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This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. Additionally we are shipping Frataxin Antibodies (138) and Frataxin Kits (8) and many more products for this protein.
Showing 10 out of 23 products:
Human Frataxin Protein expressed in Escherichia coli (E. coli) - ABIN667758
Campuzano, Montermini, Moltò, Pianese, Cossée, Cavalcanti, Monros, Rodius, Duclos, Monticelli, Zara, Cañizares, Koutnikova, Bidichandani, Gellera, Brice, Trouillas, De Michele, Filla, De Frutos et al.: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. ... in Science (New York, N.Y.) 1996
Show all 2 references for ABIN667758
Frataxin overexpression in the nervous system reduces life span, impairs locomotor ability and causes brain degeneration.
Strong involvement of glial cells and lipid peroxidation in the generation of Friedreich's ataxia (show USP14 Proteins).
Defects in axonal transport of mitochondria appear late in development in distal nerve of larvae showing reduced frataxin expression, with retrograde movement preferentially affected.
H2O2 is an important pathogenic substrate underlying the phenotypes arising from frataxin deficiency in Drosophila
This suggests that Drosophila frataxin may function to protect the mitochondria from oxidative stresses and the ensuing cellular damage.
Dfh-assisted assembly of Fe-S clusters occurs with an observed kinetic rate constant ( k obs (show LEP Proteins)) of 0.096 min (-1 (show CD59 Proteins))
In compound heterozygotes, expression of partially functional mutant frataxin delays age of onset and reduces diabetes mellitus, compared to those with no frataxin expression from the non-expanded allele.
FXN promoter function was directly measured via metabolic labeling of newly synthesized transcripts in fibroblasts, which revealed that the YG8sR mouse was significantly deficient in transcriptional initiation compared to the Y47R mouse.
Thus, Src (show SRC Proteins) inhibitors emerge as a new class of drugs able to promote frataxin accumulation, suggesting their possible use as therapeutics in Friedreich's Ataxia (show USP14 Proteins)
Engineered a cell line where the presence of an exogenous, inducible FXN gene rescues the cells from the knockout of the two endogenous FXN genes. This system allows the possibility of testing the progression of disease.
The region of chromosome 9 carrying the FXN gene is prone to chromosomal rearrangements in both control and Friedreich ataxia patient cells.
Expanded GAA (show GAA Proteins) repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells
Findings confirm a detrimental effect of frataxin silencing, not only for astrocytes, but also for neuron-glia interactions, underlining the need to take into account the role of non-cell autonomous processes in Friedreich's ataxia (show USP14 Proteins).
We propose a model of premature termination of FXN transcription induced by pathogenic expanded GAA (show GAA Proteins) repeats that links R-loop structures, antisense transcription, and heterochromatin formation
Patients with a FXN p.R165P missense mutation progress to a less disabling disease state than typical Friedreich ataxia patients
FXN accelerates a rate-limiting sulfur transfer step in the synthesis of [2Fe-2S] clusters on the human Fe-S assembly complex.
Frataxin Deficiency Promotes Excess Microglial DNA Damage and Inflammation that Is Rescued by PJ34
Frataxin-deficient mice, which had higher mitochondrial iron loading, showed impaired airway mucociliary clearance and higher pulmonary inflammation at baseline.
Using a mouse model of hepatic FXN deficiency in combination with mice deficient for IRP1 (show ACO1 Proteins), a key regulator of cellular iron metabolism, we show that IRP1 (show ACO1 Proteins) activation in conditions of Fe-S deficiency increases the available cytosolic labile iron pool
The Fxn KO/Mck (show CKM Proteins) mice tested from one to two months of age showed abnormal gait patterns accompanied by a loss in motor skills
Reduced expression of frataxin in Friedreich's ataxia (show USP14 Proteins) leads to elevation of COX2-mediated oxylipin synthesis stimulated by increases in transcription factors that respond to increased reactive oxygen species.
Frataxin-deficient cells showed a specific inhibition of mitochondrial Complex I activity already at 70% residual frataxin levels, whereas the glutathione imbalance progressively increased after silencing.
The results support a mechanistic hypothesis in which frataxin deficiency decreases Nrf2 expression in vivo, causing the sensitivity to oxidative stress in target tissues the DRG and the cerebella, which contributes to the process of neurodegeneration.
rescue of the Friedreich ataxia knockout mutation in transgenic mice containing an FXN-EGFP genomic reporter
these results indicate that IGF-I (show IGF1 Proteins) exerts cell-context neuroprotection in frataxin deficiency that maybe therapeutically effective.
Data show that the respiratory chain defects accompanying frataxin deficiency cause progressive hyperacetylation of cardiac mitochondrial proteins due to the inhibition of SIRT3 (show SIRT3 Proteins) deacetylase.
This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants.
, frataxin, mitochondrial
, frataxin homologue
, Friedreich ataxia protein
, Friedreich ataxia