{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T14:52:42Z","timestamp":1790866362993,"version":"4.1.0"},"reference-count":46,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2013,7,18]],"date-time":"2013-07-18T00:00:00Z","timestamp":1374105600000},"content-version":"vor","delay-in-days":412,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"published-print":{"date-parts":[[2012,6]]},"DOI":"10.1016\/j.bbadis.2012.01.014","type":"journal-article","created":{"date-parts":[[2012,2,3]],"date-time":"2012-02-03T01:32:29Z","timestamp":1328232749000},"page":"970-979","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"title":["Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers"],"prefix":"10.1016","volume":"1822","author":[{"given":"Cinzia","family":"Magagnotti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Bachi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianpaolo","family":"Zerbini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Fattore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Fermo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Riba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano C.","family":"Previtali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Ferrari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annapaola","family":"Andolfo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Benedetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbadis.2012.01.014_bb0005","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/6799","article-title":"Mutations in the gene encoding Lamin A\/C cause autosomal dominant Emery\u2013Dreifuss muscular dystrophy","volume":"21","author":"Bonne","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0010","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1093\/hmg\/9.9.1453","article-title":"Identification of mutations in the gene encoding Lamins A\/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)","volume":"9","author":"Muchir","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0015","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1086\/339274","article-title":"Homozygous defects in LMNA, encoding Lamin A\/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot\u2013Marie\u2013Tooth disorder type 2) and mouse","volume":"70","author":"De Sandre-Giovannoli","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0020","doi-asserted-by":"crossref","first-page":"1715","DOI":"10.1056\/NEJM199912023412302","article-title":"Missense mutations in the rod domain of the Lamin A\/C gene as causes of dilated cardiomyopathy and conductionsystem disease","volume":"341","author":"Fatkin","year":"1999","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0025","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1093\/hmg\/9.1.109","article-title":"Nuclear Lamin A\/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy","volume":"9","author":"Cao","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0030","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1086\/341908","article-title":"Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding Lamin A\/C","volume":"71","author":"Novelli","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0035","doi-asserted-by":"crossref","first-page":"2055","DOI":"10.1126\/science.1084125","article-title":"Lamin a truncation in Hutchinson\u2013Gilford progeria","volume":"300","author":"De Sandre-Giovannoli","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.bbadis.2012.01.014_bb0040","doi-asserted-by":"crossref","first-page":"2493","DOI":"10.1093\/hmg\/ddh265","article-title":"Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy","volume":"13","author":"Navarro","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0045","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1212\/01.wnl.0000261254.87181.80","article-title":"Phenotypic clustering of lamin A\/C mutations in neuromuscular patients","volume":"69","author":"Benedetti","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.bbadis.2012.01.014_bb0050","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1172\/JCI200419670","article-title":"Lamin A\/C deficiency causes defective nuclear mechanics and mechanotransduction","volume":"113","author":"Lammerding","year":"2004","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0055","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1172\/JCI200419448","article-title":"Defects in nuclear structure and function promote dilated cardiomyopathy in Lamin A\/C-deficient mice","volume":"113","author":"Nikolova","year":"2004","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0060","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/S0955-0674(03)00050-4","article-title":"The nucleoskeleton: lamins and actin are major players in essential nuclear functions","volume":"15","author":"Shumaker","year":"2003","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0065","doi-asserted-by":"crossref","first-page":"4819","DOI":"10.1021\/bi020704g","article-title":"The carboxyl-terminal region common to lamins A and C contains a DNA binding