Article
A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design.
PloS one - 11 Mar 2011
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
Abstract excerpt
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 cohort of FRDA patients, carriers and controls. METHODOLOGY/PRINCIPAL FINDINGS: We enrolled 24 patients with classic FRDA...
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