{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T04:19:14Z","timestamp":1791433154958,"version":"4.3.3"},"reference-count":82,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,9,9]],"date-time":"2022-09-09T00:00:00Z","timestamp":1662681600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002996","name":"Hartstichting","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002996","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003246","name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003246","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cell Dev. Biol."],"abstract":"<jats:p>Desmin (<jats:italic>DES<\/jats:italic>) is a classical type III intermediate filament protein encoded by the <jats:italic>DES<\/jats:italic> gene. Desmin is abundantly expressed in cardiac, skeletal, and smooth muscle cells. In these cells, desmin interconnects several protein-protein complexes that cover cell-cell contact, intracellular organelles such as mitochondria and the nucleus, and the cytoskeletal network. The extra- and intracellular localization of the desmin network reveals its crucial role in maintaining the structural and mechanical integrity of cells. In the heart, desmin is present in specific structures of the cardiac conduction system including the sinoatrial node, atrioventricular node, and His-Purkinje system. Genetic variations and loss of desmin drive a variety of conditions, so-called desminopathies, which include desmin-related cardiomyopathy, conduction system-related atrial and ventricular arrhythmias, and sudden cardiac death. The severe cardiac disease outcomes emphasize the clinical need to understand the molecular and cellular role of desmin driving desminopathies. As the role of desmin in cardiomyopathies has been discussed thoroughly, the current review is focused on the role of desmin impairment as a trigger for cardiac arrhythmias. Here, the molecular and cellular mechanisms of desmin to underlie a healthy cardiac conduction system and how impaired desmin triggers cardiac arrhythmias, including atrial fibrillation, are discussed. Furthermore, an overview of available (genetic) desmin model systems for experimental cardiac arrhythmia studies is provided. Finally, potential implications for future clinical treatments of cardiac arrhythmias directed at desmin are highlighted.<\/jats:p>","DOI":"10.3389\/fcell.2022.986718","type":"journal-article","created":{"date-parts":[[2022,9,9]],"date-time":"2022-09-09T07:04:51Z","timestamp":1662707091000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":35,"title":["Desmin variants: Trigger for cardiac arrhythmias?"],"prefix":"10.3389","volume":"10","author":[{"given":"Wei","family":"Su","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stan W.","family":"van Wijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca J. J. M.","family":"Brundel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,9,9]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"699597","DOI":"10.3389\/fcell.2021.699597","article-title":"The potential of CRISPR\/Cas9 gene editing as a treatment strategy for inherited diseases","volume":"9","author":"Abdelnour","year":"2021","journal-title":"Front. Cell. Dev. Biol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.1002\/humu.24265","article-title":"Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction","volume":"42","author":"Abou Ziki","year":"2021","journal-title":"Hum. Mutat."},{"key":"B3","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1002\/cm.1020","article-title":"Lack of desmin results in abortive muscle regeneration and modifications in synaptic structure","volume":"49","author":"Agbulut","year":"2001","journal-title":"Cell. Motil. Cytoskelet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1016\/j.ejheart.2005.11.003","article-title":"Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects","volume":"8","author":"Arbustini","year":"2006","journal-title":"Eur. J. Heart Fail."},{"key":"B5","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1002\/humu.20459","article-title":"Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies","volume":"28","author":"B\u00e4r","year":"2007","journal-title":"Hum. Mutat."