Open access
Jul 2026
Comprehensive biophysical and structural profiling of alpha-actinin-2 variants reveals mechanistic diversity in hypertrophic cardiomyopathy
It is established that HCM-linked ACTN2 variants compromise protein integrity through multiple mechanisms, highlight the ABD as a hotspot of vulnerability and provide a potential framework for interpreting cardiomyopathy-associated variants.
Maya Noureddine, H. Mikolajek, Nathan Cowieson et al.
· Nature Communications · 0 citations