It is demonstrated that loss of Smyd5 induces rapid progression to heart failure accompanied by robust inflammatory activation, including a ∼100-fold increase in Il-6 expression, accompanied by rapid progression of cardiac remodeling and heart failure.
R. Bia, Samuel M. Hickenlooper, Mickey R. Miller et al.· bioRxiv· 0 citations
It is shown that EFHD1, a Ca2+-dependent actin cross-linker, stabilizes endoplasmic reticulum–mitochondria contact sites (ERMCS) by detecting spatiotemporal coincidence of interorganellar proximity and ER Ca2+ release, and suggested EFHD1 inhibition as a therapeutic strategy.
D. Eberhardt, Emma C. Rekate, Yasmin B. Masini et al.· Journal of Clinical Investig...· 0 citations
The first functional characterization of the cardiomyopathy-associated SMYD1 N101S variant identified in a child with severe infantile cardiomyopathy is provided, establishing a mechanistic link between SMYD1 dysfunction and infantile cardiomyopathy and highlighting the importance of integrating genomic and functional...
Marta W. Szulik, Clint Gwynn, Magnus Creed et al.· bioRxiv· 0 citations
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