BiochemistryProceedings of the National Academy of SciencesPeer-reviewed
The Y951N patient mutation inactivates the intramolecular switch in human mitochondrial DNA POLgamma
Josefin M. E. Forslund, T. V. H. Nguyen, Vimal Parkash…·Sjoerd Wanrooij
The study shows the Y951N mutation in POLgamma impairs its ability to switch between DNA synthesis and degradation, causing mtDNA depletion without directly affecting polymerase or exonuclease activity.
2 citations