These findings auger well for using frataxin levels measured by the validated stable isotope dilution ultrahigh-performance liquid chromatography–multiple reaction monitoring/mass spectrometry assay to monitor therapeutic interventions and the natural history of FRDA. Our study also illustrates the utility of using whole blood for protein disease biomarker discovery and validation.
Sunday, February 19, 2023
Liquid chromatography-mass spectrometry analysis of frataxin proteoforms in whole blood as biomarkers of the genetic disease friedreich’s ataxia
Rojsajjakul, T., Wu, L., Grady, C. B., Hwang, W.-T., Mesaros, C., Lynch, D. R., & Blair, I. A. (2023). Liquid chromatography-mass spectrometry analysis of frataxin proteoforms in whole blood as biomarkers of the genetic disease friedreich’s ataxia. Analytical Chemistry. doi:10.1021/acs.analchem.3c00091
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