Cell BiologybioRxiv
Tissue specific requirements for ECSIT in mitochondrial complex I assembly
T. L. Nicol, S. Falcone, A. Blease…·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.
DOI 10.1093/cvr/cvad101