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1188","DOI":"10.1016\/j.jmb.2010.02.024","article-title":"Mutations in desmin's carboxy-terminal \"tail\" domain severely modify filament and network mechanics","volume":"397","author":"B\u00e4r","year":"2010","journal-title":"J. Mol. Biol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/j.jsb.2004.04.003","article-title":"The biology of desmin filaments: How do mutations affect their structure, assembly, and organisation?","volume":"148","author":"B\u00e4r","year":"2004","journal-title":"J. Struct. Biol."},{"key":"B8","doi-asserted-by":"publisher","first-page":"e3","DOI":"10.1590\/s0066-782x2012000100017","article-title":"Atrioventricular block pathology in cardiomyopathy by desmin deposition","volume":"98","author":"Benvenuti","year":"2012","journal-title":"Arq. Bras. Cardiol."},{"key":"B9","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1161\/circgenetics.113.000103","article-title":"The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death","volume":"6","author":"Brodehl","year":"2013","journal-title":"Circ. Cardiovasc. Genet."},{"key":"B10","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1002\/humu.23248","article-title":"The novel \u03b1B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy","volume":"38","author":"Brodehl","year":"2017","journal-title":"Hum. Mutat."},{"key":"B11","doi-asserted-by":"publisher","first-page":"983","DOI":"10.1007\/s12551-018-0429-0","article-title":"Molecular insights into cardiomyopathies associated with desmin (DES) mutations","volume":"10","author":"Brodehl","year":"2018","journal-title":"Biophys. Rev."},{"key":"B12","doi-asserted-by":"publisher","first-page":"1400","DOI":"10.3390\/biomedicines9101400","article-title":"The desmin mutation DES-c.735G>C causes severe restrictive cardiomyopathy by inducing in-frame skipping of exon-3","volume":"9","author":"Brodehl","year":"2021","journal-title":"Biomedicines"},{"key":"B13","doi-asserted-by":"publisher","first-page":"E918","DOI":"10.3390\/genes10110918","article-title":"Restrictive cardiomyopathy is caused by a novel homozygous desmin (DES) mutation p.Y122H leading to a severe filament assembly defect","volume":"10","author":"Brodehl","year":"2019","journal-title":"Genes (Basel)"},{"key":"B14","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1016\/s0008-6363(02)00289-4","article-title":"Activation of proteolysis by calpains and structural changes in human paroxysmal and persistent atrial fibrillation","volume":"54","author":"Brundel","year":"","journal-title":"Cardiovasc. Res."},{"key":"B15","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1016\/s0008-6363(02)00222-5","article-title":"Molecular mechanisms of remodeling in human atrial fibrillation","volume":"54","author":"Brundel","year":"","journal-title":"Cardiovasc. Res."},{"key":"B16","doi-asserted-by":"publisher","first-page":"e0137009","DOI":"10.1371\/journal.pone.0137009","article-title":"Antioxidant treatment and induction of autophagy cooperate to reduce desmin aggregation in a cellular model of desminopathy","volume":"10","author":"Cabet","year":"2015","journal-title":"PLoS One"},{"key":"B17","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/j.ceb.2015.01.004","article-title":"Desmin related disease: A matter of cell survival failure","volume":"32","author":"Capetanaki","year":"2015","journal-title":"Curr. Opin. Cell. Biol."},{"key":"B18","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1007\/s00401-002-0583-z","article-title":"Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation","volume":"104","author":"Carlsson","year":"2002","journal-title":"Acta Neuropathol."},{"key":"B19","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1242\/jcs.108.1.153","article-title":"Direct involvement of a lamin-B-related (54 kDa) protein in the association of intermediate filaments with the postsynaptic membrane of the Torpedo marmorata electrocyte","volume":"108","author":"Cartaud","year":"1995","journal-title":"J. Cell. Sci."},{"key":"B20","doi-asserted-by":"publisher","first-page":"117119","DOI":"10.1016\/j.lfs.2019.117119","article-title":"The role of desmin alterations in mechanical electrical feedback in heart failure","volume":"241","author":"Chen","year":"2020","journal-title":"Life Sci."},{"key":"B21","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1016\/j.hrcr.2020.10.003","article-title":"DES mutation associated with cardiac hypertrophy and alternating bundle branch block","volume":"7","author":"Chen","year":"2021","journal-title":"Hear. Case Rep."},{"key":"B22","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1186\/s12967-017-1180-1","article-title":"Novel trigenic CACNA1C\/DES\/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome","volume":"15","author":"Chen","year":"2017","journal-title":"J. Transl. Med."