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The Hippo and Canonical WNT Pathways Are Suppressed Prior to and in the Absence of Cardiac Dysfunction in Human Arrhythmogenic Cardiomyopathy Caused by Desmoplakin Truncations

ABSTRACT: The RNA-Seq studies performed in the endomyocardial biopsy samples from human patients with defined truncating mutations in the DSP gene and normal right ventricular size and function, identified dysregulation of over two-dozen TRs, including the Hippo/cWNT pathways, early in the course of ACM. The findings of the RNA-Seq were corroborated by immunoblotting and immunofluorescence studies showing reduced protein levels of the TRs of the Hippo/cWNT pathways in the ACM hearts. Dysregulation of these pathways early and prior to the onset of cardiac dysfunction suggest their pathogenic role in ACM.

ORGANISM(S): Homo sapiens

PROVIDER: GSE156869 | GEO | 2023/08/24

REPOSITORIES: GEO

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