{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T17:09:54Z","timestamp":1777655394440,"version":"3.51.4"},"reference-count":62,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2021,10,29]],"date-time":"2021-10-29T00:00:00Z","timestamp":1635465600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Dilated cardiomyopathy (DCM) refers to a spectrum of heterogeneous myocardial disorders characterized by ventricular dilation and depressed myocardial performance in the absence of hypertension, valvular, congenital, or ischemic heart disease. Mutations in LMNA gene, encoding for lamin A\/C, account for 10% of familial DCM. LMNA-related cardiomyopathies are characterized by heterogeneous clinical manifestations that vary from a predominantly structural heart disease, mainly mild-to-moderate left ventricular (LV) dilatation associated or not with conduction system abnormalities, to highly pro-arrhythmic profiles where sudden cardiac death (SCD) occurs as the first manifestation of disease in an apparently normal heart. In the present study, we select, among 77 DCM families referred to our center for genetic counselling and molecular screening, 15 patient heterozygotes for LMNA variants. Segregation analysis in the relatives evidences other eight heterozygous patients. A genotype\u2013phenotype correlation has been performed for symptomatic subjects. Lastly, we perform in vitro functional characterization of two novel LMNA variants using dermal fibroblasts obtained from three heterozygous patients, evidencing significant differences in terms of lamin expression and nuclear morphology. Due to the high risk of SCD that characterizes patients with lamin A\/C cardiomyopathy, genetic testing for LMNA gene variants is highly recommended when there is suspicion of laminopathy.<\/jats:p>","DOI":"10.3390\/jcm10215075","type":"journal-article","created":{"date-parts":[[2021,11,1]],"date-time":"2021-11-01T22:21:34Z","timestamp":1635805294000},"page":"5075","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Clinical Features of LMNA-Related Cardiomyopathy in 18 Patients and Characterization of Two Novel Variants"],"prefix":"10.3390","volume":"10","author":[{"given":"Valentina","family":"Ferradini","sequence":"first","affiliation":[{"name":"Department of Biomedicine and Prevention, University of Rome \u201cTor Vergata\u201d, 00133 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Cosma","sequence":"additional","affiliation":[{"name":"Cardiology Unit, Department of Emergency and Critical Care, Tor Vergata Hospital, 00133 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabiana","family":"Romeo","sequence":"additional","affiliation":[{"name":"Cardiology Unit, Department of Emergency and Critical Care, Tor Vergata Hospital, 00133 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"De Masi","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, University of Rome \u201cTor Vergata\u201d, 00133 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michela","family":"Murdocca","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, University of Rome \u201cTor Vergata\u201d, 00133 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Spitalieri","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, University of Rome \u201cTor Vergata\u201d, 00133 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Mannucci","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, University of Rome \u201cTor Vergata\u201d, 00133 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2275-9670","authenticated-orcid":false,"given":"Giovanni","family":"Parlapiano","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, University of Rome \u201cTor Vergata\u201d, 00133 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Di Lorenzo","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, University of Rome \u201cTor Vergata\u201d, 00133 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annamaria","family":"Martino","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Policlinico Casilino, 00118 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Fedele","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular, Respiratory, Nephrology, Anesthesiology and Geriatric Sciences, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6062-5286","authenticated-orcid":false,"given":"Leonardo","family":"Cal\u00f2","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Policlinico Casilino, 00118 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7781-602X","authenticated-orcid":false,"given":"Giuseppe","family":"Novelli","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, University of Rome \u201cTor Vergata\u201d, 00133 Rome, Italy"},{"name":"Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Neuromed, Pozzilli, 86077 Isernia, Italy"},{"name":"Department of Pharmacology, School of Medicine, University of Nevada, Reno, NV 89557, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6227-4248","authenticated-orcid":false,"given":"Federica","family":"Sangiuolo","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, University of Rome \u201cTor Vergata\u201d, 00133 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruggiero","family":"Mango","sequence":"additional","affiliation":[{"name":"Cardiology Unit, Department of Emergency and Critical Care, Tor Vergata Hospital, 00133 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,10,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1161\/01.CIR.93.5.841","article-title":"Report of the 1995 World Health Organ-ization\/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardio-myopathies","volume":"93","author":"Richardson","year":"1996","journal-title":"Circulation"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1056\/NEJMra0902923","article-title":"Inherited cardiomyopathies","volume":"364","author":"Watkins","year":"2011","journal-title":"N. Engl. J. Med."