},{"key":"B23","doi-asserted-by":"publisher","first-page":"886","DOI":"10.1016\/j.yexcr.2011.01.013","article-title":"Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly","volume":"317","author":"Chourbagi","year":"2011","journal-title":"Exp. Cell. Res."},{"key":"B24","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1007\/s00418-008-0523-7","article-title":"Expression of nestin, desmin and vimentin in intact and regenerating muscle spindles of rat hind limb skeletal muscles","volume":"131","author":"C\u00edzkov\u00e1","year":"2009","journal-title":"Histochem. Cell. Biol."},{"key":"B25","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1007\/s00401-012-1057-6","article-title":"Desminopathies: Pathology and mechanisms","volume":"125","author":"Clemen","year":"2013","journal-title":"Acta Neuropathol."},{"key":"B26","doi-asserted-by":"publisher","first-page":"834","DOI":"10.1091\/mbc.e08-07-0753","article-title":"A myopathy-linked desmin mutation perturbs striated muscle actin filament architecture","volume":"20","author":"Conover","year":"2009","journal-title":"Mol. Biol. Cell."},{"key":"B27","doi-asserted-by":"publisher","first-page":"8122","DOI":"10.3390\/ijms21218122","article-title":"Desmin interacts directly with mitochondria","volume":"21","author":"Dayal","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"B28","doi-asserted-by":"publisher","first-page":"3705","DOI":"10.1242\/jcs.192203","article-title":"Desmin and \u03b1B-crystallin interplay in the maintenance of mitochondrial homeostasis and cardiomyocyte survival","volume":"129","author":"Diokmetzidou","year":"2016","journal-title":"J. Cell. Sci."},{"key":"B29","doi-asserted-by":"publisher","first-page":"20120375","DOI":"10.1098\/rstb.2012.0375","article-title":"The specificity of the interaction between \u03b1B-crystallin and desmin filaments and its impact on filament aggregation and cell viability","volume":"368","author":"Elliott","year":"2013","journal-title":"Philos. Trans. R. Soc. Lond. B Biol. Sci."},{"key":"B30","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1097\/cm9.0000000000000001","article-title":"A novel phenotype with splicing mutation identified in a Chinese family with desminopathy","volume":"132","author":"Fan","year":"2019","journal-title":"Chin. Med. J."},{"key":"B31","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/j.ijcard.2020.12.050","article-title":"Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death","volume":"329","author":"Fischer","year":"2021","journal-title":"Int. J. Cardiol."},{"key":"B32","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1016\/j.yjmcc.2018.10.017","article-title":"Amelioration of desmin network defects by \u03b1B-crystallin overexpression confers cardioprotection in a mouse model of dilated cardiomyopathy caused by LMNA gene mutation","volume":"125","author":"Galata","year":"2018","journal-title":"J. Mol. Cell. Cardiol."},{"key":"B33","doi-asserted-by":"publisher","first-page":"1588","DOI":"10.1016\/j.biocel.2012.02.022","article-title":"The small heat shock proteins family: The long forgotten chaperones","volume":"44","author":"Garrido","year":"2012","journal-title":"Int. J. Biochem. Cell. Biol."},{"key":"B34","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1083\/jcb.105.1.117","article-title":"Lamin B constitutes an intermediate filament attachment site at the nuclear envelope","volume":"105","author":"Georgatos","year":"1987","journal-title":"J. Cell. Biol."},{"key":"B35","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1038\/1300","article-title":"Missense mutations in desmin associated with familial cardiac and skeletal myopathy","volume":"19","author":"Goldfarb","year":"1998","journal-title":"Nat. Genet."},{"key":"B36","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1093\/brain\/awh033","article-title":"Desmin myopathy","volume":"127","author":"Goldfarb","year":"2004","journal-title":"Brain"},{"key":"B37","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1016\/0092-8674(80)90549-8","article-title":"Synemin: A new high molecular weight protein associated with desmin and vimentin filaments in muscle","volume":"22","author":"Granger","year":"1980","journal-title":"Cell."