A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design.

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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Bibliographic Details
Main Authors: Francesco Saccà, Giorgia Puorro, Antonella Antenora, Angela Marsili, Alessandra Denaro, Raffaele Piro, Pierpaolo Sorrentino, Chiara Pane, Alessandra Tessa, Vincenzo Brescia Morra, Sergio Cocozza, Giuseppe De Michele, Filippo M Santorelli, Alessandro Filla
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3055871?pdf=render

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http://europepmc.org/articles/PMC3055871?pdf=render

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