MYBPC3-c.772G>A mutation results in haploinsufficiency and altered myosin cycling kinetics in a patient induced stem cell derived cardiomyocyte model of hypertrophic cardiomyopathy

Sonette Steczina, Saffie Mohran, Logan R.J. Bailey, Timothy S. McMillen, Kristina B. Kooiker, Neil B. Wood, Jennifer Davis, Michael J. Previs, Iacopo Olivotto, Josè Manuel Pioner, Michael A. Geeves, Corrado Poggesi, Michael Regnier

2024Journal of Molecular and Cellular Cardiology13 citationsDOI Open Access PDF

Topics & Concepts

HaploinsufficiencyHypertrophic cardiomyopathyKineticsMutationCardiomyopathyCell biologyChemistryBiologyInternal medicineGeneticsMedicinePhenotypeBiochemistryHeart failureGenePhysicsQuantum mechanicsCardiomyopathy and Myosin StudiesCongenital heart defects researchCardiovascular Function and Risk Factors

MYBPC3-c.772G&gt;A mutation results in haploinsufficiency and altered myosin cycling kinetics in a patient induced stem cell derived cardiomyocyte model of hypertrophic cardiomyopathy

Topics & Concepts

MYBPC3-c.772G>A mutation results in haploinsufficiency and altered myosin cycling kinetics in a patient induced stem cell derived cardiomyocyte model of hypertrophic cardiomyopathy