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FARAFARA Cure FA

Friedreich's ataxia - a case of aberrant transcription termination?

Reduced expression of the mitochondrial protein Frataxin (FXN) is the underlying cause of Friedreich's ataxia. We propose a model of premature termination of FXN transcription induced by pathogenic expanded GAA repeats that links R-loop structures, antisense transcription, and heterochromatin formation as a novel mechanism of transcriptional repression in Friedreich's ataxia.

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Jen Farmer

Jen Farmer

Executive Director

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