Article

Quantification of human mature frataxin protein expression in nonhuman primate hearts after gene therapy

2023-06-29

Abstract excerpt

<title>Abstract</title> <p>Deficiency in human mature frataxin (hFXN-M) protein is responsible for the devastating neurodegenerative and cardiodegenerative disease of Friedreich’s ataxia (FRDA). It results primarily by epigenetic silencing the <italic>FXN</italic> gene due to up to 1400 GAA triplet repeats in intron 1 of both alleles of the gene; a subset of approximately 3% of FRDA patients have a mutation on on...

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Literature Corpus work: 1d92bdc4-a5ba-558f-b38b-0b483bbb5dca
DOI: 10.21203/rs.3.rs-3121549/v1

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