},{"key":"ref_3","unstructured":"Hershberger, R.E., and Morales, A. (1993). LMNA-Related Dilated Cardiomyopathy. GeneReviews\u00ae, University of Washington."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1016\/S0735-1097(02)01724-2","article-title":"Autosomal dominant dilated cardiomyopathy with atrioventricular block: A lamin A\/C defect-related disease","volume":"39","author":"Arbustini","year":"2002","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/aja.1001190108","article-title":"On the occurrence of a fibrous lamina on the inner aspect of the nuclear envelope in certain cells of vertebrates","volume":"119","author":"Fawcett","year":"1966","journal-title":"Am. J. Anat."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1086\/302542","article-title":"A Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 1q21.2-q21.3","volume":"65","author":"Bouhouche","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"16321","DOI":"10.1016\/S0021-9258(19)85424-8","article-title":"Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C","volume":"268","author":"Lin","year":"1993","journal-title":"J. Biol. Chem."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.3389\/fphys.2018.01356","article-title":"Role of Lamin A\/C Gene Mutations in the Signaling Defects Leading to Cardiomyopathies","volume":"9","author":"Gerbino","year":"2018","journal-title":"Front. Physiol."},{"key":"ref_9","first-page":"3005","article-title":"The nuclear lamina is mechano-responsive to ECM elasticity in mature tissue","volume":"127","author":"Swift","year":"2014","journal-title":"J. Cell Sci."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1146\/annurev-biochem-060614-034115","article-title":"Lamins: Nuclear intermediate filament proteins with fundamental functions in nuclear mechanics and genome regulation","volume":"84","author":"Gruenbaum","year":"2015","journal-title":"Annu. Rev. Biochem."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1111\/j.1399-0004.2006.00677.x","article-title":"The laminopathies: A clinical review","volume":"70","author":"Rankin","year":"2006","journal-title":"Clin. Genet."},{"key":"ref_12","first-page":"320","article-title":"Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome","volume":"39","author":"Murdocca","year":"2020","journal-title":"Acta Myol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.cardfail.2013.03.001","article-title":"Temporal Relationship of Conduction System Disease and Ventricular Dysfunction in LMNA Cardiomyopathy","volume":"19","author":"Brodt","year":"2013","journal-title":"J. Card. Fail."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2308","DOI":"10.1016\/j.jacc.2016.09.922","article-title":"The Significant Arrhythmia and Cardiomyopathy Burden of Lamin A\/C Mutations","volume":"68","author":"Taylor","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1250","DOI":"10.1016\/j.jacc.2008.06.044","article-title":"Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies","volume":"52","author":"Pasotti","year":"2008","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_16","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 conduction-system disease","volume":"341","author":"Fatkin","year":"1999","journal-title":"N. Engl. J. Med."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/S0735-1097(02)02954-6","article-title":"Natural history of dilated cardiomyopathy due to lamin A\/C gene mutations","volume":"41","author":"Taylor","year":"2003","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"22","DOI":"10.15420\/aer.2012.1.22","article-title":"What Should the Cardiologist know about Lamin Disease?","volume":"1","author":"Charron","year":"2012","journal-title":"Arrhythmia Electrophysiol. Rev."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1053\/euhj.1998.1145","article-title":"Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy","volume":"20","author":"Mestroni","year":"1999","journal-title":"Eur. Heart J."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/s12968-020-00607-1","article-title":"Standardized cardiovascular magnetic resonance imaging (CMR) protocols: 2020 update","volume":"22","author":"Kramer","year":"2020","journal-title":"J. Cardiovasc. Magn. Reson."