{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T20:03:05Z","timestamp":1791576185429,"version":"4.3.4"},"reference-count":29,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2012,5,29]],"date-time":"2012-05-29T00:00:00Z","timestamp":1338249600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2012,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the <jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>2C1 gene encoding Ca<jats:sup>2+<\/jats:sup>\/Mn<jats:sup>2+<\/jats:sup> ATPase <jats:styled-content style=\"fixed-case\">SPCA<\/jats:styled-content>1 cause Hailey\u2013Hailey disease (<jats:styled-content style=\"fixed-case\">HHD<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> OMIM<\/jats:styled-content> 16960). <jats:styled-content style=\"fixed-case\">HHD<\/jats:styled-content> is characterized by epidermal acantholysis. We attempted to model HHD using normal keratinocytes, in which the <jats:styled-content style=\"fixed-case\">SPCA<\/jats:styled-content>1 <jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content> was down\u2010regulated with the small inhibitory <jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content> (si<jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content>) method. Si<jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content> inhibition significantly down\u2010regulated the <jats:styled-content style=\"fixed-case\">SPCA<\/jats:styled-content>1 <jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content>, as demonstrated by <jats:styled-content style=\"fixed-case\">qPCR<\/jats:styled-content>, and decreased the <jats:styled-content style=\"fixed-case\">SPCA<\/jats:styled-content>1 protein beyond detectable level, as shown by Western analysis. The expression of selected desmosomal, adherens and tight junction (<jats:styled-content style=\"fixed-case\">TJ<\/jats:styled-content>) proteins was then studied in the SPCA1\u2010deficient and control keratinocytes cultured in low (0.06\u00a0m<jats:sc>m<\/jats:sc>) or high (1.2\u00a0m<jats:sc>m<\/jats:sc>) calcium concentration. The <jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content> and protein levels of most <jats:styled-content style=\"fixed-case\">TJ<\/jats:styled-content> components were up\u2010regulated in non\u2010treated control keratinocyte cultures upon switch from low to high calcium concentration. In contrast, <jats:styled-content style=\"fixed-case\">SPCA<\/jats:styled-content>1\u2010deficient keratinocytes displayed high levels of <jats:styled-content style=\"fixed-case\">TJ<\/jats:styled-content> proteins claudins 1 and 4 even in low calcium. <jats:styled-content style=\"fixed-case\">ZO<\/jats:styled-content>\u20101 did not, however, follow similar expression patterns. Protein levels of occludin, beta\u2010catenin, E\u2010cadherin, desmoplakin, desmogleins 1\u20133, desmocollin 2\/desmocollin 3 and plakoglobin did not show marked changes in <jats:styled-content style=\"fixed-case\">SPCA<\/jats:styled-content>1\u2010deficient keratinocytes. Indirect immunofluorescence labelling revealed delayed translocation of desmoplakin and desmoglein 3 in desmosomes and increased intracellular pools of <jats:styled-content style=\"fixed-case\">TJ<\/jats:styled-content> and desmosomal components in <jats:styled-content style=\"fixed-case\">SPCA<\/jats:styled-content>1\u2010inhibited keratinocytes. The results show that <jats:styled-content style=\"fixed-case\">SPCA<\/jats:styled-content>1 regulates the levels of claudins 1 and 4, but does not affect desmosomal protein levels, indicating that <jats:styled-content style=\"fixed-case\">TJ<\/jats:styled-content> proteins are differently regulated. The results also suggest a potential role for claudins in <jats:styled-content style=\"fixed-case\">HHD<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/j.1600-0625.2012.01520.x","type":"journal-article","created":{"date-parts":[[2012,4,30]],"date-time":"2012-04-30T06:28:48Z","timestamp":1335767328000},"page":"586-591","source":"Crossref","is-referenced-by-count":40,"title":["Hailey\u2013Hailey disease and tight junctions: Claudins 1 and 4 are regulated by <scp>ATP<\/scp>2C1 gene encoding Ca<sup>2+<\/sup>\/Mn<sup>2+<\/sup><scp>ATP<\/scp>ase <scp>SPCA<\/scp>1 in cultured keratinocytes"],"prefix":"10.1111","volume":"21","author":[{"given":"Laura","family":"Raiko","sequence":"first","affiliation":[{"name":"Department of Dermatology University of Turku and Turku University Hospital Turku Finland"},{"name":"Department of Cell Biology and Anatomy University of Turku Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elina","family":"Siljam\u00e4ki","sequence":"additional","affiliation":[{"name":"MediCity Research Laboratory University of Turku Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u1ef9 G.","family":"Mahoney","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Thomas Jefferson University Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heli","family":"Putaala","sequence":"additional","affiliation":[{"name":"DuPont Nutrition &amp; Health Active Nutrition Kantvik Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erkki","family":"Suominen","sequence":"additional","affiliation":[{"name":"Department of Surgery Turku University Hospital Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juha","family":"Peltonen","sequence":"additional","affiliation":[{"name":"Department of Cell Biology and Anatomy University of Turku Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sirkku","family":"Peltonen","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Turku and Turku University Hospital Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,5,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1992.tb00658.x"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1962.01590100107020"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.7.1131"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/71701"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30031"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12528.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2005.06623.x"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M413243200"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2004.07.128"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.127.3.693"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1991.tb00568.x"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2000.03415.x"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2008.381"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2011.01359.x"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.037457"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200110122"},{"key":"e_1_2_8_18_1","doi-asserted-by":"crossref","first-page":"1775","DOI":"10.1242\/dev.129.7.1775","volume":"129","author":"Turksen K","year":"2002","journal-title":"Development"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mod.2005.03.001"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-202x.2001.01493.x"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1078\/0171-9335-00244"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2006.07642.x"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.4081\/dr.2009.e1"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12540422"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2008.73"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1046-2023(03)00155-5"},{"key":"e_1_2_8_27_1","volume-title":"DNA Microarray Data Analysis","author":"Tuimala J","year":"2005"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.4161\/cam.3.2.7539"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1089\/15368590252917629"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200800720"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1600-0625.2012.01520.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1600-0625.2012.01520.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T21:24:37Z","timestamp":1698701077000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1600-0625.2012.01520.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,29]]},"references-count":29,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2012,8]]}},"alternative-id":["10.1111\/j.1600-0625.2012.01520.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1600-0625.2012.01520.x","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"value":"0906-6705","type":"print"},{"value":"1600-0625","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,29]]}}}