Christopher N. Toepfer

This study identifies SVIL haploinsufficiency as a cause of hypertrophic cardiomyopathy by impairing mechanotransduction and cellular energetics, with potential therapeutic implications for mitochondrial-targeted treatments.

This paper identifies a nanodomain mechanism regulating troponin I phosphorylation and demonstrates a peptide that selectively enhances relaxation without compromising systolic function in heart failure.

This study shows that DSG2 deficiency causes cardiac dysfunction by impairing Z-disc and intercalated disc mechanotransduction, leading to structural and functional cardiac defects.

This study identifies an ALPK3 truncation variant causing HCM and shows that mavacamten partially rescues cardiac contractility and calcium handling defects in a mouse model.

The paper shows that MYBPC3 mutations disrupt myosin relaxation states, leading to hyper-contractility in HCM, and that targeting myosin can alleviate these effects.