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| deletion of exon 4 of the mouse Frda gene lead to embryonic lethality a few days after implantation whith no iron accumulation  | |
striated muscle frataxin-deficient line and a neuron/cardiac muscle frataxin-deficient line display cardiac hypertrophy without skeletal muscle involvement, large sensory neuron dysfunction without alteration of the small sensory and motor neurons, and deficient activities of complexes I-III of the respiratory chain and of the aconitases |
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Mice carrying a hepatocyte-specific disruption of the frataxin gene develop multiple liver tumours |
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in mouse FRDA model the Fe-S enzyme deficiency occurs at 4 weeks of age prior to cardiac dilatation and concomitant development of left ventricular hypertrophy and the mitochondrial iron accumulation occurs at a terminal stage |
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suppression of the Drosophila frataxin confers distinct phenotypes in larvae and adults, leading to giant long-lived larvae and to conditional short-lived adults resulting to diminished activities of numerous heme- and iron-sulfur-containing enzymes, loss of intracellular iron homeostasis and increased susceptibility to iron toxicity |
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disruption of Fxn protein frataxin specifically in murine hepatocytes leads to reduced life span and development of multiple hepatic tumors, increased oxidative stress, impaired respiration and reduced ATP levels and reduced activity of iron-sulfur cluster |
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frataxin-deficient cells are more prone to undergo stress-induced mitochondrial damage and apoptosis, while the overexpression of frataxin confers protection to a variety of cell types |
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frataxin silencing in HeLa cells caused a reduction of growth, inhibition of the activity of aconitase and superoxide dismutase-2 and reduction of cytosolic ferritins without alteration of mitochondrial iron content |
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frataxin deficiency in murine liver is associated with increased basal levels of oxidative DNA base damage |