Tissue specific requirements for ECSIT in mitochondrial complex I assembly
T. L. Nicol, S. Falcone, A. Blease, P. Vikhe, G. Civiletto, S. S. Omari, C. Viscomi, K. Patel, P. K. Potter
The paper identifies a mutation in ECSIT that specifically disrupts mitochondrial complex I assembly in heart tissue, causing hypertrophic cardiomyopathy without affecting other tissues.
bioRxiv · Apr 1, 2021Cell Biology