{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:30:58Z","timestamp":1790742658822,"version":"4.1.0"},"reference-count":175,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T00:00:00Z","timestamp":1752710400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000968","name":"American Heart Association","doi-asserted-by":"publisher","award":["AHA24POST1192136"],"award-info":[{"award-number":["AHA24POST1192136"]}],"id":[{"id":"10.13039\/100000968","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Transmembrane protein 43 (TMEM43 or LUMA) encodes a highly conserved protein found in the nuclear and endoplasmic reticulum membranes of many cell types and the intercalated discs and adherens junctions of cardiac myocytes. TMEM43 is involved in facilitating intra\/extracellular signal transduction to the nucleus via the linker of the nucleoskeleton and cytoskeleton complex. Genetic mutations may result in reduced TMEM43 expression and altered TMEM43 protein cellular localization, resulting in impaired cell polarization, intracellular force transmission, and cell\u2013cell connections. The p.S358L mutation causes arrhythmogenic right ventricular cardiomyopathy type-5 and is associated with increased absorption of lipids, fatty acids, and cholesterol in the mouse small intestine, which may promote fibro-fatty replacement of cardiac myocytes. Mutations (p.E85K and p.I91V) have been identified in patients with Emery\u2013Dreifuss Muscular Dystrophy-related myopathies. Other mutations also lead to auditory neuropathy spectrum disorder-associated hearing loss and have a negative association with cancer progression and tumor cell survival. This review explores the pathogenesis of TMEM43 mutation-associated diseases in humans, highlighting animal and in vitro studies that describe the molecular details of disease processes and clinical, histologic, and molecular manifestations. Additionally, we discuss TMEM43 expression-related conditions and how each disease may progress to severe and life-threatening states.<\/jats:p>","DOI":"10.3390\/ijms26146856","type":"journal-article","created":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T11:25:17Z","timestamp":1752751517000},"page":"6856","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Transmembrane Protein 43: Molecular and Pathogenetic Implications in Arrhythmogenic Cardiomyopathy and Various Other Diseases"],"prefix":"10.3390","volume":"26","author":[{"given":"Buyan-Ochir","family":"Orgil","sequence":"first","affiliation":[{"name":"The Heart Institute, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN 38103, USA"},{"name":"Children\u2019s Foundation Research Institute, Le Bonheur Children\u2019s Hospital, Memphis, TN 38105, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mekaea S.","family":"Spaulding","sequence":"additional","affiliation":[{"name":"College of Medicine, University of Tennessee Health Science Center, Memphis, TN 38163, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-3453-4403","authenticated-orcid":false,"given":"Harrison P.","family":"Smith","sequence":"additional","affiliation":[{"name":"College of Medicine, University of Tennessee Health Science Center, Memphis, TN 38163, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zainab","family":"Baba","sequence":"additional","affiliation":[{"name":"Rhodes College, Memphis, TN 38112, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neely R.","family":"Alberson","sequence":"additional","affiliation":[{"name":"The Heart Institute, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN 38103, USA"},{"name":"Children\u2019s Foundation Research Institute, Le Bonheur Children\u2019s Hospital, Memphis, TN 38105, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enkhzul","family":"Batsaikhan","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Addiction Science, and Toxicology, University of Tennessee Health Science Center, Memphis, TN 38163, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4182-2786","authenticated-orcid":false,"given":"Jeffrey A.","family":"Towbin","sequence":"additional","affiliation":[{"name":"The Heart Institute, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN 38103, USA"},{"name":"Children\u2019s Foundation Research Institute, Le Bonheur Children\u2019s Hospital, Memphis, TN 38105, USA"},{"name":"Pediatric Cardiology, St. Jude Children\u2019s Research Hospital, Memphis, TN 38105, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6188-7176","authenticated-orcid":false,"given":"Enkhsaikhan","family":"Purevjav","sequence":"additional","affiliation":[{"name":"The Heart Institute, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN 38103, USA"},{"name":"Children\u2019s Foundation Research Institute, Le Bonheur Children\u2019s Hospital, Memphis, TN 38105, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1242\/jcs.019281","article-title":"LUMA interacts with emerin and influences its distribution at the inner nuclear membrane","volume":"121","author":"Bengtsson","year":"2008","journal-title":"J. Cell Sci."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"11943","DOI":"10.1073\/pnas.211201898","article-title":"Nuclear envelope proteomics: Novel integral membrane proteins of the inner nuclear membrane","volume":"98","author":"Dreger","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"e57306","DOI":"10.7554\/eLife.57306","article-title":"Interaction mapping of endoplasmic reticulum ubiquitin ligases identifies modulators of innate immune signalling","volume":"9","author":"Fenech","year":"2020","journal-title":"eLife"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1007\/s00441-014-1865-1","article-title":"Protein LUMA is a cytoplasmic plaque constituent of various epithelial adherens junctions and composite junctions of myocardial intercalated disks: A unifying finding for cell biology and cardiology","volume":"357","author":"Franke","year":"2014","journal-title":"Cell Tissue Res."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"319","DOI":"10.5607\/en21028","article-title":"A Deafness Associated Protein TMEM43 Interacts with KCNK3 (TASK-1) Two-pore Domain K(+) (K2P) Channel in the Cochlea","volume":"30","author":"Jang","year":"2021","journal-title":"Exp. Neurobiol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1016\/j.ajhg.2008.01.010","article-title":"Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene","volume":"82","author":"Merner","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1111\/j.1399-0004.2011.01623.x","article-title":"Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy","volume":"80","author":"Christensen","year":"2011","journal-title":"Clin. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1002\/ana.22338","article-title":"TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy","volume":"69","author":"Liang","year":"2011","journal-title":"Ann. Neurol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"E5","DOI":"10.1002\/mus.26355","article-title":"Emery-Dreifuss muscular dystrophy-related myopathy with TMEM43 mutations","volume":"59","author":"Mukai","year":"2019","journal-title":"Muscle Nerve"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"e2019681118","DOI":"10.1073\/pnas.2019681118","article-title":"A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder","volume":"118","author":"Jang","year":"2021","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"102758","DOI":"10.1016\/j.scr.2022.102758","article-title":"Characterization of an induced pluripotent stem cell line (UMi040-A) bearing an auditory neuropathy spectrum disorder-associated variant in TMEM43","volume":"61","author":"Tang","year":"2022","journal-title":"Stem Cell Res."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2813","DOI":"10.1038\/onc.2016.430","article-title":"TMEM43\/LUMA is a key signaling component mediating EGFR-induced NF-kappaB activation and tumor progression","volume":"36","author":"Jiang","year":"2017","journal-title":"Oncogene"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"9","DOI":"10.21037\/tgh-23-108","article-title":"TMEM43 promotes the development of hepatocellular carcinoma by activating VDAC1 through USP7 deubiquitination","volume":"9","author":"Zhang","year":"2024","journal-title":"Transl. Gastroenterol. Hepatol."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Li, J., Song, Y., Zhang, C., Wang, R., Hua, L., Guo, Y., Gan, D., Zhu, L., Li, S., and Ma, P. (2022). TMEM43 promotes pancreatic cancer progression by stabilizing PRPF3 and regulating RAP2B\/ERK axis. Cell Mol. Biol. Lett., 27.","DOI":"10.1186\/s11658-022-00321-z"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1093\/cvr\/cvaa300","article-title":"Haplo-insufficiency of Tmem43 in cardiac myocytes activates the DNA damage response pathway leading to a Late-Onset Senescence-Associated pro-fibrotic cardiomyopathy","volume":"117","author":"Rouhi","year":"2020","journal-title":"Cardiovasc. Res."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1177\/15353702231191111","article-title":"Reduced expression of transmembrane protein 43 during cardiac hypertrophy leads to worsening heart failure in mice","volume":"248","author":"Gu","year":"2023","journal-title":"Exp. Biol. Med."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Chen, Z., Cao, Z., Gui, F., Zhang, M., Wu, X., Peng, H., Yu, B., Li, W., Ai, F., and Zhang, J. (2022). TMEM43 Protects against Sepsis-Induced Cardiac Injury via Inhibiting Ferroptosis in Mice. Cells, 11.","DOI":"10.3390\/cells11192992"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2347","DOI":"10.1253\/circj.CJ-14-0893","article-title":"Inherited cardiomyopathies","volume":"78","author":"Towbin","year":"2014","journal-title":"Circ. J."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/j.tcb.2023.09.003","article-title":"Tetraspanins: Structure, dynamics, and principles of partner-protein recognition","volume":"34","author":"Susa","year":"2024","journal-title":"Trends Cell Biol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1007\/s00018-022-04458-0","article-title":"A Drosophila melanogaster model for TMEM43-related arrhythmogenic right ventricular cardiomyopathy type 5","volume":"79","author":"Klinke","year":"2022","journal-title":"Cell. Mol. Life Sci."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"e21994","DOI":"10.1096\/fj.202100800R","article-title":"Aberrant accumulation of TMEM43 accompanied by perturbed transmural gene expression in arrhythmogenic cardiomyopathy","volume":"35","author":"Shinomiya","year":"2021","journal-title":"FASEB J."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","article-title":"Highly accurate protein structure prediction with AlphaFold","volume":"596","author":"Jumper","year":"2021","journal-title":"Nature"},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Pawar, S., and Kutay, U. (2021). The Diverse Cellular Functions of Inner Nuclear Membrane Proteins. Cold Spring Harb. Perspect. Biol., 13.","DOI":"10.1101\/cshperspect.a040477"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1126\/science.1088176","article-title":"Nuclear membrane proteins with potential disease links found by subtractive proteomics","volume":"301","author":"Schirmer","year":"2003","journal-title":"Science"},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Gunn, A.L., Yashchenko, A.I., Dubrulle, J., Johnson, J., and Hatch, E.M. (2024). A high-content screen reveals new regulators of nuclear membrane stability. Sci. Rep., 14.","DOI":"10.1038\/s41598-024-56613-1"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"5021","DOI":"10.1242\/jcs.03295","article-title":"KASH-domain proteins in nuclear migration, anchorage and other processes","volume":"119","author":"Wilhelmsen","year":"2006","journal-title":"J. Cell Sci."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"40","DOI":"10.4161\/nucl.1.1.10530","article-title":"LINC complexes in health and disease","volume":"1","author":"Mejat","year":"2010","journal-title":"Nucleus"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.ceb.2010.11.006","article-title":"Nesprins LINC the nucleus and cytoskeleton","volume":"23","author":"Mellad","year":"2011","journal-title":"Curr. Opin. Cell Biol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1729","DOI":"10.1042\/BST20110686","article-title":"Keeping the LINC: The importance of nucleocytoskeletal coupling in intracellular force transmission and cellular function","volume":"39","author":"Lombardi","year":"2011","journal-title":"Biochem. Soc. Trans."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1016\/j.cell.2013.02.015","article-title":"When lamins go bad: Nuclear structure and disease","volume":"152","author":"Schreiber","year":"2013","journal-title":"Cell"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1161\/CIRCRESAHA.114.301236","article-title":"Linker of nucleoskeleton and cytoskeleton complex proteins in cardiac structure, function, and disease","volume":"114","author":"Stroud","year":"2014","journal-title":"Circ. Res."