domain","volume":"42","author":"Stierl\u00e9","year":"2003","journal-title":"Biochemistry"},{"key":"10.1016\/j.bbadis.2012.01.014_bb0070","doi-asserted-by":"crossref","first-page":"1884","DOI":"10.1093\/hmg\/ddm137","article-title":"Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy","volume":"16","author":"Muchir","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0075","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1172\/JCI29042","article-title":"Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery\u2013Dreifuss muscular dystrophy","volume":"117","author":"Muchir","year":"2007","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0080","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1093\/brain\/awl023","article-title":"Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration","volume":"129","author":"Bakay","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.bbadis.2012.01.014_bb0085","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1083\/jcb.200904124","article-title":"Role of A-type lamins in signaling, transcription, and chromatin organization","volume":"187","author":"Andr\u00e9s","year":"2009","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0090","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1083\/jcb.200811035","article-title":"Lamin A\/C-mediated neuromuscular junction defects in Emery\u2013Dreifuss muscular dystrophy","volume":"84","author":"M\u00e9jat","year":"2009","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0095","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1042\/BST0361344","article-title":"Does satellite cell dysfunction contribute to disease progression in Emery\u2013Dreifuss muscular dystrophy?","volume":"36","author":"Gnocchi","year":"2008","journal-title":"Biochem. Soc. Trans."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0100","doi-asserted-by":"crossref","first-page":"2121","DOI":"10.1016\/j.yexcr.2007.03.028","article-title":"\u201cLaminopathies\u201d: a wide spectrum of human diseases","volume":"313","author":"Worman","year":"2007","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0235","first-page":"547","article-title":"Proteomic profiling of pathological and aged skeletal muscle fibres by peptide mass fingerprinting","volume":"19","author":"Doran","year":"2007","journal-title":"Int. J. Mol. Med."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0240","doi-asserted-by":"crossref","DOI":"10.1155\/2010\/648501","article-title":"Proteomic profiling of the dystrophin-deficient MDX heart reveals drastically altered levels of key metabolic and contractile proteins","volume":"2010","author":"Lewis","year":"2010","journal-title":"J. Biomed. Biotechnol."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0115","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1136\/jnnp.2004.046110","article-title":"Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy","volume":"76","author":"Benedetti","year":"2005","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.bbadis.2012.01.014_bb0120","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1007\/s10540-005-2845-1","article-title":"Protein detection methods in proteomics research","volume":"25","author":"Westermeier","year":"2005","journal-title":"Biosci. Rep."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0125","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1021\/ac950914h","article-title":"Mass spectrometric sequencing of proteins silver-stained polyacrylamide gels","volume":"68","author":"Shevchenko","year":"1996","journal-title":"Anal. Chem."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0130","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1515\/CCLM.2010.109","article-title":"Comparison of different depletion strategies for improving resolution of the human urine proteome","volume":"48","author":"Magagnotti","year":"2010","journal-title":"Clin. Chem. Lab. Med."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0135","doi-asserted-by":"crossref","first-page":"2243","DOI":"10.1074\/mcp.M900079-MCP200","article-title":"Proteomics analysis of nucleolar SUMO-1 target proteins upon proteasome inhibition","volume":"8","author":"Matafora","year":"2009","journal-title":"Mol. Cell. Proteomics"},{"key":"10.1016\/j.bbadis.2012.01.014_bb0140","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1152\/physiolgenomics.00101.2005","article-title":"Pathway analysis of coronary atherosclerosis","volume":"23","author":"King","year":"2005","journal-title":"Physiol. Genomics"},{"key":"10.1016\/j.bbadis.2012.01.014_bb0145","doi-asserted-by":"crossref","first-page":"3448","DOI":"10.1093\/bioinformatics\/bti551","article-title":"BiNGO: a Cytoscape plugin to assess overrepresentation of gene ontology categories in biological networks","volume":"21","author":"Maere","year":"2005","journal-title":"Bioinformatics"},{"key":"10.1016\/j.bbadis.2012.01.014_bb0245","series-title":"Introduction to the Multi- and Megavariate Data Analysis Using Projection Methods (PCA & PLS)","author":"Eriksson","year":"1999"},{"key":"10.1016\/j.bbadis.2012.01.014_bb0155","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1006\/excr.2002.5669","article-title":"Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery\u2013Dreifuss muscular dystrophy","volume":"282","author":"Favreau","year":"2003","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0160","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/S0014-4827(03)00104-6","article-title":"Effects of expressing lamin A mutant protein causing Emery\u2013Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells","volume":"286","author":"Bechert","year":"2003","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0165","doi-asserted-by":"crossref","first-page":"5196","DOI":"10.1021\/pr900549a","article-title":"Reduced expression of Lamin A\/C results in modified cell signaling and metabolism coupled with changes in expression of structural proteins","volume":"8","author":"Chen","year":"2009","journal-title":"J. Proteome Res."