A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design

BACKGROUND: Friedreich's ataxia (FRDA) is the most common hereditary ataxia among caucasians. The molecular defect in FRDA is the trinucleotide GAA expansion in the first intron of the FXN gene, which encodes frataxin. No studies have yet reported frataxin protein and mRNA levels in a large coh...

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Detalhes bibliográficos
Main Authors: Saccà, Francesco, Puorro, Giorgia, Antenora, Antonella, Marsili, Angela, Denaro, Alessandra, Piro, Raffaele, Sorrentino, Pierpaolo, Pane, Chiara, Tessa, Alessandra, Brescia Morra, Vincenzo, Cocozza, Sergio, De Michele, Giuseppe, Santorelli, Filippo M., Filla, Alessandro
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3055871/
https://ncbi.nlm.nih.gov/pubmed/21412413
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0017627
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