},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Shimojima, M., Yuasa, S., Motoda, C., Yozu, G., Nagai, T., Ito, S., Lachmann, M., Kashimura, S., Takei, M., and Kusumoto, D. (2017). Emerin plays a crucial role in nuclear invagination and in the nuclear calcium transient. Sci. Rep., 7.","DOI":"10.1038\/srep44312"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1007\/s00018-009-0219-8","article-title":"Identification of an emerin-beta-catenin complex in the heart important for intercalated disc architecture and beta-catenin localisation","volume":"67","author":"Wheeler","year":"2010","journal-title":"Cell. Mol. Life Sci."},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"Siragam, V., Cui, X., Masse, S., Ackerley, C., Aafaqi, S., Strandberg, L., Tropak, M., Fridman, M.D., Nanthakumar, K., and Liu, J. (2014). TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0109128"},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Rajkumar, R., Sembrat, J.C., McDonough, B., Seidman, C.E., and Ahmad, F. (2012). Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy. BMC Med. Genet., 13.","DOI":"10.1186\/1471-2350-13-21"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1583","DOI":"10.1194\/jlr.M500504-JLR200","article-title":"Genome-wide identification of peroxisome proliferator response elements using integrated computational genomics","volume":"47","author":"Lemay","year":"2006","journal-title":"J. Lipid Res."},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Zink, M., Seewald, A., Rohrbach, M., Brodehl, A., Liedtke, D., Williams, T., Childs, S.J., and Gerull, B. (2022). Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23179530"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"897","DOI":"10.2217\/epi-2022-0061","article-title":"The placenta epigenome-brain axis: Placental epigenomic and transcriptomic responses that preprogram cognitive impairment","volume":"14","author":"Freedman","year":"2022","journal-title":"Epigenomics"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"2975","DOI":"10.1161\/01.CIR.0000071380.43086.29","article-title":"Arrhythmogenic right ventricular dysplasia\/cardiomyopathy (ARVD\/C): A multidisciplinary study: Design and protocol","volume":"107","author":"Marcus","year":"2003","journal-title":"Circulation"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"e002149","DOI":"10.1161\/JAHA.115.002149","article-title":"Arrhythmogenic Phenotype in Dilated Cardiomyopathy: Natural History and Predictors of Life-Threatening Arrhythmias","volume":"4","author":"Spezzacatene","year":"2015","journal-title":"J. Am. Heart Assoc."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.ijcard.2003.10.037","article-title":"Prevalence of right ventricular dysplasia-cardiomyopathy in a non-referral hospital","volume":"97","author":"Peters","year":"2004","journal-title":"Int. J. Cardiol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1161\/CIRCGENETICS.114.001003","article-title":"Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia\/Cardiomyopathy Patients and Family Members","volume":"8","author":"Groeneweg","year":"2015","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/0002-8703(61)90513-0","article-title":"\u201cAuricularization\u201d of right ventricular pressure curve","volume":"61","author":"Battaglia","year":"1961","journal-title":"Am. Heart J."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1161\/01.CIR.65.2.384","article-title":"Right ventricular dysplasia: A report of 24 adult cases","volume":"65","author":"Marcus","year":"1982","journal-title":"Circulation"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1807","DOI":"10.1161\/CIRCULATIONAHA.106.174287","article-title":"Prevention, Contemporary definitions and classification of the cardiomyopathies: An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention","volume":"113","author":"Maron","year":"2006","journal-title":"Circulation"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1710","DOI":"10.1161\/CIRCULATIONAHA.106.660241","article-title":"Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia\/cardiomyopathy provides novel insights into patterns of disease expression","volume":"115","author":"Syrris","year":"2007","journal-title":"Circulation"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1016\/S0300-8932(10)70208-6","article-title":"Arrhythmia and right heart disease: From genetic basis to clinical practice","volume":"63","author":"Capulzini","year":"2010","journal-title":"Rev. Esp. Cardiol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"e301","DOI":"10.1016\/j.hrthm.2019.05.007","article-title":"2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy","volume":"16","author":"Towbin","year":"2019","journal-title":"Heart Rhythm"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1016\/j.hrthm.2009.03.013","article-title":"Arrhythmogenic right ventricular cardiomyopathy\/dysplasia clinical presentation and diagnostic evaluation: Results from the North American Multidisciplinary Study","volume":"6","author":"Marcus","year":"2009","journal-title":"Heart Rhythm"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1056\/NEJM198801213180301","article-title":"Right ventricular cardiomyopathy and sudden death in young people","volume":"318","author":"Thiene","year":"1988","journal-title":"N. Engl. J. Med."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1161\/CIRCULATIONAHA.108.840827","article-title":"Diagnosis of arrhythmogenic right ventricular cardiomyopathy\/dysplasia: Proposed modification of the task force criteria","volume":"121","author":"Marcus","year":"2010","journal-title":"Circulation"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1016\/j.hrthm.2020.01.035","article-title":"Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5","volume":"17","author":"Dominguez","year":"2020","journal-title":"Heart Rhythm"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1177\/1741826710389924","article-title":"Strategies for the prevention of sudden cardiac death during sports","volume":"18","author":"Corrado","year":"2011","journal-title":"Eur. J. Prev. Cardiol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"2807","DOI":"10.1161\/01.CIR.0000128363.85581.E1","article-title":"Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases","volume":"109","author":"Maron","year":"2004","journal-title":"Circulation"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1290","DOI":"10.1016\/j.jacc.2013.06.033","article-title":"Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia\/cardiomyopathy-associated desmosomal mutation carriers","volume":"62","author":"James","year":"2013","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_56","doi-asserted-by":"crossref","unstructured":"Te Riele, A., James, C.A., Calkins, H., and Tsatsopoulou, A. (2021). Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity. Front. Pediatr., 9.","DOI":"10.3389\/fped.2021.750916"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1093\/europace\/euab077","article-title":"Sex differences in disease progression and arrhythmic risk in patients with arrhythmogenic cardiomyopathy","volume":"23","author":"Lie","year":"2021","journal-title":"Europace"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1498","DOI":"10.1093\/eurheartj\/ehx011","article-title":"Sex hormones affect outcome in arrhythmogenic right ventricular cardiomyopathy\/dysplasia: From a stem cell derived cardiomyocyte-based model to clinical biomarkers of disease outcome","volume":"38","author":"Akdis","year":"2017","journal-title":"Eur. Heart J."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1111\/j.1540-8167.2005.40842.x","article-title":"Genetics of right ventricular cardiomyopathy","volume":"16","author":"Syrris","year":"2005","journal-title":"J. Cardiovasc. Electrophysiol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"26","DOI":"10.15420\/aer.2020.39","article-title":"Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy","volume":"10","author":"Wallace","year":"2021","journal-title":"Arrhythmia Electrophysiol. Rev."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"1416","DOI":"10.1016\/j.jacc.2006.06.045","article-title":"Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia\/cardiomyopathy","volume":"48","author":"Dalal","year":"2006","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_62","doi-asserted-by":"crossref","unstructured":"Vasireddi, S.K., Sattayaprasert, P., Yang, D., Dennis, A.T., Bektik, E., Fu, J.D., Mackall, J.A., and Laurita, K.R. (2022). Adipogenic Signaling Promotes Arrhythmia Substrates before Structural Abnormalities in TMEM43 ARVC. J. Pers. Med., 12.","DOI":"10.3390\/jpm12101680"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1016\/j.hfc.2023.03.006","article-title":"Arrhythmogenic Cardiomyopathy: Evolving Diagnostic Criteria and Insight from Cardiac Magnetic Resonance Imaging","volume":"19","author":"Basharat","year":"2023","journal-title":"Heart Fail. Clin."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"e021987","DOI":"10.1161\/JAHA.121.021987","article-title":"Evolving Diagnostic Criteria for Arrhythmogenic Cardiomyopathy","volume":"10","author":"Corrado","year":"2021","journal-title":"J. Am. Heart Assoc."},{"key":"ref_65","first-page":"128","article-title":"Left sided arrhythmogenic ventricular dysplasia in siblings","volume":"86","author":"Heddle","year":"2001","journal-title":"Heart"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"e244","DOI":"10.2459\/JCM.0000000000000242","article-title":"Arrhythmogenic cardiomyopathy with biventricular involvement and noncompaction","volume":"17","author":"Ruperto","year":"2016","journal-title":"J. Cardiovasc. Med."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1159\/000007026","article-title":"Evolution of left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy","volume":"93","author":"Horimoto","year":"2000","journal-title":"Cardiology"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.ijcard.2020.06.005","article-title":"Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria","volume":"319","author":"Corrado","year":"2020","journal-title":"Int. J. Cardiol."},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Graziano, F., Zorzi, A., Cipriani, A., De Lazzari, M., Bauce, B., Rigato, I., Brunetti, G., Pilichou, K., Basso, C., and Perazzolo Marra, M. (2022). The 2020 \u201cPadua Criteria\u201d for Diagnosis and Phenotype Characterization of Arrhythmogenic Cardiomyopathy in Clinical Practice. J. Clin. Med., 11.","DOI":"10.3390\/jcm11010279"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"131447","DOI":"10.1016\/j.ijcard.2023.131447","article-title":"Proposed diagnostic criteria for arrhythmogenic cardiomyopathy: European Task Force consensus report","volume":"395","author":"Corrado","year":"2024","journal-title":"Int. J. Cardiol."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1093\/eurheartj\/ehu509","article-title":"Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia\/cardiomyopathy-associated mutation carriers","volume":"36","author":"Bhonsale","year":"2015","journal-title":"Eur. Heart J."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.jacc.2023.05.005","article-title":"Individualized Family Screening for Arrhythmogenic Right Ventricular Cardiomyopathy","volume":"82","author":"Muller","year":"2023","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1161\/CIRCULATIONAHA.104.532234","article-title":"Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy","volume":"112","author":"Norman","year":"2005","journal-title":"Circulation"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1093\/eurheartj\/ehl530","article-title":"Arrhythmogenic right ventricular cardiomyopathy: A \u2018final common pathway\u2019 that defines clinical phenotype","volume":"28","author":"Vatta","year":"2007","journal-title":"Eur. Heart J."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/j.jacc.2009.11.020","article-title":"Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy","volume":"55","author":"Xu","year":"2010","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"1945","DOI":"10.1016\/j.jacc.2013.01.073","article-title":"Genetics of arrhythmogenic right ventricular cardiomyopathy: A practical guide for physicians","volume":"61","author":"Marcus","year":"2013","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.cardfail.2009.01.006","article-title":"Genetic evaluation of cardiomyopathy\u2014A Heart Failure Society of America practice guideline","volume":"15","author":"Hershberger","year":"2009","journal-title":"J. Card. Fail."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1038\/ng1461","article-title":"Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy","volume":"36","author":"Gerull","year":"2004","journal-title":"Nat. Genet."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1086\/521633","article-title":"A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy","volume":"81","author":"Asimaki","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"2440","DOI":"10.1016\/j.jacc.2016.09.927","article-title":"Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies","volume":"68","author":"Cuenca","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1161\/CIRCULATIONAHA.110.005405","article-title":"Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes","volume":"124","author":"Taylor","year":"2011","journal-title":"Circulation"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1038\/nrcardio.2017.103","article-title":"Unmasking the molecular link between arrhythmogenic cardiomyopathy and Brugada syndrome","volume":"14","author":"Brugada","year":"2017","journal-title":"Nat. Rev. Cardiol."