Author

Michael J. Greenberg

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Open access Sep 2026

Different Substitutions at the Same β-Myosin Residue Underlie Divergent Molecular Phenotypes and Distinct Cardiomyopathies.

In genetic cardiomyopathies, a frequently described phenomenon is how similar mutations in one protein can lead to discrete clinical phenotypes. One example is illustrated by two mutations in beta myosin heavy chain (MYH7) that are linked to hypertrophic cardiomyopathy (HCM) (Ile467Val, I467V) and left ventricular non-...

Sarah J. Lehman, Artur Meller, Shahlo O. Solieva et al. · Journal of Biological Chemis... · 0 citations

Open access Aug 2026

Mitophagy Facilitates Cytosolic Proteostasis to Preserve Cardiac Function

Background: Protein quality control (PQC) is critical for maintaining sarcomere structure and function in cardiomyocytes. Mutations in PQC pathway proteins, namely CRYAB-R120G (arginine to glycine at position 120) and BAG3-P209L (proline to lysine at position 209) induce protein aggregates and cardiomyopathy in humans....

David R. Rawnsley, Moydul Islam, Chen Zhao et al. · Circulation Research · 0 citations