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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
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