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1161\/CIRCHEARTFAILURE.108.817346","article-title":"Progress with genetic cardiomyopathies: Screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia\/cardiomyopathy","volume":"2","author":"Hershberger","year":"2009","journal-title":"Circ. Heart Fail."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1016\/S0140-6736(09)60256-7","article-title":"Arrhythmogenic right ventricular cardiomyopathy","volume":"373","author":"Basso","year":"2009","journal-title":"Lancet"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1161\/CIRCGENETICS.113.000288","article-title":"Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy","volume":"6","author":"Rigato","year":"2013","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"1759","DOI":"10.1016\/j.csbj.2023.02.029","article-title":"Modeling incomplete penetrance in arrhythmogenic cardiomyopathy by human induced pluripotent stem cell derived cardiomyocytes","volume":"21","author":"Meraviglia","year":"2023","journal-title":"Comput. Struct. Biotechnol. J."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"e002800","DOI":"10.1161\/CIRCGEN.119.002800","article-title":"Early Lethality Due to a Novel Desmoplakin Variant Causing Infantile Epidermolysis Bullosa Simplex With Fragile Skin, Aplasia Cutis Congenita, and Arrhythmogenic Cardiomyopathy","volume":"13","author":"Camors","year":"2020","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1083\/jcb.201101100","article-title":"The cell biology of disease: Cellular mechanisms of cardiomyopathy","volume":"194","author":"Harvey","year":"2011","journal-title":"J. Cell Biol."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"90","DOI":"10.15420\/AER.2016.4.3","article-title":"Arrhythmogenic Cardiomyopathy: Electrical and Structural Phenotypes","volume":"5","author":"Akdis","year":"2016","journal-title":"Arrhythmia Electrophysiol. Rev."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"3000","DOI":"10.1161\/01.CIR.0000108396.65446.21","article-title":"Circumstances of death and gross and microscopic observations in a series of 200 cases of sudden death associated with arrhythmogenic right ventricular cardiomyopathy and\/or dysplasia","volume":"108","author":"Tabib","year":"2003","journal-title":"Circulation"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1002\/humu.22765","article-title":"The ARVD\/C genetic variants database: 2014 update","volume":"36","author":"Lazzarini","year":"2015","journal-title":"Hum. Mutat."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1016\/j.cjca.2015.04.012","article-title":"Pathogenesis of Arrhythmogenic Cardiomyopathy","volume":"31","author":"Asimaki","year":"2015","journal-title":"Can. J. Cardiol."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1016\/j.jacc.2008.09.019","article-title":"Left-dominant arrhythmogenic cardiomyopathy: An under-recognized clinical entity","volume":"52","author":"Syrris","year":"2008","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"2012","DOI":"10.1172\/JCI27751","article-title":"Suppression of canonical Wnt\/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy","volume":"116","author":"Lombardi","year":"2006","journal-title":"J. Clin. Investig."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1093\/cvr\/cvp183","article-title":"A potential link between peroxisome proliferator-activated receptor signalling and the pathogenesis of arrhythmogenic right ventricular cardiomyopathy","volume":"84","author":"Djouadi","year":"2009","journal-title":"Cardiovasc. Res."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1161\/CIRCRESAHA.114.302810","article-title":"The hippo pathway is activated and is a causal mechanism for adipogenesis in arrhythmogenic cardiomyopathy","volume":"114","author":"Chen","year":"2014","journal-title":"Circ. Res."},{"key":"ref_97","doi-asserted-by":"crossref","unstructured":"Delva, E., Tucker, D.K., and Kowalczyk, A.P. (2009). The desmosome. Cold Spring Harb. Perspect. Biol., 1.","DOI":"10.1101\/cshperspect.a002543"},{"key":"ref_98","doi-asserted-by":"crossref","unstructured":"Hatzfeld, M., Keil, R., and Magin, T.M. (2017). Desmosomes and Intermediate Filaments: Their Consequences for Tissue Mechanics. Cold Spring Harb. Perspect. Biol., 9.","DOI":"10.1101\/cshperspect.a029157"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1007\/s000590050003","article-title":"The \u201cfinal common pathway\u201d hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy","volume":"25","author":"Bowles","year":"2000","journal-title":"Herz"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"H174","DOI":"10.1152\/ajpheart.00295.2015","article-title":"Accelerated cardiac remodeling in desmoplakin transgenic mice in response to endurance exercise is associated with perturbed Wnt\/beta-catenin signaling","volume":"310","author":"Martherus","year":"2016","journal-title":"Am. J. Physiol. Heart Circ. Physiol."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1111\/j.1399-0004.2012.01919.x","article-title":"The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43","volume":"83","author":"Hodgkinson","year":"2013","journal-title":"Clin. Genet."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"e003589","DOI":"10.1161\/CIRCEP.115.003589","article-title":"Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in TMEM43 Following Implantable Cardioverter Defibrillator Therapy","volume":"9","author":"Hodgkinson","year":"2016","journal-title":"Circ. Arrhythmia Electrophysiol."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1038\/nature11799","article-title":"Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs","volume":"494","author":"Kim","year":"2013","journal-title":"Nature"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1007\/s00439-013-1323-2","article-title":"TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations","volume":"132","author":"Baskin","year":"2013","journal-title":"Hum. Genet."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1093\/eurheartj\/ehs383","article-title":"Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada","volume":"34","author":"Haywood","year":"2013","journal-title":"Eur. Heart J."},{"key":"ref_106","first-page":"217","article-title":"Failure of ICD therapy in lethal arrhythmogenic right ventricular cardiomyopathy type 5 caused by the TMEM43 p.Ser358Leu mutation","volume":"2","author":"Kristensen","year":"2016","journal-title":"Hear. Case Rep."