},{"key":"B38","doi-asserted-by":"publisher","first-page":"984","DOI":"10.1038\/ejhg.2012.39","article-title":"Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation","volume":"20","author":"Hedberg","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"B39","doi-asserted-by":"publisher","first-page":"e10","DOI":"10.1161\/circresaha.119.315582","article-title":"A balance between intermediate filaments and microtubules maintains nuclear architecture in the cardiomyocyte","volume":"126","author":"Heffler","year":"2020","journal-title":"Circ. Res."},{"key":"B40","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1038\/nrcardio.2017.89","article-title":"Proteostasis in cardiac health and disease","volume":"14","author":"Henning","year":"2017","journal-title":"Nat. Rev. Cardiol."},{"key":"B41","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1146\/annurev.biochem.73.011303.073823","article-title":"Intermediate filaments: Molecular structure, assembly mechanism, and integration into functionally distinct intracellular scaffolds","volume":"73","author":"Herrmann","year":"2004","journal-title":"Annu. Rev. Biochem."},{"key":"B42","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1007\/s00441-014-2016-4","article-title":"Desmin in muscle and associated diseases: Beyond the structural function","volume":"360","author":"Hnia","year":"2015","journal-title":"Cell. Tissue Res."},{"key":"B43","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1172\/jci44021","article-title":"Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle","volume":"121","author":"Hnia","year":"2011","journal-title":"J. Clin. Investig."},{"key":"B44","doi-asserted-by":"publisher","first-page":"a021642","DOI":"10.1101\/cshperspect.a021642","article-title":"Type III intermediate filaments desmin, glial fibrillary acidic protein (GFAP), vimentin, and peripherin","volume":"9","author":"Hol","year":"2017","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"B45","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1111\/j.1365-2990.2010.01112.x","article-title":"A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene","volume":"37","author":"Hong","year":"2011","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"B46","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1111\/1440-1681.12253","article-title":"\u03b1B-Crystallin R120G variant causes cardiac arrhythmias and alterations in the expression of Ca(2+) -handling proteins and endoplasmic reticulum stress in mice","volume":"41","author":"Jiao","year":"2014","journal-title":"Clin. Exp. Pharmacol. Physiol."},{"key":"B47","doi-asserted-by":"publisher","first-page":"4595","DOI":"10.1093\/hmg\/ddq387","article-title":"De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy","volume":"19","author":"Klauke","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"B48","doi-asserted-by":"publisher","first-page":"E1617","DOI":"10.3390\/cells8121617","article-title":"Imbalance of ER and mitochondria interactions: Prelude to cardiac ageing and disease?","volume":"8","author":"Li","year":"2019","journal-title":"Cells"},{"key":"B49","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1083\/jcb.139.1.129","article-title":"Desmin is essential for the tensile strength and integrity of myofibrils but not for myogenic commitment, differentiation, and fusion of skeletal muscle","volume":"139","author":"Li","year":"1997","journal-title":"J. Cell. Biol."},{"key":"B50","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1111\/joa.13108","article-title":"Expression patterns of intermediate filament proteins desmin and lamin A in the developing conduction system of early human embryonic hearts","volume":"236","author":"Liu","year":"2020","journal-title":"J. Anat."},{"key":"B51","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1111\/1440-1681.12185","article-title":"Nicorandil improves electrical remodelling, leading to the prevention of electrically induced ventricular tachyarrhythmia in a mouse model of desmin-related cardiomyopathy","volume":"41","author":"Matsushita","year":"2014","journal-title":"Clin. Exp. Pharmacol. Physiol."},{"key":"B52","doi-asserted-by":"publisher","first-page":"H557-H570","DOI":"10.1152\/ajpheart.00594.2019","article-title":"Desmin is essential for the structure and function of the sinoatrial node: Implications for increased arrhythmogenesis","volume":"319","author":"Mavroidis","year":"2020","journal-title":"Am. J. Physiol. Heart Circ. Physiol."},{"key":"B53","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1172\/jci19448","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. Investig."