The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.

BACKGROUND:Friedreich ataxia (FRDA), the most common form of recessive ataxia, is due to reduced levels of frataxin, a highly conserved mitochondrial iron-chaperone involved in iron-sulfur cluster (ISC) biogenesis. Most patients are homozygous for a (GAA)(n) expansion within the first intron of the...

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Main Authors: Nadège Calmels, Stéphane Schmucker, Marie Wattenhofer-Donzé, Alain Martelli, Nadège Vaucamps, Laurence Reutenauer, Nadia Messaddeq, Cécile Bouton, Michel Koenig, Hélène Puccio
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2009-07-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC2710521?pdf=render