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...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2009-07-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC2710521?pdf=render |