Saturday, March 2, 2024

Frataxin Traps Low Abundance Quaternary Structure to Stimulate Human Fe-S Cluster Biosynthesis

1. Cory S, Lin C-W, Havens S, Patra S, Putnam C, Shirzadeh M, et al. Frataxin Traps Low Abundance Quaternary Structure to Stimulate Human Fe-S Cluster Biosynthesis. ChemRxiv. 2024; doi:10.26434/chemrxiv-2024-v0gw7 
 This content is a preprint and has not been peer-reviewed. The findings support architectural switching as a regulatory mechanism linked to FXN activation of the human Fe-S cluster biosynthetic complex and provide new opportunities for therapeutic interventions of the fatal neurodegenerative disease FRDA.

Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia

Lynch, D.R., Subramony, S., Lin, K.Y. et al. Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia. Pediatr Cardiol (2024). doi:10.1007/s00246-024-03429-5 

The present study shows that some FRDA patients present based on cardiac features, suggesting that earlier identification of FRDA might occur through enhancing awareness of FRDA among pediatric cardiologists who see such patients. This is important in the context of newly identified therapies for FRDA