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Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model
Friedreich's ataxia (FRDA) is the most common hereditary ataxia, affecting ∼3 in 100 000 individuals in Caucasian populations. It is caused by intronic GAA repeat expansions that hinder the expression of the FXN gene, resulting in defective levels of the mitochondrial protein frataxin. Sensory...
Autores principales: | Tomassini, Barbara, Arcuri, Gaetano, Fortuni, Silvia, Sandi, Chiranjeevi, Ezzatizadeh, Vahid, Casali, Carlo, Condò, Ivano, Malisan, Florence, Al-Mahdawi, Sahar, Pook, Mark, Testi, Roberto |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3373236/ https://www.ncbi.nlm.nih.gov/pubmed/22447512 http://dx.doi.org/10.1093/hmg/dds110 |
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