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1016\/j.hrthm.2020.02.028","article-title":"Exercise and arrhythmic risk in TMEM43 p.S358L arrhythmogenic right ventricular cardiomyopathy","volume":"17","author":"Paulin","year":"2020","journal-title":"Heart Rhythm"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1093\/eurheartj\/ehu077","article-title":"The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus","volume":"36","author":"Milting","year":"2015","journal-title":"Eur. Heart J."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"H866","DOI":"10.1152\/ajpheart.00712.2022","article-title":"The TMEM43 S358L mutation affects cardiac, small intestine, and metabolic homeostasis in a knock-in mouse model","volume":"324","author":"Orgil","year":"2023","journal-title":"Am. J. Physiol. Heart Circ. Physiol."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1007\/s13238-018-0563-2","article-title":"TMEM43-S358L mutation enhances NF-kappaB-TGFbeta signal cascade in arrhythmogenic right ventricular dysplasia\/cardiomyopathy","volume":"10","author":"Zheng","year":"2018","journal-title":"Protein Cell"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1161\/CIRCULATIONAHA.119.040366","article-title":"Severe Cardiac Dysfunction and Death Caused by Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Are Improved by Inhibition of Glycogen Synthase Kinase-3beta","volume":"140","author":"Dominguez","year":"2019","journal-title":"Circulation"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1111\/ped.12832","article-title":"Fetal arrhythmogenic right ventricular cardiomyopathy with double mutations in TMEM43","volume":"58","author":"Honda","year":"2016","journal-title":"Pediatr. Int."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"e230155","DOI":"10.1148\/ryct.230155","article-title":"Cardiac MRI and Clinical Outcomes in TMEM43 Arrhythmogenic Cardiomyopathy","volume":"5","author":"Matos","year":"2023","journal-title":"Radiol. Cardiothorac. Imaging"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/j.ccep.2017.08.004","article-title":"Ventricular Arrhythmias and Sudden Cardiac Death","volume":"9","author":"Tang","year":"2017","journal-title":"Card. Electrophysiol. Clin."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1056\/NEJMra000650","article-title":"Sudden death due to cardiac arrhythmias","volume":"345","author":"Huikuri","year":"2001","journal-title":"N. Engl. J. Med."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1007\/s10654-017-0353-9","article-title":"Body mass index, abdominal fatness, and the risk of sudden cardiac death: A systematic review and dose-response meta-analysis of prospective studies","volume":"33","author":"Aune","year":"2018","journal-title":"Eur. J. Epidemiol."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1365-2559.2005.02054.x","article-title":"Fat in the right ventricle of the normal heart","volume":"46","author":"Tansey","year":"2005","journal-title":"Histopathology"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"1699","DOI":"10.1016\/j.hrthm.2023.08.033","article-title":"Association of epicardial and intramyocardial fat with ventricular arrhythmias","volume":"20","author":"Sani","year":"2023","journal-title":"Heart Rhythm"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.hrthm.2023.11.008","article-title":"Epicardial fat and ventricular arrhythmias","volume":"21","author":"Wojdynska","year":"2024","journal-title":"Heart Rhythm"},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"100414","DOI":"10.1016\/j.jacadv.2023.100414","article-title":"Obesity Cardiomyopathy in Sudden Cardiac Death: A Distinct Entity? A Comparative Study","volume":"2","author":"Westaby","year":"2023","journal-title":"JACC Adv."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"5163","DOI":"10.1210\/jc.2003-030698","article-title":"Echocardiographic epicardial adipose tissue is related to anthropometric and clinical parameters of metabolic syndrome: A new indicator of cardiovascular risk","volume":"88","author":"Iacobellis","year":"2003","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1242\/dmm.029363","article-title":"Cell models of arrhythmogenic cardiomyopathy: Advances and opportunities","volume":"10","author":"Sommariva","year":"2017","journal-title":"Dis. Models Mech."},{"key":"ref_123","doi-asserted-by":"crossref","unstructured":"Bueno-Beti, C., and Asimaki, A. (2021). Histopathological Features and Protein Markers of Arrhythmogenic Cardiomyopathy. Front. Cardiovasc. Med., 8.","DOI":"10.3389\/fcvm.2021.746321"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"1571","DOI":"10.1161\/01.CIR.97.16.1571","article-title":"Arrhythmogenic right ventricular cardiomyopathy and fatty replacement of the right ventricular myocardium: Are they different diseases?","volume":"97","author":"Burke","year":"1998","journal-title":"Circulation"},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.cardiores.2004.12.009","article-title":"Oxidized LDL induces ventricular myocyte damage and abnormal electrical activity\u2014Role of lipid hydroperoxides","volume":"66","author":"Schaffer","year":"2005","journal-title":"Cardiovasc. Res."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"e14365","DOI":"10.15252\/emmm.202114365","article-title":"Oxidized LDL-dependent pathway as new pathogenic trigger in arrhythmogenic cardiomyopathy","volume":"13","author":"Sommariva","year":"2021","journal-title":"EMBO Mol. Med."},{"key":"ref_127","doi-asserted-by":"crossref","unstructured":"Barriga, M., Cal, R., Cabello, N., Llach, A., Vallmitjana, A., Benitez, R., Badimon, L., Cinca, J., Llorente-Cortes, V., and Hove-Madsen, L. (2013). Low density lipoproteins promote unstable calcium handling accompanied by reduced SERCA2 and connexin-40 expression in cardiomyocytes. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0058128"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/0022-2828(91)90019-I","article-title":"Amphipathic lipid metabolites and their relation to arrhythmogenesis in the ischemic heart","volume":"23","author":"DaTorre","year":"1991","journal-title":"J. Mol. Cell. Cardiol."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1161\/CIRCRESAHA.109.196899","article-title":"Genetic fate mapping identifies second heart field progenitor cells as a source of adipocytes in arrhythmogenic right ventricular cardiomyopathy","volume":"104","author":"Lombardi","year":"2009","journal-title":"Circ. Res."