Distinct mitochondrial DNA single-nucleotide variant signatures in TOP3A-deficient cardiomyocytes
Marianne Gaubert, Halima Alachram, Ipek Ilgin Gönenç…·Bernd Wollnik
This study identifies unique mtDNA mutation patterns in TOP3A-deficient cardiomyocytes, linking mtDNA instability to mitochondrial dysfunction in cardiac disease.