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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
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DbLabel: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: KLHL24 mutation drives intermediate filament degradation, mitochondrial dysfunction and fibrosis in heart failure patients.
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  Data: <searchLink fieldCode="AU" term="%22Ramovs+V%22">Ramovs V</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Chen+HS%22">Chen HS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Patra+A%22">Patra A</searchLink>; Department of Anatomy and Embryology, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands.<br /><searchLink fieldCode="AU" term="%22Tjokrodirijo+R%22">Tjokrodirijo R</searchLink>; Center for Proteomics and Metabolomics, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Veelen+P%22">van Veelen P</searchLink>; Center for Proteomics and Metabolomics, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands.<br /><searchLink fieldCode="AU" term="%22Mulder+AA%22">Mulder AA</searchLink>; Electron Microscopy Facility, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands.<br /><searchLink fieldCode="AU" term="%22Koning+RI%22">Koning RI</searchLink>; Electron Microscopy Facility, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands.<br /><searchLink fieldCode="AU" term="%22Stöger+L%22">Stöger L</searchLink>; Department of Radiology, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, Netherlands.<br /><searchLink fieldCode="AU" term="%22Hubner+C%22">Hubner C</searchLink>; DEBRA Chile, Francisco de Villagra 392, Ñuñoa, Santiago 7760099, Chile.<br /><searchLink fieldCode="AU" term="%22Ibañez-Arenas+R%22">Ibañez-Arenas R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Morales+Catalan+B%22">Morales Catalan B</searchLink>; Pathological Anatomy, Molecular Biology and Genetics, Atrys-Chile, Las Condes, Región Metropolitana, Santiago 7550277, Chile.<br /><searchLink fieldCode="AU" term="%22Morandé+P%22">Morandé P</searchLink>; DEBRA Chile, Francisco de Villagra 392, Ñuñoa, Santiago 7760099, Chile.<br /><searchLink fieldCode="AU" term="%22dell'Oro+R%22">dell'Oro R</searchLink>; DEBRA Chile, Francisco de Villagra 392, Ñuñoa, Santiago 7760099, Chile.<br /><searchLink fieldCode="AU" term="%22Poblete+C%22">Poblete C</searchLink>; Escuela de Tecnología Médica, Facultad de Medicina y Ciencias de la Salud, Universidad Mayor, Providencia, Santiago 7500994, Chile.<br /><searchLink fieldCode="AU" term="%22Schuster+A%22">Schuster A</searchLink>; Department of Cardiology, Clínica Alemana Universidad del Desarrollo, Las Condes, Santiago 7610658, Chile.<br /><searchLink fieldCode="AU" term="%22Yubero+MJ%22">Yubero MJ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Palisson+F%22">Palisson F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Has+C%22">Has C</searchLink>; Epidermolysis Bullosa Centre, Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Hauptstraße 7, Freiburg 79104, Germany.<br /><searchLink fieldCode="AU" term="%22Jongbloed+M%22">Jongbloed M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Fuentes+I%22">Fuentes I</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mummery+CL%22">Mummery CL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Raymond+K%22">Raymond K</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%220077427%22">Cardiovascular research</searchLink> [Cardiovasc Res] 2025 Dec 31; Vol. 121 (17), pp. 2714-2730.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+Journals%22">Oxford Journals </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>0077427 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1755-3245 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200086363%22">00086363 </searchLink><i>NLM ISO Abbreviation: </i>Cardiovasc Res <i>Subsets: </i>MEDLINE
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              Text: 2025 Dec 31
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