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Using a stably transfected polarised epithelial cell model, we show that four ARB mutant bestrophin-1 proteins were mislocalised and subjected to proteasomal degradation. In contrast to the wild-type bestrophin-1, each of the four mutant proteins also failed to conduct Cl\u2212 ions in transiently transfected cells as determined by whole-cell patch clamp. We demonstrate that a combination of two clinically approved drugs, bortezomib and 4-phenylbutyrate (4PBA), successfully restored the expression and localisation of all four ARB mutant bestrophin-1 proteins. Importantly, the Cl\u2212 conductance function of each of the mutant bestrophin-1 proteins was fully restored to that of wild-type bestrophin-1 by treatment of cells with 4PBA alone. The functional rescue achieved with 4PBA is significant because it suggests that this drug, which is already approved for long-term use in infants and adults, might represent a promising therapy for the treatment of ARB and other bestrophinopathies resulting from missense mutations in BEST1.<\/jats:p>","DOI":"10.1242\/dmm.024216","type":"journal-article","created":{"date-parts":[[2016,8,13]],"date-time":"2016-08-13T01:39:13Z","timestamp":1471052353000},"page":"1317-1328","source":"Crossref","is-referenced-by-count":22,"title":["Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model"],"prefix":"10.1242","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2673-5120","authenticated-orcid":false,"given":"Carolina","family":"Uggenti","sequence":"first","affiliation":[{"name":"Faculty of Biology, Medicine and Health , , Manchester M13 9PT , UK"},{"name":"The University of Manchester , , Manchester M13 9PT , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kit","family":"Briant","sequence":"additional","affiliation":[{"name":"Faculty of Biology, Medicine and Health , , Manchester M13 9PT , UK"},{"name":"The University of Manchester , , Manchester M13 9PT , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne-Kathrin","family":"Streit","sequence":"additional","affiliation":[{"name":"Faculty of Biology, Medicine and Health , , Manchester M13 9PT , UK"},{"name":"The University of Manchester , , Manchester M13 9PT , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven","family":"Thomson","sequence":"additional","affiliation":[{"name":"Faculty of Biology, Medicine and Health , , Manchester M13 9PT , UK"},{"name":"The University of Manchester , , Manchester M13 9PT , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yee Hui","family":"Koay","sequence":"additional","affiliation":[{"name":"Faculty of Biology, Medicine and Health , , Manchester M13 9PT , UK"},{"name":"The University of Manchester , , Manchester M13 9PT , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8571-4376","authenticated-orcid":false,"given":"Richard A.","family":"Baines","sequence":"additional","affiliation":[{"name":"Faculty of Biology, Medicine and Health , , Manchester M13 9PT , UK"},{"name":"The University of Manchester , , Manchester M13 9PT , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3299-4228","authenticated-orcid":false,"given":"Eileithyia","family":"Swanton","sequence":"additional","affiliation":[{"name":"Faculty of Biology, Medicine and Health , , Manchester M13 9PT , UK"},{"name":"The University of Manchester , , Manchester M13 9PT , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8342-660X","authenticated-orcid":false,"given":"Forbes D.","family":"Manson","sequence":"additional","affiliation":[{"name":"Faculty of Biology, Medicine and Health , , Manchester M13 9PT , UK"},{"name":"The University of Manchester , , Manchester M13 9PT , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"237","reference":[{"key":"2024061302521314800_DMM024216C1","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1007\/s00424-009-0745-0","article-title":"ER-localized bestrophin 1 activates Ca2+-dependent ion channels TMEM16A and SK4 possibly by acting as a counterion channel","volume":"459","author":"Barro-Soria","year":"2010","journal-title":"Pflugers Arch."},{"key":"2024061302521314800_DMM024216C2","doi-asserted-by":"publisher","first-page":"S46","DOI":"10.1067\/mpd.2001.111836","article-title":"Alternative pathway therapy for urea cycle disorders: twenty years later","volume":"138","author":"Batshaw","year":"2001","journal-title":"J. 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