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On the basis of recent studies of various conditions in many different organisms (from microorganisms to humans), including human diseases originating from mutations in genes functionally related to FXN , we tried to reconcile the various pathogenic manifestations resulting from frataxin depletion and argue for a prominent and early role of impaired responses to oxidative insults in FA

Short-read genome sequencing allows en route diagnosis of patients with atypical Friedreich ataxia

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Together, these findings suggest that VRK2-deficient PC cells exhibit a metabolic preference for GSH dependency, implying that VRK2 has the potential to regulate GSH biosynthesis