},{"key":"B54","doi-asserted-by":"publisher","first-page":"2347","DOI":"10.1091\/mbc.01-12-0576","article-title":"Sarcolemmal organization in skeletal muscle lacking desmin: Evidence for cytokeratins associated with the membrane skeleton at costameres","volume":"13","author":"O'Neill","year":"2002","journal-title":"Mol. Biol. Cell."},{"key":"B55","doi-asserted-by":"publisher","first-page":"723","DOI":"10.5603\/kp.2017.0129","article-title":"Restrictive cardiomyopathy due to novel desmin gene mutation","volume":"75","author":"Ojrzy\u0144ska","year":"2017","journal-title":"Kardiol. Pol."},{"key":"B56","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1016\/j.nmd.2007.02.009","article-title":"Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene","volume":"17","author":"Oliv\u00e9","year":"2007","journal-title":"Neuromuscul. Disord."},{"key":"B57","doi-asserted-by":"publisher","first-page":"1058","DOI":"10.1016\/j.hrthm.2010.04.023","article-title":"Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks","volume":"7","author":"Otten","year":"2010","journal-title":"Heart rhythm."},{"key":"B58","doi-asserted-by":"publisher","first-page":"8463","DOI":"10.3390\/ijms22168463","article-title":"The role of mitochondrial dysfunction in atrial fibrillation: Translation to druggable target and biomarker discovery","volume":"22","author":"Pool","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"B59","doi-asserted-by":"publisher","first-page":"3433","DOI":"10.1074\/jbc.M105273200","article-title":"Association of syncoilin and desmin: Linking intermediate filament proteins to the dystrophin-associated protein complex","volume":"277","author":"Poon","year":"2002","journal-title":"J. Biol. Chem."},{"key":"B60","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1016\/j.cjca.2020.11.017","article-title":"The novel desmin variant p.Leu115Ile is associated with a unique form of biventricular arrhythmogenic cardiomyopathy","volume":"37","author":"Protonotarios","year":"2021","journal-title":"Can. J. Cardiol."},{"key":"B61","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1016\/j.ijcard.2006.05.019","article-title":"Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation","volume":"117","author":"Pruszczyk","year":"2007","journal-title":"Int. J. Cardiol."},{"key":"B62","doi-asserted-by":"publisher","first-page":"1564","DOI":"10.1016\/j.celrep.2015.05.010","article-title":"Developmental alterations in heart biomechanics and skeletal muscle function in desmin mutants suggest an early pathological root for desminopathies","volume":"11","author":"Ramspacher","year":"2015","journal-title":"Cell. Rep."},{"key":"B63","doi-asserted-by":"publisher","first-page":"799","DOI":"10.1586\/14779072.2013.811969","article-title":"Mitochondria and arrhythmias","volume":"11","author":"Rutledge","year":"2013","journal-title":"Expert Rev. cardiovasc. Ther."},{"key":"B64","doi-asserted-by":"publisher","first-page":"e5351","DOI":"10.1371\/journal.pone.0005351","article-title":"Protective effect of geranylgeranylacetone via enhancement of HSPB8 induction in desmin-related cardiomyopathy","volume":"4","author":"Sanbe","year":"2009","journal-title":"PLoS One"},{"key":"B65","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1007\/s10840-010-9482-8","article-title":"Cardiac conduction disturbances and differential effects on atrial and ventricular electrophysiological properties in desmin deficient mice","volume":"28","author":"Schrickel","year":"2010","journal-title":"J. Interv. Card. Electrophysiol."},{"key":"B66","doi-asserted-by":"publisher","first-page":"1825","DOI":"10.1001\/jama.2017.11927","article-title":"Change in testing, awareness of hemoglobin A1c result, and glycemic control in US adults, 2007-2014","volume":"318","author":"Shahraz","year":"2017","journal-title":"Jama"},{"key":"B67","doi-asserted-by":"publisher","first-page":"1207","DOI":"10.1007\/s00109-009-0521-9","article-title":"Disease mutations in the \"head\" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties","volume":"87","author":"Sharma","year":"2009","journal-title":"J. Mol. Med."},{"key":"B68","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1006\/excr.1994.1281","article-title":"Colocalization of nestin and vimentin\/desmin in skeletal muscle cells demonstrated by three-dimensional fluorescence digital imaging microscopy","volume":"214","author":"Sj\u00f6berg","year":"1994","journal-title":"Exp. Cell. Res."