},{"key":"ref_21","first-page":"15","article-title":"Standardized image in-terpretation and post processing in cardiovascular magnetic resonance: Society for Cardiovascular Magnetic Resonance (SCMR) Board of Trustees Task Force on Standardized Post Processing","volume":"1","author":"Bluemke","year":"2013","journal-title":"J. Cardiovasc. Magn. Reson."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1186\/s12968-015-0111-7","article-title":"Normal values for cardiovascular magnetic resonance in adults and children","volume":"17","author":"Maceira","year":"2015","journal-title":"J. Cardiovasc. Magn. Reson."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.yjmcc.2018.03.012","article-title":"Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes","volume":"118","author":"Spitalieri","year":"2018","journal-title":"J. Mol. Cell Cardiol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s00109-004-0589-1","article-title":"Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: Do lamin A\/C mutations portend a high risk of sudden death?","volume":"83","author":"Bonne","year":"2005","journal-title":"J. Mol. Med."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1007\/s00395-008-0748-6","article-title":"Identification of mutational hot spots in LMNA encoding lamin A\/C in patients with familial dilated cardiomyopathy","volume":"104","author":"Perrot","year":"2009","journal-title":"Basic Res. Cardiol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1038\/nrcardio.2013.105","article-title":"Dilated cardiomyopathy: The complexity of a diverse genetic architecture","volume":"10","author":"Hershberger","year":"2013","journal-title":"Nat. Rev. Cardiol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"231","DOI":"10.3389\/fgene.2018.00231","article-title":"Exploring the Crosstalk between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy","volume":"9","author":"Zahr","year":"2018","journal-title":"Front. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1093\/eurheartj\/ehr260","article-title":"Genetics of inherited cardiomyopathy","volume":"33","author":"Jacoby","year":"2011","journal-title":"Eur. Hear. J."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1093\/eurjhf\/hfs191","article-title":"Gender-specific dif-ferences in major cardiac events and mortality in lamin A\/C mutation carriers","volume":"15","author":"Nannenberg","year":"2013","journal-title":"Eur. J. Heart. Fail."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"e001631","DOI":"10.1161\/CIRCGENETICS.116.001631","article-title":"LMNA-related cardiac disease: Late onset with a variable and mild phenotype in a large cohort of patients with the LMNA p.(Arg331Gln) founder mutation","volume":"10","author":"Hoorntje","year":"2017","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/j.jacc.2011.08.078","article-title":"Risk factors for malignant ventricular arrhythmias in lamin a\/c mutation carriers a European cohort study","volume":"59","author":"Arbustini","year":"2012","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"2299","DOI":"10.1016\/j.jacc.2016.08.058","article-title":"Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A\/C Mutation Carriers","volume":"68","author":"Kumar","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"e001893","DOI":"10.1161\/CIRCGEN.117.001893","article-title":"Ion Channel Dysfunctions in Dilated Cardiomyopathy in Limb-Girdle Muscular Dystrophy","volume":"11","author":"Zhao","year":"2018","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1532-429X-13-30","article-title":"Late gadolinium enhanced cardiovascular magnetic resonance of lamin A\/C gene mutation related dilated cardiomyopathy","volume":"13","author":"Jurkko","year":"2011","journal-title":"J. Cardiovasc. Magn. Reson."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"2793","DOI":"10.1093\/eurheartj\/ehv316","article-title":"2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC) Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC)","volume":"36","author":"Priori","year":"2015","journal-title":"Eur. Heart J."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"2699","DOI":"10.1253\/circj.CJ-18-0954","article-title":"Phenotype and Prognosis of the Lamin A\/C Gene (LMNA) Mutation Carriers in Japan","volume":"82","author":"Fujino","year":"2018","journal-title":"Circ. J."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1080\/19491034.2018.1489195","article-title":"Updated clinical overview on cardiac laminopathies: An electrical and mechanical disease","volume":"9","author":"Peretto","year":"2018","journal-title":"Nucleus"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1093\/eurheartj\/ehx596","article-title":"Lamin A\/C cardiomyopathy: Young onset, high penetrance, and frequent need for heart transplantation","volume":"39","author":"Hasselberg","year":"2018","journal-title":"Eur. Heart J."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/europace\/eum263","article-title":"Physical activity, height, and left atrial size are independent risk factors for lone atrial fibrillation in middle-aged healthy individuals","volume":"10","author":"Mont","year":"2008","journal-title":"Europace"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.jcmg.2016.11.003","article-title":"Left Atrial Reverse Remodeling: Mechanisms, Evaluation, and Clinical Significance","volume":"10","author":"Thomas","year":"2017","journal-title":"JACC Cardiovasc. Imaging"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"467","DOI":"10.4065\/76.5.467","article-title":"Left atrial volume: Important risk marker of incident atrial fibrillation in 1,655 older men and women","volume":"76","author":"Tsang","year":"2001","journal-title":"Mayo Clin. Proc."