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| 001 | 130863 | ||
| 005 | 20240228143502.0 | ||
| 024 | 7 | _ | |a 10.1242/jcs.184150 |2 doi |
| 024 | 7 | _ | |a pmid:27235420 |2 pmid |
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| 024 | 7 | _ | |a 0021-9533 |2 ISSN |
| 024 | 7 | _ | |a 0370-2952 |2 ISSN |
| 024 | 7 | _ | |a 1477-9137 |2 ISSN |
| 037 | _ | _ | |a DKFZ-2017-05941 |
| 041 | _ | _ | |a eng |
| 082 | _ | _ | |a 570 |
| 100 | 1 | _ | |a West, Gun |b 0 |
| 245 | _ | _ | |a Deleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy. |
| 260 | _ | _ | |a Cambridge |c 2016 |b Company of Biologists Limited |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1522152661_18537 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
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| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a Mutation 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. |
| 536 | _ | _ | |a 312 - Functional and structural genomics (POF3-312) |0 G:(DE-HGF)POF3-312 |c POF3-312 |f POF III |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, |
| 650 | _ | 7 | |a Biomarkers |2 NLM Chemicals |
| 650 | _ | 7 | |a Lamin Type A |2 NLM Chemicals |
| 650 | _ | 7 | |a Mutant Proteins |2 NLM Chemicals |
| 650 | _ | 7 | |a Protein Aggregates |2 NLM Chemicals |
| 650 | _ | 7 | |a lamin C |2 NLM Chemicals |
| 650 | _ | 7 | |a Green Fluorescent Proteins |0 147336-22-9 |2 NLM Chemicals |
| 700 | 1 | _ | |a Gullmets, Josef |b 1 |
| 700 | 1 | _ | |a Virtanen, Laura |b 2 |
| 700 | 1 | _ | |a Li, Song-Ping |b 3 |
| 700 | 1 | _ | |a Keinänen, Anni |b 4 |
| 700 | 1 | _ | |a Shimi, Takeshi |b 5 |
| 700 | 1 | _ | |a Mauermann, Monika |0 P:(DE-He78)c865b84c0142dfa1def7dfeb70302918 |b 6 |u dkfz |
| 700 | 1 | _ | |a Heliö, Tiina |b 7 |
| 700 | 1 | _ | |a Kaartinen, Maija |b 8 |
| 700 | 1 | _ | |a Ollila, Laura |b 9 |
| 700 | 1 | _ | |a Kuusisto, Johanna |b 10 |
| 700 | 1 | _ | |a Eriksson, John E |b 11 |
| 700 | 1 | _ | |a Goldman, Robert D |b 12 |
| 700 | 1 | _ | |a Herrmann, Harald |0 P:(DE-He78)7892a89fee19b8e3912c7423d660765d |b 13 |u dkfz |
| 700 | 1 | _ | |a Taimen, Pekka |0 0000-0001-8849-4604 |b 14 |
| 773 | _ | _ | |a 10.1242/jcs.184150 |g Vol. 129, no. 14, p. 2732 - 2743 |0 PERI:(DE-600)1483099-1 |n 14 |p 2732 - 2743 |t Journal of cell science |v 129 |y 2016 |x 1477-9137 |
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