James W. McNamara

This study shows that gene therapy with AAV-ALPK3 improves heart function in mouse and human models of cardiomyopathy caused by ALPK3 variants.

The paper identifies a compound that selectively promotes cardiomyocyte proliferation through specific cell cycle mechanisms without affecting other cell types.

This study investigates the role of fast skeletal myosin binding protein-C in heart failure, finding that its expression exacerbates cardiac dysfunction and that its deletion improves heart function.

This study identifies a homozygous SECISBP2 variant causing lethal perinatal cardiomyopathy through loss of selenoprotein function, including GPX4, and suggests a ferroptosis mechanism.

This study shows that maturing human cardiac organoids enhances disease modeling and drug discovery by mimicking in vivo development and enabling therapeutic testing for DSP cardiomyopathy.

The paper quantifies UFMylation sites in mouse tissues and ALS patient biopsies, finding increased myosin UFMylation in ALS.

The paper evaluates the clinical validity of heterozygous ALPK3 loss-of-function variants as a cause of hypertrophic cardiomyopathy, finding strong gene-disease association with reduced penetrance.

This study investigates the molecular mechanisms of HCM caused by the MYBPC3 D389V variant using cardiac organoids and shows hypercontractility and mitochondrial defects that are rescued by a myosin inhibitor.

The paper identifies C18ORF25 interactors and characterizes its role in skeletal muscle physiology using mass spectrometry and single fiber proteomics.

This study identifies sMyBP-C's critical role in skeletal muscle development and function using gene-edited mouse models, showing its necessity for prenatal and postnatal muscle growth and structural integrity.