DNA methylation in Friedreich ataxia silences expression of frataxin isoform E

Epigenetic silencing in Friedreich ataxia (FRDA), induced by an expanded GAA triplet-repeat in intron 1 of the FXN gene, results in deficiency of the mitochondrial protein, frataxin. A lesser known extramitochondrial isoform of frataxin detected in erythrocytes, frataxin-E, is encoded via an alterna...

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Detalles Bibliográficos
Autores principales: Rodden, Layne N., Gilliam, Kaitlyn M., Lam, Christina, Rojsajjakul, Teerapat, Mesaros, Clementina, Dionisi, Chiara, Pook, Mark, Pandolfo, Massimo, Lynch, David R., Blair, Ian A., Bidichandani, Sanjay I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8943190/
https://www.ncbi.nlm.nih.gov/pubmed/35322126
http://dx.doi.org/10.1038/s41598-022-09002-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8943190/
https://www.ncbi.nlm.nih.gov/pubmed/35322126
http://dx.doi.org/10.1038/s41598-022-09002-5

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