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.
Transplanted Hematopoietic Stem Cells Reverse Damage From Friedreich's Ataxia
It is caused by a defect (mutation) in a gene Frataxin (FXN).
Jupiter Orphan Therapeutics awarded US FDA orphan drug designation for JOTROL to treat Friedreich's Ataxia
Low frataxin results in the accelerated death of peripheral sensory neurons, causing the disease.
FAST-DEVELOPS: Developing new therapeutics for Friedreich ataxia
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).
Determination of genotypic and phenotypic characteristics of Friedreich's ataxia and autosomal dominant spinocerebellar ataxia types 1,2, 3, and 6
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.
Down-regulation of bioenergetics in a cellular model of Friedreich Ataxia
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].
Dual Role of ROS as Signal and Stress Agents: Iron Tips the Balance in favor of Toxic Effects
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.
AAVLIFE RAISES $12 MILLION IN SERIES A FINANCING
a mitochondrial protein, frataxin, which has been linked to respiratory
Enfermedades neurodegenerativas: la ataxia espinocerebelosa tipo 7 en Mexico
Friedreich ataxia (FA or FRDA) is an autosomal recessive neurodegenerative disorder caused by mutations in the frataxin (FXN) gene located on chromosome 9q.
A high-throughput assay for frataxin allows for newborn screening, diagnosis, and treatment monitoring of Friedreich ataxia
Friedreich's Ataxia (FA) is a progressive, multisystem, degenerative disorder caused by a reduction in frataxin.
A Report on the National Conference on "Biomarkers for Diseases-Prospects & Challenges": 24th & 25th February 2012
Induction of Oxidative Metabolism by Mitochondrial Frataxin Inhibits Cancer Growth: Otto Warburg Revisited.
Monthly miracles: Nevada Homeopathic Integrative Medical Association conference: the Brain Trust--part 3
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.
Intellect Neurosciences/ViroPharma Sign $126.5 Mil Deal

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