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Article

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

Cardiovascular research - 31 Dec 2025

Ramovs Veronika, Chen H Sophia, Patra Athina, Tjokrodirijo Rayman, van Veelen Peter, Mulder Aat A, Koning Roman I, Stöger Lauran, Hubner Catalina, Ibañez-Arenas Rodrigo, Morales Catalan Bernardo, Morandé Pilar, dell'Oro Rosario, Poblete Cristian, Schuster Andrés, Yubero María Joao, Palisson Francis, Has Cristina, Jongbloed Monique, Fuentes Ignacia, Mummery Christine L, Raymond Karine

Abstract excerpt

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-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...

Topics

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Fibrosis
Heart Failure
Induced Pluripotent Stem Cells
Intermediate Filaments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mitochondria, Heart

Myocytes, Cardiac

Source

Identifiers

PMID: 41348940
DOI: 10.1093/cvr/cvaf231

Genes

KLHL24

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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