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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Autori principali: Tomassini, Barbara, Arcuri, Gaetano, Fortuni, Silvia, Sandi, Chiranjeevi, Ezzatizadeh, Vahid, Casali, Carlo, Condò, Ivano, Malisan, Florence, Al-Mahdawi, Sahar, Pook, Mark, Testi, Roberto
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3373236/
https://ncbi.nlm.nih.gov/pubmed/22447512
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds110
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