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FARAFARA Cure FA

FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia

This study shows that silencing of the promotor region of the FXN gene which was previously evaluated in FA patient-derived blood samples (publication - http://www.ncbi.nlm.nih.gov/pubmed/25112975) is also seen in the YG8sR mouse model with FA. The authors found that in YG8sR the deficiency of FXN transcript extended both upstream and downstream of the expanded GAA triplet-repeat, suggestive of deficient transcriptional initiation. This pattern of deficiency was seen in all tissues tested, irrespective of whether they are known to be affected or spared in disease pathogenesis, in both neuronal and non-neuronal tissues, and in cultured primary fibroblasts.

Read more: FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia


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Jen Farmer

Jen Farmer

Executive Director

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