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.cpcardiol.2011.11.004","article-title":"An update on exercise stress testing","volume":"37","author":"Sharma","year":"2012","journal-title":"Curr. Probl. Cardiol."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"3823","DOI":"10.1161\/CIRCULATIONAHA.105.542266","article-title":"Arrhythmogenic right ventricular dysplasia: A United States experience","volume":"112","author":"Dalal","year":"2005","journal-title":"Circulation"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1016\/j.jacc.2005.02.011","article-title":"Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome","volume":"45","author":"Maron","year":"2005","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_133","doi-asserted-by":"crossref","unstructured":"Fabritz, L., Fortmueller, L., Gehmlich, K., Kant, S., Kemper, M., Kucerova, D., Syeda, F., Faber, C., Leube, R.E., and Kirchhof, P. (2024). Endurance Training Provokes Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Heterozygous Desmoglein-2 Mutants: Alleviation by Preload Reduction. Biomedicines, 12.","DOI":"10.3390\/biomedicines12050985"},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"1799","DOI":"10.1161\/CIRCULATIONAHA.106.624502","article-title":"Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice","volume":"114","author":"Kirchhof","year":"2006","journal-title":"Circulation"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"228","DOI":"10.2459\/01.JCM.0000219313.89633.45","article-title":"Does sports activity enhance the risk of sudden cardiac death?","volume":"7","author":"Corrado","year":"2006","journal-title":"J. Cardiovasc. Med."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"2049","DOI":"10.1056\/NEJMclde1311642","article-title":"Clinical decisions. Cardiac screening before participation in sports","volume":"369","author":"Sharma","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1002\/ejhf.181","article-title":"Vigorous physical activity impairs myocardial function in patients with arrhythmogenic right ventricular cardiomyopathy and in mutation positive family members","volume":"16","author":"Saberniak","year":"2014","journal-title":"Eur. J. Heart Fail."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"1708","DOI":"10.1093\/eurheartj\/ehv183","article-title":"Arrhythmogenic right ventricular cardiomyopathy and sports activity","volume":"36","author":"Corrado","year":"2015","journal-title":"Eur. Heart J."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"2258","DOI":"10.1093\/eurheartj\/ehad288","article-title":"Pre-participation screening for safe sports activity","volume":"44","author":"Corrado","year":"2023","journal-title":"Eur. Heart J."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1093\/eurheartj\/ehv110","article-title":"Association of competitive and recreational sport participation with cardiac events in patients with arrhythmogenic right ventricular cardiomyopathy: Results from the North American multidisciplinary study of arrhythmogenic right ventricular cardiomyopathy","volume":"36","author":"Ruwald","year":"2015","journal-title":"Eur. Heart J."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"1959","DOI":"10.1016\/j.jacc.2003.03.002","article-title":"Does sports activity enhance the risk of sudden death in adolescents and young adults?","volume":"42","author":"Corrado","year":"2003","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1111\/jce.13353","article-title":"Ventricular tachycardia ablation in arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations","volume":"29","author":"AbdelWahab","year":"2018","journal-title":"J. Cardiovasc. Electrophysiol."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.cell.2005.08.004","article-title":"The homeodomain transcription factor Irx5 establishes the mouse cardiac ventricular repolarization gradient","volume":"123","author":"Costantini","year":"2005","journal-title":"Cell"},{"key":"ref_144","first-page":"1","article-title":"Cardiac disease and arrhythmogenesis: Mechanistic insights from mouse models","volume":"12","author":"Choy","year":"2016","journal-title":"Int. J. Cardiol. Heart Vasc."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1093\/cvr\/cvx205","article-title":"Luma is not essential for murine cardiac development and function","volume":"114","author":"Stroud","year":"2018","journal-title":"Cardiovasc. Res."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1007\/s11418-016-0988-y","article-title":"Catalpol reduces the production of inflammatory mediators via PPAR-gamma activation in human intestinal Caco-2 cells","volume":"70","author":"Park","year":"2016","journal-title":"J. Nat. Med."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1152\/physiolgenomics.00066.2021","article-title":"Systems Genetics Analysis Defines Importance Of TMEM43\/LUMA For Cardiac And Metabolic Related Pathways","volume":"54","author":"Gu","year":"2021","journal-title":"Physiol. Genom."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.cels.2020.12.002","article-title":"A platform for experimental precision medicine: The extended BXD mouse family","volume":"12","author":"Ashbrook","year":"2021","journal-title":"Cell Syst."},{"key":"ref_149","first-page":"134","article-title":"Nonalcoholic Fatty Liver Disease (NAFLD) and Risk of Cardiac Arrhythmias: A New Aspect of the Liver-heart Axis","volume":"5","author":"Mantovani","year":"2017","journal-title":"J. Clin. Transl. Hepatol."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1002\/hep.28890","article-title":"Bile acid excess induces cardiomyopathy and metabolic dysfunctions in the heart","volume":"65","author":"Desai","year":"2017","journal-title":"Hepatology"},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"1420","DOI":"10.1111\/liv.13394","article-title":"Bile acids and cardiovascular function in cirrhosis","volume":"37","author":"Voiosu","year":"2017","journal-title":"Liver Int."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"103453","DOI":"10.1016\/j.scr.2024.103453","article-title":"Generation of an induced pluripotent stem cell line from a patient with arrhythmogenic right ventricular cardiomyopathy harboring a TMEM43 splice-site variant","volume":"78","author":"Lee","year":"2024","journal-title":"Stem Cell Res."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1161\/CIRCRESAHA.124.325848","article-title":"Overexpression of Wild-Type TMEM43 Improves Cardiac Function in Arrhythmogenic Right Ventricular Cardiomyopathy Type 5","volume":"136","author":"Lalaguna","year":"2025","journal-title":"Circ. Res."