Massimo Pandolfo

This study shows that microglia from Friedreich Ataxia patients have an intrinsic pro-inflammatory phenotype due to FXN deficiency, identifying potential therapeutic targets.

This paper identifies cell-type-specific transcriptional biomarkers in Friedreich ataxia through meta-analysis of bulk RNA-seq datasets and develops an interactive transcriptomic atlas.

The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.

The paper describes a protocol to generate primary proprioceptive neurons from iPSCs and applies it to a Friedreich ataxia patient model.

This study shows that FXN deficiency in FRDA patient-derived PSNs can be partially reversed by a benzamide HDAC inhibitor, restoring Fe-S proteins and reducing oxidative stress.