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.1016\/S0735-1097(02)02305-7","article-title":"Determinants and prognostic value of left atrial volume in patients with dilated cardiomyopathy","volume":"40","author":"Rossi","year":"2002","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.amjcard.2003.09.012","article-title":"Risks for atrial fibrillation and congestive heart failure in patients \u226565 years of age with abnormal left ventricular diastolic relaxation","volume":"93","author":"Tsang","year":"2004","journal-title":"Am. J. Cardiol."},{"key":"ref_45","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":"ref_46","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":"ref_47","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.jns.2008.03.017","article-title":"Obliteration of cardiomyocyte nuclear architecture in a patient with LMNA gene mutation","volume":"271","author":"Fidzianska","year":"2008","journal-title":"J. Neurol. Sci."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1007\/s00395-010-0085-4","article-title":"Genetic and ultrastructural studies in dilated cardiomyopathy patients: A large deletion in the lamin A\/C gene is associated with cardiomyocyte nuclear envelope disruption","volume":"105","author":"Gupta","year":"2010","journal-title":"Basic Res. Cardiol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1002\/mus.20122","article-title":"Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A\/C gene mutations","volume":"30","author":"Muchir","year":"2004","journal-title":"Muscle Nerve"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1038\/s41431-018-0294-0","article-title":"Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants","volume":"27","author":"Lindsey","year":"2019","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_51","first-page":"335","article-title":"Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy","volume":"572","author":"Lee","year":"2019","journal-title":"Nat. Cell Biol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/nrm3488","article-title":"The nuclear lamins: Flexibility in function","volume":"14","author":"Burke","year":"2013","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1038\/embor.2012.167","article-title":"Lamins in development, tissue maintenance and stress","volume":"13","author":"Zuela","year":"2012","journal-title":"EMBO Rep."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/978-1-4899-8032-8_9","article-title":"Nuclear Envelope Regulation of Signaling Cascades","volume":"773","author":"Choi","year":"2014","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/978-1-4899-8032-8_6","article-title":"RB and Lamins in Cell Cycle Regulation and Aging","volume":"773","author":"Kennedy","year":"2014","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1007\/978-1-4899-8032-8_19","article-title":"Nuclear Lamins and Oxidative Stress in Cell Proliferation and Longevity","volume":"773","author":"Shimi","year":"2014","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"R1113","DOI":"10.1016\/j.cub.2013.11.009","article-title":"Nuclear Mechanics and Mechanotransduction in Health and Disease","volume":"23","author":"Isermann","year":"2013","journal-title":"Curr. Biol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"309","DOI":"10.5966\/sctm.2011-0010","article-title":"Sp1 transcription factor interaction with accumulated prelamin a impairs adipose lineage differentiation in human mesenchymal stem cells: Essential role of sp1 in the integrity of lipid vesicles","volume":"1","author":"Infante","year":"2012","journal-title":"Stem Cells Transl. Med."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"8963","DOI":"10.1073\/pnas.0402943101","article-title":"Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson\u2013Gilford progeria syndrome","volume":"101","author":"Goldman","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1759","DOI":"10.1038\/sj.cdd.4402197","article-title":"Human lipodystrophies linked to mutations in A-type lamins and to HIV protease inhibitor therapy are both associated with prelamin A accumulation, oxidative stress and premature cellular senescence","volume":"14","author":"Caron","year":"2007","journal-title":"Cell Death Differ."},{"key":"ref_61","first-page":"1","article-title":"Do lamin A and lamin C have unique roles?","volume":"124","author":"Bross","year":"2014","journal-title":"Chromosoma"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1016\/j.bbadis.2012.01.014","article-title":"Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers","volume":"1822","author":"Magagnotti","year":"2012","journal-title":"Biochim. Biophys. Acta (BBA)-Mol. 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