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/s40259-017-0234-5","article-title":"Adeno-Associated Virus (AAV) as a Vector for Gene Therapy","volume":"31","author":"Naso","year":"2017","journal-title":"BioDrugs"},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.cca.2020.03.021","article-title":"A novel SYNE2 mutation identified by whole exome sequencing in a Korean family with Emery-Dreifuss muscular dystrophy","volume":"506","author":"Lee","year":"2020","journal-title":"Clin. Chim. Acta"},{"key":"ref_156","doi-asserted-by":"crossref","unstructured":"Xiong, H. (2020). Novel candidate alleles associated with gene regulation for Emery-Dreifuss muscular dystrophy. eBioMedicine, 52.","DOI":"10.1016\/j.ebiom.2019.102620"},{"key":"ref_157","doi-asserted-by":"crossref","unstructured":"Schmit, K., and Michiels, C. (2018). TMEM Proteins in Cancer: A Review. Front. Pharmacol., 9.","DOI":"10.3389\/fphar.2018.01345"},{"key":"ref_158","doi-asserted-by":"crossref","unstructured":"Zhang, Y., Zhang, W., Yuan, Q., Hong, W., Yin, P., Shen, T., Fang, L., Jiang, J., Shi, F., and Chen, W. (2023). Illustrating the biological functions and diagnostic value of transmembrane protein family members in glioma. Front. Oncol., 13.","DOI":"10.3389\/fonc.2023.1145676"},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1038\/s44161-023-00215-z","article-title":"Tmem88 confines ectodermal Wnt2bb signaling in pharyngeal arch artery progenitors for balancing cell cycle progression and cell fate decision","volume":"2","author":"Zhang","year":"2023","journal-title":"Nat. Cardiovasc. Res."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"4527","DOI":"10.1158\/0008-5472.CAN-14-3828","article-title":"Cytosolic TMEM88 promotes invasion and metastasis in lung cancer cells by binding DVLS","volume":"75","author":"Zhang","year":"2015","journal-title":"Cancer Res."},{"key":"ref_161","doi-asserted-by":"crossref","unstructured":"Zhang, X., Wan, J.X., Ke, Z.P., Wang, F., Chai, H.X., and Liu, J.Q. (2017). TMEM88, CCL14 and CLEC3B as prognostic biomarkers for prognosis and palindromia of human hepatocellular carcinoma. Tumour Biol., 39.","DOI":"10.1177\/1010428317708900"},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"2575","DOI":"10.1007\/s13277-015-4014-x","article-title":"Overexpression and biological function of TMEM48 in non-small cell lung carcinoma","volume":"37","author":"Qiao","year":"2016","journal-title":"Tumour Biol."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"8231","DOI":"10.1007\/s13277-015-3552-6","article-title":"RNA interference against TMEM97 inhibits cell proliferation, migration, and invasion in glioma cells","volume":"36","author":"Qiu","year":"2015","journal-title":"Tumour Biol."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1155\/2013\/427890","article-title":"TMEM25 is a candidate biomarker methylated and down-regulated in colorectal cancer","volume":"34","author":"Hrasovec","year":"2013","journal-title":"Dis. Markers"},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/j.acthis.2011.12.006","article-title":"Abnormal accumulation of human transmembrane (TMEM)-176A and 176B proteins is associated with cancer pathology","volume":"114","author":"Cuajungco","year":"2012","journal-title":"Acta Histochem."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.cancergencyto.2007.04.007","article-title":"The interferon-alpha responsive gene TMEM7 suppresses cell proliferation and is downregulated in human hepatocellular carcinoma","volume":"177","author":"Zhou","year":"2007","journal-title":"Cancer Genet. Cytogenet."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"8723","DOI":"10.1002\/jcb.28159","article-title":"A three microRNA-based prognostic signature for small cell lung cancer overall survival","volume":"120","author":"Yan","year":"2019","journal-title":"J. Cell. Biochem."},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"e00100","DOI":"10.14309\/ctg.0000000000000100","article-title":"Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing","volume":"10","author":"Toma","year":"2019","journal-title":"Clin. Transl. Gastroenterol."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"176225","DOI":"10.1016\/j.ejphar.2023.176225","article-title":"Lifting the veils on transmembrane proteins: Potential anticancer targets","volume":"963","author":"Lei","year":"2024","journal-title":"Eur. J. Pharmacol."},{"key":"ref_170","doi-asserted-by":"crossref","unstructured":"De Siati, R.D., Rosenzweig, F., Gersdorff, G., Gregoire, A., Rombaux, P., and Deggouj, N. (2020). Auditory Neuropathy Spectrum Disorders: From Diagnosis to Treatment: Literature Review and Case Reports. J. Clin. Med., 9.","DOI":"10.3390\/jcm9041074"},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1038\/s12276-024-01206-1","article-title":"Transmembrane proteins with unknown function (TMEMs) as ion channels: Electrophysiological properties, structure, and pathophysiological roles","volume":"56","author":"Kang","year":"2024","journal-title":"Exp. Mol. Med."},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.semcdb.2013.03.009","article-title":"Inner ear supporting cells: Rethinking the silent majority","volume":"24","author":"Wan","year":"2013","journal-title":"Semin. Cell Dev. Biol."},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1113\/JP277275","article-title":"Characterization and regulation of wild-type and mutant TASK-1 two pore domain potassium channels indicated in pulmonary arterial hypertension","volume":"597","author":"Cunningham","year":"2019","journal-title":"J. Physiol."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1113\/jphysiol.2006.112888","article-title":"Supporting sensory transduction: Cochlear fluid homeostasis and the endocochlear potential","volume":"576","author":"Wangemann","year":"2006","journal-title":"J. Physiol."},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"103354","DOI":"10.1016\/j.scr.2024.103354","article-title":"Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR\/Cas9","volume":"76","author":"Ratnavadivel","year":"2024","journal-title":"Stem Cell Res."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/14\/6856\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:11:09Z","timestamp":1760033469000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/14\/6856"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,17]]},"references-count":175,"journal-issue":{"issue":"14","published-online":{"date-parts":[[2025,7]]}},"alternative-id":["ijms26146856"],"URL":"https:\/\/doi.org\/10.3390\/ijms26146856","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,17]]}}}