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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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Détails bibliographiques
Auteurs principaux: Tomassini, Barbara, Arcuri, Gaetano, Fortuni, Silvia, Sandi, Chiranjeevi, Ezzatizadeh, Vahid, Casali, Carlo, Condò, Ivano, Malisan, Florence, Al-Mahdawi, Sahar, Pook, Mark, Testi, Roberto
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2012
Sujets:
Accès en ligne: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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