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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...
Autores principales: | Calmels, Nadège, Schmucker, Stéphane, Wattenhofer-Donzé, Marie, Martelli, Alain, Vaucamps, Nadège, Reutenauer, Laurence, Messaddeq, Nadia, Bouton, Cécile, Koenig, Michel, Puccio, Hélène |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2710521/ https://www.ncbi.nlm.nih.gov/pubmed/19629184 http://dx.doi.org/10.1371/journal.pone.0006379 |
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