland","year":"2015","journal-title":"PLoS ONE"},{"key":"2021042500053369500_BIO041335C55","first-page":"2732","article-title":"A mouse model for Sorsby fundus dystrophy","volume":"43","author":"Weber","year":"2002","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2021042500053369500_BIO041335C56","doi-asserted-by":"publisher","first-page":"6222","DOI":"10.1073\/pnas.092528599","article-title":"Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure","volume":"99","author":"Weber","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021042500053369500_BIO041335C57","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1016\/j.preteyeres.2006.12.002","article-title":"Ion channels in the RPE","volume":"26","author":"Wimmers","year":"2007","journal-title":"Prog. Retin. Eye Res."},{"key":"2021042500053369500_BIO041335C58","doi-asserted-by":"publisher","first-page":"20155","DOI":"10.1074\/jbc.M109.021345","article-title":"Novel lipofuscin bisretinoids prominent in human retina and in a model of recessive Stargardt disease","volume":"284","author":"Wu","year":"2009","journal-title":"J. Biol. Chem."},{"key":"2021042500053369500_BIO041335C59","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1085\/jgp.200810056","article-title":"Regulation of bestrophin Cl channels by calcium: role of the C terminus","volume":"132","author":"Xiao","year":"2008","journal-title":"J. Gen. Physiol."},{"key":"2021042500053369500_BIO041335C60","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1126\/science.1259723","article-title":"Structure and selectivity in bestrophin ion channels","volume":"346","author":"Yang","year":"2014","journal-title":"Science"},{"key":"2021042500053369500_BIO041335C61","doi-asserted-by":"publisher","first-page":"3683","DOI":"10.1167\/iovs.04-0550","article-title":"Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)","volume":"45","author":"Yardley","year":"2004","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2021042500053369500_BIO041335C62","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1083\/jcb.33.1.61","article-title":"The renewal of photoreceptor cell outer segments","volume":"33","author":"Young","year":"1967","journal-title":"J. Cell Biol."},{"key":"2021042500053369500_BIO041335C63","first-page":"2791","article-title":"Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3)","volume":"16","author":"Zangerl","year":"2010","journal-title":"Mol. Vis."},{"key":"2021042500053369500_BIO041335C64","doi-asserted-by":"publisher","first-page":"1108","DOI":"10.1093\/hmg\/ddp583","article-title":"Suppression of Ca2+ signaling in a mouse model of Best disease","volume":"19","author":"Zhang","year":"2010","journal-title":"Hum. Mol. Genet."}],"container-title":["Biology Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1242\/bio.041335","content-type":"unspecified","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/journals.logists.com\/bio\/bio\/article-pdf\/doi\/10.1242\/bio.041335\/1830456\/bio041335.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/journals.logists.com\/bio\/bio\/article-pdf\/doi\/10.1242\/bio.041335\/2002392\/bio_041335v1.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"http:\/\/journals.logists.com\/bio\/bio\/article-pdf\/doi\/10.1242\/bio.041335\/2002392\/bio_041335v1.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T21:33:42Z","timestamp":1621373622000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.biologists.com\/bio\/article\/doi\/10.1242\/bio.041335\/258529\/The-Y227N-mutation-affects-bestrophin-1-protein"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,1]]},"references-count":64,"URL":"https:\/\/doi.org\/10.1242\/bio.041335","relation":{},"ISSN":["2046-6390"],"issn-type":[{"type":"electronic","value":"2046-6390"}],"subject":[],"published":{"date-parts":[[2019,1,1]]},"article-number":"bio.041335"}}