{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T19:15:13Z","timestamp":1718306113049},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2006,2,10]],"date-time":"2006-02-10T00:00:00Z","timestamp":1139529600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurochemistry"],"published-print":{"date-parts":[[2006,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>At least 48 mutations in the <jats:italic>CACNA1F<\/jats:italic> gene encoding retinal Ca<jats:sub>v<\/jats:sub>1.4\u2003L\u2010type Ca<jats:sup>2+<\/jats:sup> channels have been linked to X\u2010linked recessive congenital stationary night blindness type 2 (CSNB2). A large number of these are missense mutations encoding full\u2010length \u03b11\u2010subunits that can potentially form functional channels. We have previously shown that such missense mutations can confer their phenotype by different pathological mechanisms, such as complete lack of \u03b11 subunit protein expression or dramatic changes in channel gating. Here we investigated the functional consequences of CSNB2 missense mutations R508Q and L1364H. We found no (R508Q) or only minor (L1364H) changes in the gating properties of both mutants after heterologous expression in <jats:italic>Xenopus laevis<\/jats:italic> oocytes (at 20\u00b0C). However, both mutants resulted in altered expression density of Ca<jats:sub>v<\/jats:sub>1.4 currents. When expressed in the mammalian cell line tsA\u2010201, the current amplitude of L1364H channels was reduced when cells were grown at 30\u00b0C and both mutations affected total \u03b11 protein expression. This effect was temperature dependent. Our data provide evidence that, in contrast to previously characterized CSNB2 missense mutations, the clinical phenotype of R508Q and L1364H is unlikely to be explained by changes in channel gating. Instead, these mutations affect the protein expression of Ca<jats:sub>v<\/jats:sub>1.4 Ca<jats:sup>2+<\/jats:sup> channels.<\/jats:p>","DOI":"10.1111\/j.1471-4159.2006.03678.x","type":"journal-article","created":{"date-parts":[[2006,2,10]],"date-time":"2006-02-10T15:41:59Z","timestamp":1139586119000},"page":"1648-1658","source":"Crossref","is-referenced-by-count":29,"title":["Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Ca<sub>v<\/sub>1.4\u2003L\u2010type Ca<sup>2+<\/sup> channel function and expression"],"prefix":"10.1111","volume":"96","author":[{"given":"Jean\u2010Charles","family":"Hoda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Zaghetto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anamika","family":"Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Koschak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00f6rg","family":"Striessnig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,2,10]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-0121-3_28"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/947"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0008-4182(00)80031-9"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100461"},{"key":"e_1_2_7_6_1","doi-asserted-by":"crossref","first-page":"3450","DOI":"10.1016\/S0021-9258(18)53715-7","article-title":"Cloning and expression of a third calcium channel beta subunit","volume":"268","author":"Castellano A.","year":"1993","journal-title":"J. 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