},{"key":"B69","doi-asserted-by":"publisher","first-page":"2191","DOI":"10.1093\/hmg\/8.12.2191","article-title":"A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation","volume":"8","author":"Sj\u00f6berg","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"B70","doi-asserted-by":"publisher","first-page":"1699","DOI":"10.1007\/s10554-011-9990-3","article-title":"Characterization of the failing murine heart in a desmin knock-out model using a clinical 3 T MRI scanner","volume":"28","author":"Sprinkart","year":"2012","journal-title":"Int. J. Cardiovasc. Imaging"},{"key":"B71","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1016\/j.nmd.2008.03.012","article-title":"Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies","volume":"18","author":"Strach","year":"2008","journal-title":"Neuromuscul. Disord."},{"key":"B72","doi-asserted-by":"publisher","first-page":"1244","DOI":"10.1161\/circulationaha.106.646778","article-title":"Prevalence of desmin mutations in dilated cardiomyopathy","volume":"115","author":"Taylor","year":"2007","journal-title":"Circulation"},{"key":"B73","doi-asserted-by":"publisher","first-page":"2107","DOI":"10.1006\/jmcc.1997.0446","article-title":"Null mutation in the desmin gene gives rise to a cardiomyopathy","volume":"29","author":"Thornell","year":"1997","journal-title":"J. Mol. Cell. Cardiol."},{"key":"B74","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.1007\/s12551-018-0443-2","article-title":"Intermediate filaments in cardiomyopathy","volume":"10","author":"Tsikitis","year":"2018","journal-title":"Biophys. Rev."},{"key":"B75","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1007\/s12471-011-0233-y","article-title":"Recurrent and founder mutations in The Netherlands: The cardiac phenotype of DES founder mutations p.S13F and p.N342D","volume":"20","author":"van Spaendonck-Zwarts","year":"2012","journal-title":"Neth. Heart J."},{"key":"B76","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1111\/j.1399-0004.2010.01512.x","article-title":"Desmin-related myopathy","volume":"80","author":"van Spaendonck-Zwarts","year":"2011","journal-title":"Clin. Genet."},{"key":"B77","doi-asserted-by":"publisher","first-page":"1574","DOI":"10.1016\/j.hrthm.2009.07.041","article-title":"Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene","volume":"6","author":"van Tintelen","year":"2009","journal-title":"Heart rhythm."},{"key":"B78","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1016\/j.nmd.2011.10.019","article-title":"High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: A 10-year longitudinal study","volume":"22","author":"Wahbi","year":"2012","journal-title":"Neuromuscul. Disord."},{"key":"B79","doi-asserted-by":"publisher","first-page":"2402","DOI":"10.1161\/01.cir.103.19.2402","article-title":"Mouse model of desmin-related cardiomyopathy","volume":"103","author":"Wang","year":"2001","journal-title":"Circulation"},{"key":"B80","doi-asserted-by":"publisher","first-page":"e006458","DOI":"10.1161\/jaha.117.006458","article-title":"Endoplasmic reticulum stress is associated with autophagy and cardiomyocyte remodeling in experimental and human atrial fibrillation","volume":"6","author":"Wiersma","year":"2017","journal-title":"J. Am. Heart Assoc."},{"key":"B81","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1111\/j.1469-7580.2011.01382.x","article-title":"Immunohistochemical distribution of desmin in the human fetal heart","volume":"219","author":"Yamamoto","year":"2011","journal-title":"J. Anat."},{"key":"B82","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1111\/j.1440-1827.2007.02053.x","article-title":"Autopsy case of desminopathy involving skeletal and cardiac muscle","volume":"57","author":"Yuri","year":"2007","journal-title":"Pathol. Int."}],"container-title":["Frontiers in Cell and Developmental Biology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcell.2022.986718\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,9]],"date-time":"2022-09-09T07:04:56Z","timestamp":1662707096000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcell.2022.986718\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,9]]},"references-count":82,"alternative-id":["10.3389\/fcell.2022.986718"],"URL":"https:\/\/doi.org\/10.3389\/fcell.2022.986718","relation":{},"ISSN":["2296-634X"],"issn-type":[{"value":"2296-634X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,9]]},"article-number":"986718"}}