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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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Tomassini, Barbara, Arcuri, Gaetano, Fortuni, Silvia, Sandi, Chiranjeevi, Ezzatizadeh, Vahid, Casali, Carlo, Condò, Ivano, Malisan, Florence, Al-Mahdawi, Sahar, Pook, Mark, Testi, Roberto
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2012
Gaiak:
Articles
Sarrera elektronikoa: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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