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0170","doi-asserted-by":"crossref","first-page":"2144","DOI":"10.1016\/j.yexcr.2007.03.026","article-title":"Mouse models of the laminopathies","volume":"313","author":"Stewart","year":"2007","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0175","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1016\/S1471-4914(03)00162-X","article-title":"The strange case of the \u201clumper\u201d Lamin A\/C gene and human premature ageing","volume":"9","author":"Novelli","year":"2003","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0180","doi-asserted-by":"crossref","first-page":"4459","DOI":"10.1242\/jcs.114.24.4459","article-title":"Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q\/W mutations in the Lamin A\/C gene","volume":"114","author":"Vigouroux","year":"2001","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0185","doi-asserted-by":"crossref","first-page":"2567","DOI":"10.1093\/hmg\/ddh295","article-title":"Decreased mechanical stiffness in LMNA\u2212\/\u2212 cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies","volume":"13","author":"Broers","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0190","doi-asserted-by":"crossref","first-page":"2542","DOI":"10.1529\/biophysj.106.102426","article-title":"Nuclear Lamin A\/C deficiency induces defects in cell mechanics, polarization, and migration","volume":"93","author":"Lee","year":"2007","journal-title":"Biophys. J."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0195","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1073\/pnas.1000824108","article-title":"Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement","volume":"108","author":"Folker","year":"2011","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0200","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1152\/physrev.00047.2005","article-title":"Nuclear lamins: laminopathies and their role in premature ageing","volume":"86","author":"Broers","year":"2006","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0205","doi-asserted-by":"crossref","first-page":"5462","DOI":"10.1529\/biophysj.108.139428","article-title":"Dysfunctional connections between the nucleus and the actin and microtubule networks in laminopathic models","volume":"95","author":"Hale","year":"2008","journal-title":"Biophys. J."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0210","doi-asserted-by":"crossref","first-page":"5196","DOI":"10.1021\/pr900549a","article-title":"Reduced expression of lamin A\/C results in modified cell signaling and metabolism coupled with changes in expression of structural proteins","volume":"8","author":"Chen","year":"2009","journal-title":"J. Proteome Res."},{"issue":"4","key":"10.1016\/j.bbadis.2012.01.014_bb0215","doi-asserted-by":"crossref","first-page":"1634","DOI":"10.1210\/jc.2009-1293","article-title":"LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance","volume":"95","author":"Boschmann","year":"2010","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0220","doi-asserted-by":"crossref","first-page":"1677","DOI":"10.1152\/japplphysiol.01145.2006","article-title":"The role of free radicals in the pathophysiology of muscular dystrophy","volume":"102","author":"Tidball","year":"2007","journal-title":"J. Appl. Physiol."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0225","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1080\/10715760601110046","article-title":"Oxidative stress implication in a new phenotype of amyotrophic quadricipital syndrome with cardiac involvement due to lamin A\/C mutation","volume":"41","author":"Charniot","year":"2007","journal-title":"Free. Radic. Res."},{"key":"10.1016\/j.bbadis.2012.01.014_bb0230","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1111\/j.1582-4934.2009.00690.x","article-title":"The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress","volume":"13","author":"Verstraeten","year":"2009","journal-title":"J. Cell. Mol. Med."}],"container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443912000269?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443912000269?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T04:40:27Z","timestamp":1760416827000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0925443912000269"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6]]},"references-count":46,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["S0925443912000269"],"URL":"https:\/\/doi.org\/10.1016\/j.bbadis.2012.01.014","relation":{},"ISSN":["0925-4439"],"issn-type":[{"value":"0925-4439","type":"print"}],"subject":[],"published":{"date-parts":[[2012,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers","name":"articletitle","label":"Article Title"},{"value":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bbadis.2012.01.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}