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Implementing biomarkers such as serum or CSF levels of copper-binding proteins (such as ceruloplasmin, ATP7B and SOD1) and expression profiles of cuproptosis-related genes (such as FDX1, DLAT and LIAS) will enable clinicians to assess the efficacy of copper modulation strategies and optimize treatment protocols for individual patients (8,279,281)

The table lists the amino acid positions identified as variants of FXN with impaired activity, both clinical variants of human FXN and those specifically designed based on the structures in mouse FXN and yeast Yhf1 (Santos et al., 2010

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This condition can cause severe respiratory problems, neurological issues, and other systemic effects