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000130863 0247_ $$2ISSN$$a0370-2952
000130863 0247_ $$2ISSN$$a1477-9137
000130863 037__ $$aDKFZ-2017-05941
000130863 041__ $$aeng
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000130863 1001_ $$aWest, Gun$$b0
000130863 245__ $$aDeleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy.
000130863 260__ $$aCambridge$$bCompany of Biologists Limited$$c2016
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000130863 520__ $$aMutation of the LMNA gene, encoding nuclear lamin A and lamin C (hereafter lamin A/C), is a common cause of familial dilated cardiomyopathy (DCM). Among Finnish DCM patients, the founder mutation c.427T>C (p.S143P) is the most frequently reported genetic variant. Here, we show that p.S143P lamin A/C is more nucleoplasmic and soluble than wild-type lamin A/C and accumulates into large intranuclear aggregates in a fraction of cultured patient fibroblasts as well as in cells ectopically expressing either FLAG- or GFP-tagged p.S143P lamin A. In fluorescence loss in photobleaching (FLIP) experiments, non-aggregated EGFP-tagged p.S143P lamin A was significantly more dynamic. In in vitro association studies, p.S143P lamin A failed to form appropriate filament structures but instead assembled into disorganized aggregates similar to those observed in patient cell nuclei. A whole-genome expression analysis revealed an elevated unfolded protein response (UPR) in cells expressing p.S143P lamin A/C. Additional endoplasmic reticulum (ER) stress induced by tunicamycin reduced the viability of cells expressing mutant lamin further. In summary, p.S143P lamin A/C affects normal lamina structure and influences the cellular stress response, homeostasis and viability.
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000130863 650_7 $$2NLM Chemicals$$aBiomarkers
000130863 650_7 $$2NLM Chemicals$$aLamin Type A
000130863 650_7 $$2NLM Chemicals$$aMutant Proteins
000130863 650_7 $$2NLM Chemicals$$aProtein Aggregates
000130863 650_7 $$2NLM Chemicals$$alamin C
000130863 650_7 $$0147336-22-9$$2NLM Chemicals$$aGreen Fluorescent Proteins
000130863 7001_ $$aGullmets, Josef$$b1
000130863 7001_ $$aVirtanen, Laura$$b2
000130863 7001_ $$aLi, Song-Ping$$b3
000130863 7001_ $$aKeinänen, Anni$$b4
000130863 7001_ $$aShimi, Takeshi$$b5
000130863 7001_ $$0P:(DE-He78)c865b84c0142dfa1def7dfeb70302918$$aMauermann, Monika$$b6$$udkfz
000130863 7001_ $$aHeliö, Tiina$$b7
000130863 7001_ $$aKaartinen, Maija$$b8
000130863 7001_ $$aOllila, Laura$$b9
000130863 7001_ $$aKuusisto, Johanna$$b10
000130863 7001_ $$aEriksson, John E$$b11
000130863 7001_ $$aGoldman, Robert D$$b12
000130863 7001_ $$0P:(DE-He78)7892a89fee19b8e3912c7423d660765d$$aHerrmann, Harald$$b13$$udkfz
000130863 7001_ $$00000-0001-8849-4604$$aTaimen, Pekka$$b14
000130863 773__ $$0PERI:(DE-600)1483099-1$$a10.1242/jcs.184150$$gVol. 129, no. 14, p. 2732 - 2743$$n14$$p2732 - 2743$$tJournal of cell science$$v129$$x1477-9137$$y2016
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