BiochemistrybioRxiv
Amino acid substitutions hydrophilizing the core of titin domains cause dilated cardiomyopathy
I. Martinez-Martin, A. Crousilles, J. P. Ochoa…·J. Alegre-Cebollada
The paper identifies amino acid substitutions in titin domains that increase hydrophilicity and cause dilated cardiomyopathy by destabilizing the protein structure.
DOI 10.1016/j.celrep.2023.113490