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Among Finnish DCM patients, the founder mutation c.427T&amp;gt;C (p.S143P) is the most frequently reported genetic variant. Here, we show that p.S143P lamin A\/C is more nucleoplasmic and soluble than wild-type lamin A\/C and accumulates into large intranuclear aggregates in a fraction of cultured patient fibroblasts as well as in cells ectopically expressing either FLAG- or GFP-tagged p.S143P lamin A. In fluorescence loss in photobleaching (FLIP) experiments, non-aggregated EGFP-tagged p.S143P lamin A was significantly more dynamic. In in vitro association studies, p.S143P lamin A failed to form appropriate filament structures but instead assembled into disorganized aggregates similar to those observed in patient cell nuclei. A whole-genome expression analysis revealed an elevated unfolded protein response (UPR) in cells expressing p.S143P lamin A\/C. Additional endoplasmic reticulum (ER) stress induced by tunicamycin reduced the viability of cells expressing mutant lamin further. In summary, p.S143P lamin A\/C affects normal lamina structure and influences the cellular stress response, homeostasis and viability.<\/jats:p>","DOI":"10.1242\/jcs.184150","type":"journal-article","created":{"date-parts":[[2016,5,28]],"date-time":"2016-05-28T01:20:08Z","timestamp":1464398408000},"page":"2732-2743","source":"Crossref","is-referenced-by-count":35,"title":["Deleterious assembly of the lamin A\/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy"],"prefix":"10.1242","volume":"129","author":[{"given":"Gun","family":"West","sequence":"first","affiliation":[{"name":"University of Turku and Turku University Hospital 1 Department of Pathology , , 20520 Turku , Finland"},{"name":"MediCity Research Laboratory 2 , 20520 Turku , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josef","family":"Gullmets","sequence":"additional","affiliation":[{"name":"University of Turku and Turku University Hospital 1 Department of Pathology , , 20520 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Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiina","family":"Heli\u00f6","sequence":"additional","affiliation":[{"name":"Heart and Lung Center Helsinki University Hospital and University of Helsinki 8 , 00029 Helsinki , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maija","family":"Kaartinen","sequence":"additional","affiliation":[{"name":"Heart and Lung Center Helsinki University Hospital and University of Helsinki 8 , 00029 Helsinki , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Ollila","sequence":"additional","affiliation":[{"name":"Heart and Lung Center Helsinki University Hospital and University of Helsinki 8 , 00029 Helsinki , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Kuusisto","sequence":"additional","affiliation":[{"name":"University of Eastern Finland 9 Department of Medicine , , 70211 Kuopio , 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