https://www.selleckchem.com/pr....oducts/apr-246-prima
The duplications result in the formation of identical chimeric ATAD3A/ATAD3C proteins, altered ATAD3 complexes and a striking reduction in mitochondrial oxidative phosphorylation complex I and its activity in heart tissue. duplications appear to act in a dominant-negative manner and the inheritance infers a low recurrence risk for families, unlike most pediatric mitochondrial diseases. More than 350 genes underlie mitochondrial diseases. In our experience the locus is now one of the five most common causes of nuclear-encoded
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