In addition, GSEA revealed that highly significant decreases in the OXPHOS system in the ATAD3 deletion cells (FDR q-value < 1 × 10 −16 for Subjects S1a and S5) correlated with disease severity ( Fig. 7 F).
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ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
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