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Here, we describe Hailey\u2013Hailey disease (HHD), a blistering skin disorder caused by haploinsufficiency of <jats:italic>ATP2C1<\/jats:italic> as an orthodisease from a <jats:italic>Saccharomyces cerevisiae<\/jats:italic> perspective. <jats:italic>ATP2C1<\/jats:italic> encodes the human secretory pathway Ca<jats:sup>2+<\/jats:sup>\/Mn<jats:sup>2+<\/jats:sup> ATPase hSPCA1 and is orthologous to the <jats:italic>PMR1<\/jats:italic> gene in <jats:italic>S. cerevisiae<\/jats:italic>. hSPCA1 fully complements PMR1 deficiency in yeast and <jats:italic>pmr1<\/jats:italic>\u0394<jats:italic>S. cerevisiae<\/jats:italic> has proved to be a valuable tool to screen <jats:italic>ATP2C1<\/jats:italic> mutations and address potential pathogenic\/pharmacologic mechanisms in HHD. Consequently, this human skin disorder is an ideal example of an orthodisease.<\/jats:p>","DOI":"10.1016\/j.febslet.2005.03.003","type":"journal-article","created":{"date-parts":[[2005,3,17]],"date-time":"2005-03-17T21:23:48Z","timestamp":1111094628000},"page":"2021-2025","source":"Crossref","is-referenced-by-count":33,"title":["Hailey\u2013Hailey disease as an orthodisease of PMR1 deficiency in <i>Saccharomyces cerevisiae<\/i>"],"prefix":"10.1002","volume":"579","author":[{"given":"Richard","family":"Kellermayer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,3,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.2307\/2412448"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20068"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(89)90410-8"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/71701"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.7.1131"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1939.01480220064005"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1992.tb00658.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00105-003-0507-4"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2002.01030.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2000.100542"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2000.03374.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0560.1996.tb01469.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.1995.tb03364.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-202x.2001.01675.x"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-202x.2001.01686.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-202x.2001.01596.x"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M300509200"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-003-1011-5"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0143416002001847"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0143-4160(03)00070-8"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(03)00977-X"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12528.x"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2004.07.128"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30031"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.53.2.393"},{"key":"e_1_2_6_27_1","article-title":"Deficiency of ATP2C1, a golgi ion pump, induces secretory pathway defects in ER-associated degradation and sensitivity to ER-stress","author":"Ramos-Castaneda J.","year":"2004","journal-title":"J. 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