{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T20:31:59Z","timestamp":1770496319244,"version":"3.49.0"},"reference-count":24,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2025,12,20]],"date-time":"2025-12-20T00:00:00Z","timestamp":1766188800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100007200","name":"Medical Faculty of the Ruhr-University Bochum","doi-asserted-by":"crossref","award":["F1074-2023"],"award-info":[{"award-number":["F1074-2023"]}],"id":[{"id":"10.13039\/501100007200","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100007200","name":"Medical Faculty of the Ruhr-University Bochum","doi-asserted-by":"crossref","award":["F1099-24"],"award-info":[{"award-number":["F1099-24"]}],"id":[{"id":"10.13039\/501100007200","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Deutsche Herzstiftung e. V."},{"name":"Erich and Hanna Klessmann Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCDD"],"abstract":"<jats:p>DES encodes the muscle-specific intermediate filament protein desmin, which is highly relevant to the structural integrity of cardiomyocytes. Mutations in this gene cause different cardiomyopathies including dilated cardiomyopathy. Here, we functionally validate DES-p.L112Q using SW-13, H9c2 cells, and cardiomyocytes derived from induced pluripotent stem cells by confocal microscopy in combination with deconvolution analysis. These experiments reveal an aberrant cytoplasmic aggregation of mutant desmin. In conclusion, these functional analyses support the re-classification of DES-p.L112Q as a likely pathogenic variant leading to dilated cardiomyopathy.<\/jats:p>","DOI":"10.3390\/jcdd13010003","type":"journal-article","created":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T11:43:31Z","timestamp":1766403811000},"page":"3","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Desmin-p.L112Q Disturbs Filament Formation and Is a Likely-Pathogenic Variant Associated with Dilated Cardiomyopathy"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-0959-1416","authenticated-orcid":false,"given":"Alexander","family":"L\u00fctkemeyer","sequence":"first","affiliation":[{"name":"Clinic for Thoracic and Cardiovascular Surgery, Erich and Hanna Klessmann Institute, Heart and Diabetes Center North Rhine Westphalia, Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"},{"name":"Medical School OWL, Heart and Diabetes Center North Rhine Westphalia, Bielefeld University, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-6852-634X","authenticated-orcid":false,"given":"Sabrina","family":"Vo\u00df","sequence":"additional","affiliation":[{"name":"Clinic for Thoracic and Cardiovascular Surgery, Erich and Hanna Klessmann Institute, Heart and Diabetes Center North Rhine Westphalia, Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"},{"name":"Medical School OWL, Heart and Diabetes Center North Rhine Westphalia, Bielefeld University, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-5990-8368","authenticated-orcid":false,"given":"Jonas","family":"Reckmann","sequence":"additional","affiliation":[{"name":"Clinic for Thoracic and Cardiovascular Surgery, Erich and Hanna Klessmann Institute, Heart and Diabetes Center North Rhine Westphalia, Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"},{"name":"Medical School OWL, Heart and Diabetes Center North Rhine Westphalia, Bielefeld University, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-3347-9888","authenticated-orcid":false,"given":"Joline","family":"Gro\u00df","sequence":"additional","affiliation":[{"name":"Clinic for Thoracic and Cardiovascular Surgery, Erich and Hanna Klessmann Institute, Heart and Diabetes Center North Rhine Westphalia, Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"},{"name":"Medical School OWL, Heart and Diabetes Center North Rhine Westphalia, Bielefeld University, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6899-7693","authenticated-orcid":false,"given":"Anna","family":"G\u00e4rtner","sequence":"additional","affiliation":[{"name":"Clinic for Thoracic and Cardiovascular Surgery, Erich and Hanna Klessmann Institute, Heart and Diabetes Center North Rhine Westphalia, Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"},{"name":"Medical School OWL, Heart and Diabetes Center North Rhine Westphalia, Bielefeld University, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Gummert","sequence":"additional","affiliation":[{"name":"Clinic for Thoracic and Cardiovascular Surgery, Erich and Hanna Klessmann Institute, Heart and Diabetes Center North Rhine Westphalia, Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"},{"name":"Medical School OWL, Heart and Diabetes Center North Rhine Westphalia, Bielefeld University, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9722-0007","authenticated-orcid":false,"given":"Hendrik","family":"Milting","sequence":"additional","affiliation":[{"name":"Clinic for Thoracic and Cardiovascular Surgery, Erich and Hanna Klessmann Institute, Heart and Diabetes Center North Rhine Westphalia, Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"},{"name":"Medical School OWL, Heart and Diabetes Center North Rhine Westphalia, Bielefeld University, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9202-2343","authenticated-orcid":false,"given":"Andreas","family":"Brodehl","sequence":"additional","affiliation":[{"name":"Clinic for Thoracic and Cardiovascular Surgery, Erich and Hanna Klessmann Institute, Heart and Diabetes Center North Rhine Westphalia, Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"},{"name":"Medical School OWL, Heart and Diabetes Center North Rhine Westphalia, Bielefeld University, Georgstrasse 11, 32545 Bad Oeynhausen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,12,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Xing, G., Chen, L., Lv, L., Xu, G., Duan, Y., Li, J., Li, X., and Wang, Q. 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