New publication from the Greenberg lab is now online at the Molecular Biology of the Cell (here).
This work, led by first author Dr. Samantha Barrick, examines a variant in troponin T associated with pediatric onset dilated cardiomyopathy. We show that this variant causes molecular and cellular alterations consistent with those seen in known pathogenic variants. We show that the molecular mechanism driving the early disease pathogenesis is reduced coupling between calcium binding to troponin C and thin filament activation. This in turn leads to changes in cellular contractility and sarcomeric organization.