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Author

Linda H. Müller

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Sep 2026

Dysregulated Ribonucleoprotein Granules Impair Mitochondrial Function in RBM20-Related Dilated Cardiomyopathy.

BACKGROUND Pathogenic variants in RBM20 cause severe dilated cardiomyopathy. Loss-of-function variants disrupt splicing; neomorphic gain-of-function (GoF) variants also mislocalize RBM20 to cytoplasmic ribonucleoprotein granules and are associated with more aggressive disease. The mechanism by which RBM20 mislocalizati...

Julia Kornienko, Linda H. Müller, A. Nickel et al. · 0 citations
Open access Jul 2026

Damaging RBM20 E-rich domain variants are not rescued by gene replacement

The data indicate that pathogenic E-rich domain variants reduce RBM20 protein abundance, but that their mechanism is unlikely to be explained by haploinsufficiency alone.

Bai Fang, Kaiser Chua, Daniel Y. Li et al. · 0 citations

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