KLHL24 mutation drives intermediate filament degradation, mitochondrial dysfunction and fibrosis in heart failure patients.

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Title: KLHL24 mutation drives intermediate filament degradation, mitochondrial dysfunction and fibrosis in heart failure patients.
Authors: Ramovs V; Department of Anatomy and Embryology, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands.; The Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands., Chen HS; Department of Anatomy and Embryology, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands.; Department of Cardiology, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands., Patra A; Department of Anatomy and Embryology, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands., Tjokrodirijo R; Center for Proteomics and Metabolomics, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands., van Veelen P; Center for Proteomics and Metabolomics, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands., Mulder AA; Electron Microscopy Facility, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands., Koning RI; Electron Microscopy Facility, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands., Stöger L; Department of Radiology, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands., Hubner C; DEBRA Chile, Francisco de Villagra 392, Ñuñoa, Santiago 7760099, Chile., Ibañez-Arenas R; Facultad de Medicina, Clínica Alemana Universidad de Desarrollo, Las Condes, Santiago 7610658, Chile.; Department of Cardiology, Clínica Alemana Universidad del Desarrollo, Las Condes, Santiago 7610658, Chile., Morales Catalan B; Pathological Anatomy, Molecular Biology and Genetics, Atrys-Chile, Las Condes, Región Metropolitana, Santiago 7550277, Chile., Morandé P; DEBRA Chile, Francisco de Villagra 392, Ñuñoa, Santiago 7760099, Chile., dell'Oro R; DEBRA Chile, Francisco de Villagra 392, Ñuñoa, Santiago 7760099, Chile., Poblete C; Escuela de Tecnología Médica, Facultad de Medicina y Ciencias de la Salud, Universidad Mayor, Providencia, Santiago 7500994, Chile., Schuster A; Department of Cardiology, Clínica Alemana Universidad del Desarrollo, Las Condes, Santiago 7610658, Chile., Yubero MJ; DEBRA Chile, Francisco de Villagra 392, Ñuñoa, Santiago 7760099, Chile.; Pediatrics and Pediatric Infectious Diseases Clínica Alemana, Facultad de Medicina Alemana, Universidad del Desarrollo, Las Condes, Santiago 7610658, Chile., Palisson F; DEBRA Chile, Francisco de Villagra 392, Ñuñoa, Santiago 7760099, Chile.; Servicio de Dermatología, Facultad de Medicina Clínica Alemana, Universidad del Desarrollo, Las Condes, Santiago 7610658, Chile., Has C; Epidermolysis Bullosa Centre, Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Hauptstraße 7, Freiburg 79104, Germany., Jongbloed M; Department of Anatomy and Embryology, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands.; Department of Cardiology, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands., Fuentes I; DEBRA Chile, Francisco de Villagra 392, Ñuñoa, Santiago 7760099, Chile.; Departamento de Biología Celular y Molecular, Facultad de Ciencias Biológicas, Av. Alameda Libertador Bernardo O'Higgins 340, Pontificia Universidad Católica de Chile, Santiago 8320165, Chile.; Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Universidad del Desarrollo, Las Condes, Santiago 7610658, Chile., Mummery CL; Department of Anatomy and Embryology, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands.; The Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands., Raymond K; Department of Anatomy and Embryology, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands.; The Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands.; University of Grenoble Alpes, CEA, INSERM, IRIG, UA13 BGE, Biomics, Av. des Martyrs 17, Grenoble 38000, France.
Source: Cardiovascular research [Cardiovasc Res] 2025 Dec 31; Vol. 121 (17), pp. 2714-2730.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Oxford Journals Country of Publication: England NLM ID: 0077427 Publication Model: Print Cited Medium: Internet ISSN: 1755-3245 (Electronic) Linking ISSN: 00086363 NLM ISO Abbreviation: Cardiovasc Res Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1755-3245
DOI:10.1093/cvr/cvaf231