Jill S. Napierala

This paper establishes that FRDA autonomic neurons are hyperexcitable and exhibit mitochondrial dysfunction using iPSC-derived models.

This study uses iPSCs from FRDA patients to model cardiac dysfunction, finding transcriptional dysregulation and phenotypes like increased cell size and mitochondrial stress.

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.

This study shows that anti-gene oligonucleotides targeting GAA*TTC repeats in Friedreichs ataxia increase FXN expression in patient cells.

This study examines somatic instability of the FGF14 GAA·TTC repeat in SCA27B, finding a cerebellar-specific expansion bias and increased instability in cerebellar regions compared to other brain areas.

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.