Mark John Ranek

This study identifies how STUB1 mutations in SCA48 disrupt co-chaperone and ligase functions in a domain-specific manner, leading to clinical heterogeneity.

The paper identifies unique proteomic changes in ATTR-CM hearts, showing upregulated endocytosis and downregulated sarcomere proteins compared to controls.

This study shows that macrophages with constitutive mTORC1 activation via TSC2 deletion reduce inflammation and improve cardiac function after ischemia-reperfusion injury by increasing GPNMB expression.