frataxin


Also found in: Acronyms, Wikipedia.

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]
Farlex Partner Medical Dictionary © Farlex 2012
Mentioned in ?
References in periodicals archive ?
The classic Friedreich's ataxia phenotype (95-98%) is due to a homozygous GAA triplet repeat expansion in intron 1 of the FXN gene (Figure 1(a)), which results in low frataxin protein levels, whereas compound heterozygous (2-5%) individuals possess GAA trinucleotide repeat expansion on one allele and point mutation on the other allele, as seen in our patient (Figure 1(b)).
Friedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases
"Transplantation of wildtype mouse HSPCs essentially rescued FA-impacted cells," said Stephanie Cherqui, "Frataxin expression was restored.
Transplanted Hematopoietic Stem Cells Reverse Damage From Friedreich's Ataxia
Lutz et al., "Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes," Human Molecular Genetics, vol.
Oxidative Stress in Neurodegenerative Diseases: From Molecular Mechanisms to Clinical Applications
Cases were examined in terms of the existence of a frataxin mutation for FA, the existence of ataxin 1, ataxin 2, and ataxin 3, and voltage-dependent P/Q type calcium channel alpha 1a subunit (CACNAIA) gene mutations for SCA types 1,2, 3, and 6.
Determination of genotypic and phenotypic characteristics of Friedreich's ataxia and autosomal dominant spinocerebellar ataxia types 1,2, 3, and 6
Friedreich's ataxia (FRDA), an inherited, progressive neurodegenerative disease, is caused by a reduced expression of the mitochondrial iron-binding protein, frataxin. 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
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
Similarly, overexpression of frataxin, a protein associated with Friedreich ataxia, stimulated oxidative metabolism and elevated mitochondrial membrane potential and ATP content in several colon cancer cell lines [138].
Targeting mitochondria as therapeutic strategy for metabolic disorders
DNA methylation and histone modifications representative of silent chromatin have been observed around the expanded GAA-repeat in intron 1 of the Frataxin gene that causes Friedreich's ataxia [9].
Transcriptionally repressive chromatin remodelling and CpG methylation in the presence of expanded CTG-repeats at the DM1 locus
Friedreich's Ataxia (FA) is a progressive, multisystem, degenerative disorder caused by a reduction in frataxin. FA is primarily associated with DNA Triplet Repeat Expansion (TRE) in gene.
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." (1) Researchers postulated that cancer cells exhibit multiple alterations in mitochondrial content, structure, function, and activity.
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

Medical browser ?
Full browser ?