Svetlana Reilly

Peroxiredoxin-6 protects against oxidative stress-mediated hypertrophic remodeling in JPH2-A399S knock-in mice

Background Most mutations causing hypertrophic cardiomyopathy (HCM) affect sarcomeric proteins. Mutations in junctophilin-2 (JPH2) are also implicated, but the underlying mechanisms remain unclear. An A405S variant in JPH2 was identified in a male adolescent patient with interven...