Functional characterization of two variants in the mitochondrial topoisomerase gene TOP1MT that impact regulation of the mitochondrial genome
Iman Al Khatib, Jingti Deng, Andrew Symes, Marina Kerr, Hongliang Zhang, Shar-Yin Naomi Huang, Yves G. Pommier, Aneal Khan, Timothy E. Shutt
The paper characterizes two TOP1MT variants in a patient with hypertrophic cardiomyopathy, showing both impair mitochondrial functions but affect different aspects of mtDNA regulation.
Journal of Biological Chemistry · Aug 24, 2022Peer-reviewedMolecular Biology