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ProteomicsGain-of-function RBM20 variants linked to severe dilated cardiomyopathy impair mitochondrial function.
We first performed solubility profiling in RBM20-WT, -P635L+/+ and -R636Q+/+ mice. We lysed murine ventricular tissues using either a mild detergent (NP-40) to extract only the soluble fraction of the proteome, or a strong detergent (SDS) to extract total proteomes, within the same experiment. Solub...
ORGANISM(S): Homo sapiens (Human) Mus musculus (Mouse) 
2026-07-19 | PXD057195 | Pride
Rbm20 Mitochondrial dysfunction Mice Solubility profiling Heart failure Human ipsc-derived cardioids Dcm 
TranscriptomicsDysregulated ribonucleoprotein granules impair mitochondrial activity in RBM20-dilated cardiomyopathy
Pathogenic variants in the RNA-binding motif protein 20 (RBM20) cause severe dilated cardiomyopathy (DCM). While loss-of-function (LoF) variants lead to splicing dysfunction, gain-of-function (GoF) variants also mislocalize the protein to cytoplasmic ribonucleoprotein (RNP) granules resulting in a m...
ORGANISM(S): Homo sapiens 
2026-07-17 | GSE305648 | GEO
GenomicsDysregulated ribonucleoprotein granules impair mitochondrial activity in RBM20-dilated cardiomyopathy
Dysregulated ribonucleoprotein granules impair mitochondrial activity in RBM20-dilated cardiomyopathy
PRJNA1307415 | ENA
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