{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T04:25:45Z","timestamp":1792729545319,"version":"4.5.0"},"reference-count":60,"publisher":"Oxford University Press (OUP)","issue":"17","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100019725","name":"DEBRA Austria","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100019725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Foundation","doi-asserted-by":"publisher","award":["NNF21CC0073729"],"award-info":[{"award-number":["NNF21CC0073729"]}],"id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,31]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>A striking aspect of epidermolysis bullosa patients with a mutation in KLHL24 (KLHL24mut) is their life-threatening deterioration of heart function. KLHL24 is a component of the ubiquitin-proteasome system and acts as a substrate-specific adaptor protein for E3 ubiquitin ligase. KLHL24mut is thought to represent a gain-of-function mutation, with associated cardiac and skin pathologies arising from the excessive degradation of its target proteins. Although reduced desmin levels in cardiomyocytes (CMs) have already been documented, the potential involvement of additional mechanisms in KLHL24mut -driven heart pathology remains unexplored.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>We report on two patients with KLHL24mut who recently manifested heart failure. To gain insights into their physiopathology, we integrated clinical data with proteomic analyses of heart tissue as well as human induced pluripotent stem cell (hiPSC) models carrying KLHL24mut. Mass spectrometry analysis of CMs differentiated from patient-derived hiPSCs mirrored the proteomic profile of their corresponding left ventricle tissue samples. KLHL24mut resulted in a reduction of several intermediate filaments (IF), mitochondrial and muscle fibre proteins as well as the emergence of an early fibrotic signature. By utilising various hiPSC-derived cardiac models along with flow cytometry, immunofluorescence, and western blot analyses, we confirmed that the excessive proteasomal activity of endogenous KLHL24mut caused a decrease in levels of desmin, synemin and vimentin, IF proteins of CMs and cardiac fibroblasts. Moreover, KLHL24mut led to mitochondrial mislocalization and increased mitophagy, reduced PKA activity, and sarcomere shortening in CMs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The deterioration of heart function in patients with KLHL24mut is driven by excessive proteasome-dependent degradation of multiple IF proteins across various cardiac cell types. Monotypic hiPSC-derived CMs and end-stage patient-derived cardiac explants from patients exhibit similar features, uncovering early pathological mechanisms and identifying a list of potential novel KLHL24mut target proteins. Finally, our findings validate that hiPSC-derived CMs represent a relevant model for future studies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/cvr\/cvaf231","type":"journal-article","created":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T12:58:39Z","timestamp":1762865919000},"page":"2714-2730","source":"Crossref","is-referenced-by-count":2,"title":["<i>KLHL24<\/i>\n                    mutation drives intermediate filament degradation, mitochondrial dysfunction and fibrosis in heart failure patients"],"prefix":"10.1093","volume":"121","author":[{"given":"Veronika","family":"Ramovs","sequence":"first","affiliation":[{"name":"Department of Anatomy and Embryology, Leiden University Medical Center , Albinusdreef 2, Leiden 2333 ZA ,","place":["Netherlands"]},{"name":"The Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Leiden University Medical Center , Albinusdreef 2, Leiden 2333 ZA ,","place":["Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H Sophia","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Leiden University Medical Center , Albinusdreef 2, Leiden 2333 ZA ,","place":["Netherlands"]},{"name":"Department of Cardiology, Leiden University Medical Center , Albinusdreef 2, Leiden 2333 ZA ,","place":["Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athina","family":"Patra","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Leiden University Medical Center , Albinusdreef 2, Leiden 2333 ZA ,","place":["Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rayman","family":"Tjokrodirijo","sequence":"additional","affiliation":[{"name":"Center for Proteomics and Metabolomics, Leiden University Medical Center , Albinusdreef 2, Leiden 2333 ZA ,","place":["Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"van Veelen","sequence":"additional","affiliation":[{"name":"Center for Proteomics and Metabolomics, Leiden University Medical Center , Albinusdreef 2, Leiden 2333 ZA ,","place":["Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aat A","family":"Mulder","sequence":"additional","affiliation":[{"name":"Electron Microscopy Facility, Leiden