RNA-seq and differential gene expression enrichment analyses demonstrated that frataxin deficiency affected the expression of glycolytic pathway genes in neurons and extracellular matrix pathway genes in cardiomyocytes. Genes in these pathways were differentially expressed when compared to a control and restored to control levels when FRDA cells were supplemented with frataxin.
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Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC-neurons and cardiomyocytes
Angulo, M. B., Bertalovitz, A., Argenziano, M. A., Yang, J., Patel, A., Zesiewicz, T., & McDonald, T. V. (2022). Molecular Genetics & Genomic Medicine, 00, e2093. doi:10.1002/mgg3.2093