frataxin


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frataxin

(fră-taks'in),
An iron-binding mitochondrial protein acting as a chaperone modulating aconitate hydratase activity; a deficiency results in Friedreich ataxia.
[Friedreich ataxia + -in]
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References in periodicals archive ?
FA is caused by reduced expression of a mitochondrial protein called frataxin (FXN) due to a two mutated or abnormal copies of the FXN gene.
Low frataxin results in the accelerated death of peripheral sensory neurons, causing the disease.
Re- increase in GAA repeat leads to a disorder in the synthesis of the frataxin protein, thus reducing mitochondrial respiratory activity which paves the way for accumulation of free radicals in the cell (1,14).
To study the pathophysiological mechanism of how frataxin deficiency causes the devastating disease, we created a cellular model of FRDA by stably knocking down frataxin in glioma LN428 cell line.
In patients, frataxin deficiency results in disruption of Fe-S cluster biosynthesis, severe mitochondrial iron overload, a hallmark of Fe-S defects, and increased sensitivity to oxidative stress [35].
Friedreich's ataxia is caused by a mutation in the frataxin gene, which results in progressive neurologic and cardiac symptoms typically first appearing in childhood or during the teenage years.
a mitochondrial protein, frataxin, which has been linked to respiratory
Friedreich ataxia (FA or FRDA) is an autosomal recessive neurodegenerative disorder caused by mutations in the frataxin (FXN) gene located on chromosome 9q.
Friedreich's Ataxia (FA) is a progressive, multisystem, degenerative disorder caused by a reduction in frataxin.
Induction of Oxidative Metabolism by Mitochondrial Frataxin Inhibits Cancer Growth: Otto Warburg Revisited.
Friedreich's Ataxia is rare hereditary disease affecting 1 in 50,000 individuals of European descent caused by a mutation in a gene which encodes frataxin, a protein essential for proper functioning of mitochondria, the energy pumps of the cell.