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

Ramovs, Veronika; Chen, Sophia; Patra, Athina; Tjokrodirijo, Rayman; Van Veelen, Peter; Mulder, Aat; Koning, Roman; Stöger, Lauran; Hubner, Catalina; Ibañez, Rodrigo; Morales, Bernardo; Morandé, Pilar; Dell'Oro, Rosario; Poblete, Cristian; Schuster, Andrés; Joao, María; Palisson, Francis; Has, Cristina; Jongbloed, Monique; Fuentes, Ignacia; Mummery, Christine; Raymond, Karine

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

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KLHL24 mutation drives intermediate filament degradation, mitochondrial dysfunction and fibrosis in heart failure patients.pdf (25.94 MB)

Date

2025

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Article

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Artículos Medicina y Ciencias de la Salud

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1

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item.page.doiurl

https://doi.org/10.1093/cvr/cvaf231

URI

https://hdl.handle.net/11447/11121

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Abstract

Aims: 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-protea...

Citation

Ramovs, V., Chen, H. S., Patra, A., Tjokrodirijo, R., van Veelen, P., Mulder, A. A., Koning, R. I., Stöger, L., Hubner, C., Ibañez-Arenas, R., Morales Catalan, B., Morandé, P., dell'Oro, R., Poblete, C., Schuster, A., Yubero, M. J., Palisson, F., Has, C., Jongbloed, M., Fuentes, I., … Raymond, K. (2025). KLHL24 mutation drives intermediate filament degradation, mitochondrial dysfunction and fibrosis in heart failure patients. Cardiovascular research, 121(17), 2714–2730. https://doi.org/10.1093/cvr/cvaf231

Keywords

Desmin , Dilated cardiomyopathy , KLHL24 , Synemin , Vimentin

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