University Medical Center , Albinusdreef 2, Leiden 2333 ZA ,","place":["Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roman I","family":"Koning","sequence":"additional","affiliation":[{"name":"Electron Microscopy Facility, Leiden University Medical Center , Albinusdreef 2, Leiden 2333 ZA ,","place":["Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauran","family":"St\u00f6ger","sequence":"additional","affiliation":[{"name":"Department of Radiology, Leiden University Medical Center , Albinusdreef 2, Leiden 2333 ZA ,","place":["Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catalina","family":"Hubner","sequence":"additional","affiliation":[{"name":"DEBRA Chile , Francisco de Villagra 392, \u00d1u\u00f1oa, Santiago 7760099 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo","family":"Iba\u00f1ez-Arenas","sequence":"additional","affiliation":[{"name":"Facultad de Medicina, Cl\u00ednica Alemana Universidad de Desarrollo , Las Condes, Santiago 7610658 ,","place":["Chile"]},{"name":"Department of Cardiology, Cl\u00ednica Alemana Universidad del Desarrollo , Las Condes, Santiago 7610658 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernardo","family":"Morales Catalan","sequence":"additional","affiliation":[{"name":"Pathological Anatomy, Molecular Biology and Genetics , Atrys-Chile, Las Condes, Regi\u00f3n Metropolitana, Santiago 7550277 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Morand\u00e9","sequence":"additional","affiliation":[{"name":"DEBRA Chile , Francisco de Villagra 392, \u00d1u\u00f1oa, Santiago 7760099 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosario","family":"dell'Oro","sequence":"additional","affiliation":[{"name":"DEBRA Chile , Francisco de Villagra 392, \u00d1u\u00f1oa, Santiago 7760099 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristian","family":"Poblete","sequence":"additional","affiliation":[{"name":"Escuela de Tecnolog\u00eda M\u00e9dica, Facultad de Medicina y Ciencias de la Salud, Universidad Mayor , Providencia, Santiago 7500994 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9s","family":"Schuster","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Cl\u00ednica Alemana Universidad del Desarrollo , Las Condes, Santiago 7610658 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Joao","family":"Yubero","sequence":"additional","affiliation":[{"name":"DEBRA Chile , Francisco de Villagra 392, \u00d1u\u00f1oa, Santiago 7760099 ,","place":["Chile"]},{"name":"Pediatrics and Pediatric Infectious Diseases Cl\u00ednica Alemana, Facultad de Medicina Alemana, Universidad del Desarrollo , Las Condes, Santiago 7610658 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis","family":"Palisson","sequence":"additional","affiliation":[{"name":"DEBRA Chile , Francisco de Villagra 392, \u00d1u\u00f1oa, Santiago 7760099 ,","place":["Chile"]},{"name":"Servicio de Dermatolog\u00eda, Facultad de Medicina Cl\u00ednica Alemana, Universidad del Desarrollo , Las Condes, Santiago 7610658 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6066-507X","authenticated-orcid":false,"given":"Cristina","family":"Has","sequence":"additional","affiliation":[{"name":"Epidermolysis Bullosa Centre, Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg , Hauptstra\u00dfe 7, Freiburg 79104 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9132-0418","authenticated-orcid":false,"given":"Monique","family":"Jongbloed","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Leiden University Medical Center , Albinusdreef 2, Leiden 2333 ZA ,","place":["Netherlands"]},{"name":"Department of Cardiology, Leiden University Medical Center , Albinusdreef 2, Leiden 2333 ZA ,","place":["Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacia","family":"Fuentes","sequence":"additional","affiliation":[{"name":"DEBRA Chile , Francisco de Villagra 392, \u00d1u\u00f1oa, Santiago 7760099 ,","place":["Chile"]},{"name":"Departamento de Biolog\u00eda Celular y Molecular, Facultad de Ciencias Biol\u00f3gicas, Av. Alameda Libertador Bernardo O'Higgins 340, Pontificia Universidad Cat\u00f3lica de Chile , Santiago 8320165 ,","place":["Chile"]},{"name":"Centro de Gen\u00e9tica y Gen\u00f3mica, Facultad de Medicina Cl\u00ednica Alemana, Universidad del Desarrollo , Las Condes, Santiago 7610658 ,","place":["Chile"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine L","family":"Mummery","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Embryology, Leiden University Medical Center , Albinusdreef 2, Leiden 2333 ZA ,","place":["Netherlands"]},{"name":"The Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Leiden University Medical Center , Albinusdreef 2, Leiden 2333 ZA ,","place":["Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5892-8117","authenticated-orcid":false,"given":"Karine","family":"Raymond","sequence":"additional","affiliation":[{"name":"Department of Anatomy and 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