Article

Transcriptional profiling of isogenic Friedreich ataxia induced pluripotent stem cell-derived neurons

2018-10-30

Abstract excerpt

Friedreich ataxia (FRDA) is a rare childhood neurodegenerative disorder with no effective treatment. FRDA is caused by transcriptional silencing of the FXN gene and consequent loss of the essential mitochondrial protein frataxin. Based on the knowledge that a GAA•TTC repeat expansion in the first intron of FXN leads to heterochromatin formation and gene silencing, we have shown that members of the 2-aminobenzami...

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Literature Corpus work: bf3b79df-ce82-5c39-a2b4-f55e5866ce20
DOI: 10.1101/457093

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