Amino acid substitutions hydrophilizing the core of titin domains cause dilated cardiomyopathy
I. Martinez-Martin, A. Crousilles, J. P. Ochoa, D. Velazquez-Carreras, S. A. Mortensen, E. Herrero-Galan, F. Dominguez, P. Garcia-Pavia, D. De Sancho, M. Wilmanns, J. Alegre-Cebollada
The paper identifies amino acid substitutions in titin domains that increase hydrophilicity and cause dilated cardiomyopathy by destabilizing the protein structure.
bioRxiv · Jun 2, 2023Biochemistry