Hélène M. Puccio

The paper shows that the ISCU M141I variant partially rescues Fe-S cluster assembly in FXN-deficient cells, preserving nuclear and cytosolic Fe-S proteins but not mitochondrial function.

This study identifies TLR4-mediated neuroimmune signaling as a driver of proprioceptive neuron degeneration in Friedreich ataxia and shows that inhibiting TLR4 reduces disease progression.

This study shows that frataxin depletion in DRG neurons causes reduced soma size and activates the AMPK metabolic pathway, with potential therapeutic implications using ALA.

This study characterizes a COQ8A-ataxia mouse model with a E548K mutation, finding no significant motor or cognitive impairments despite biochemical changes similar to a knockout model.

mitoXplorer 3.0 provides new tools for analyzing mitochondrial variability in single-cell RNA-seq data, with applications in understanding mitochondrial dysfunction in disease.

This study investigates whether FXN deficiency in proprioceptive neurons causes inflammatory and glial responses in DRG, identifying molecular pathways involved in FA pathogenesis.

The paper compares multi-omics data from three mouse models of partial frataxin deficiency to assess mitochondrial stress in the heart, finding mild transcriptional changes despite severe FXN reduction.