{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:08:48Z","timestamp":1791266928734,"version":"4.1.0"},"reference-count":52,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,7,15]],"date-time":"2016-07-15T00:00:00Z","timestamp":1468540800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Fondo per gli Investimenti della Ricerca di Base-Rete Nazionale di Proteomica","award":["RBRN07BMCT_009"],"award-info":[{"award-number":["RBRN07BMCT_009"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Mutations in the Lamin A\/C gene (\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">LMNA<\/jats:styled-content>\n                    <\/jats:italic>\n                    ), which encodes A\u2010type nuclear Lamins, represent the most frequent genetic cause of dilated cardiomyopathy (\n                    <jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content>\n                    ). This study is focused on a\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">LMNA<\/jats:styled-content>\n                    <\/jats:italic>\n                    nonsense mutation (R321X) identified in several members of an Italian family that produces a truncated protein isoform, which co\u2010segregates with a severe form of cardiomyopathy with poor prognosis. However, no molecular mechanisms other than nonsense mediated decay of the messenger and possible haploinsufficiency were proposed to explain\n                    <jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content>\n                    . Aim of this study was to gain more insights into the disease\u2010causing mechanisms induced by the expression of R321X at cellular level. We detected the expression of R321X by Western blotting from whole lysate of a mutation carrier heart biopsy. When expressed in\n                    <jats:styled-content style=\"fixed-case\">HEK<\/jats:styled-content>\n                    293 cells,\n                    <jats:styled-content style=\"fixed-case\">GFP<\/jats:styled-content>\n                    \u2010 (or\n                    <jats:styled-content style=\"fixed-case\">mC<\/jats:styled-content>\n                    herry)\u2010tagged R321X mislocalized in the endoplasmic reticulum (\n                    <jats:styled-content style=\"fixed-case\">ER<\/jats:styled-content>\n                    ) inducing the\n                    <jats:styled-content style=\"fixed-case\">PERK<\/jats:styled-content>\n                    \u2010\n                    <jats:styled-content style=\"fixed-case\">CHOP<\/jats:styled-content>\n                    axis of the\n                    <jats:styled-content style=\"fixed-case\">ER<\/jats:styled-content>\n                    stress response. Of note, confocal microscopy showed phosphorylation of\n                    <jats:styled-content style=\"fixed-case\">PERK<\/jats:styled-content>\n                    in sections of the mutation carrier heart biopsy.\n                    <jats:styled-content style=\"fixed-case\">ER<\/jats:styled-content>\n                    mislocalization of\n                    <jats:styled-content style=\"fixed-case\">mC<\/jats:styled-content>\n                    herry\u2010R321X also induced impaired\n                    <jats:styled-content style=\"fixed-case\">ER<\/jats:styled-content>\n                    Ca\n                    <jats:sup>2+<\/jats:sup>\n                    handling, reduced capacitative Ca\n                    <jats:sup>2+<\/jats:sup>\n                    entry at the plasma membrane and abnormal nuclear Ca\n                    <jats:sup>2+<\/jats:sup>\n                    dynamics. In addition, expression of R321X by itself increased the apoptosis rate. In conclusion, R321X is the first\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">LMNA<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutant identified to date, which mislocalizes into the\n                    <jats:styled-content style=\"fixed-case\">ER<\/jats:styled-content>\n                    affecting cellular homeostasis mechanisms not strictly related to nuclear functions.\n                  <\/jats:p>","DOI":"10.1111\/jcmm.12926","type":"journal-article","created":{"date-parts":[[2016,7,15]],"date-time":"2016-07-15T12:17:39Z","timestamp":1468585059000},"page":"2194-2207","source":"Crossref","is-referenced-by-count":24,"title":["The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca\n                    <sup>2+<\/sup>\n                    handling"],"prefix":"10.1111","volume":"20","author":[{"given":"Monica","family":"Carmosino","sequence":"first","affiliation":[{"name":"Department of Sciences University of Basilicata Potenza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Gerbino","sequence":"additional","affiliation":[{"name":"Department of Biosciences, Biotechnology and Biopharmaceutics University of Bari Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Schena","sequence":"additional","affiliation":[{"name":"Department of Sciences University of Basilicata Potenza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Procino","sequence":"additional","affiliation":[{"name":"Department of Biosciences, Biotechnology and Biopharmaceutics University of Bari Bari 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