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Physiological, biochemical and biophysical studies show some differences in the expression pattern, protection against oxidants and in the aggregation state of both isoforms, suggesting that the two frataxin homologs would play similar but not identical roles in plant cell metabolism.
we report that frataxin overexpression is sufficient to increase oxidative phosphorylation, modify mitochondrial morphology, alter iron homeostasis and trigger oxidative stress-dependent cell death.
The authors show that loss of frataxin homolog (fh) in Drosophila leads to iron toxicity, which in turn induces sphingolipid synthesis and ectopically activates 3-phosphoinositide dependent protein kinase-1 (Pdk1) and myocyte enhancer factor-2 (Mef2).
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.
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) of 0.096 min (-1)
the levels of frataxin must be tightly regulated and fine-tuned, with any imbalance leading to oxidative stress and toxicity.
Knockdown of frataxin by > 70% in human hepatoma HepG2 cells caused a 20% reduction in secreted ApoA-I
In this study, the authors demonstrate that frataxin regulates the expression of genes involved in interferon induced apoptosis, DNA damage and blood clotting regulation.
the effect of alterations in loop-1, a stretch presumably essential for FXN function, on the conformational stability and dynamics of the native state.
differentiation of these induced pluripotent stem cells into neurons also results in resilencing of the FXN gene.
The NFS1/ISD11 complex further interacts with scaffold protein ISCU and regulator protein frataxin, thereby forming a quaternary complex for Fe-S cluster formation.
Molecular dynamics flexible fitting of protein structures docked into the EM map of the model revealed a [FXN(42-210)]24.[NFS1]24.[ISD11]24.[ISCU]24 complex, consistent with the measured 1:1:1:1 stoichiometry of its four components.
By interphase, FISH we found that in comparison to the normal Frataxin sequence the replication of expanded alleles is slowed or delayed. According to molecular combing, origins never fired within the normal Frataxin allele.
The differentially expressed FXN regulates the development of congenital heart disease (CHD) and the differential expression was under the control of miRNA-145. These results might provide new insight into the understanding of CHD pathogenesis and may facilitate further therapeutic studies.
Results presented here shed light on the folding mechanism of frataxin, opening the possibility of mutating it to generate hyperstable variants without altering their folding kinetics.
relative FXN expression in the patients was found to be correlated with the levels of MDA and ferritin but not correlated with transferrin saturation
Frataxin (FXN) gene mutations lead to mitochondrial iron accumulation without total body/organ iron overload. The clinical consequences are spinocerebellar degeneration and frequent cardiomyopathy.
Our results imply that regulation of FXN protein levels is complex and that total amounts can be modulated chemically and genetically without altering the absolute amount of mature FXN protein.
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 inhibitors emerge as a new class of drugs able to promote frataxin accumulation, suggesting their possible use as therapeutics in Friedreich's Ataxia
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 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.
This study demonstrated that mouse model of Friedreich's ataxia showed that decreased grip strength endurance time , threshold of peripheral sensitivity using Von Frey monofilaments and gait parameters.
Here, the authors show that loss of Fxn in the nervous system in mice also activates an iron/sphingolipid/PDK1/Mef2 pathway, indicating that the mechanism is evolutionarily conserved.
The in vitro antioxidant treatments trigger the axonal re-growth and the increase in stable MTs in shFxn, thus contributing to identify new neuronal targets of oxidation in this disease and providing a novel approach for antioxidant therapies.
Retinal FXN levels are increased in response to ischemia. Furthermore, elevated FXN levels had a clear neuroprotective effect as shown by increased ganglion cell survival after acute retinal ischemia/reperfusion. Frataxin's neuroprotective effect was associated with an upregulation of antioxidative enzymes.
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, a key regulator of cellular iron metabolism, we show that IRP1 activation in conditions of Fe-S deficiency increases the available cytosolic labile iron pool
The Fxn KO/Mck 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 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 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 deacetylase.
dual, pro-proliferative but chemosensitizing role in astrocytic tumors
Distribution of frataxin in eye retina of normal mice and of transgenic R7E mice with retinal degeneration
As an attempt to generate a mouse model of Friedreich ataxia, we introduced a (GAA)(230) repeat within the mouse frataxin gene by homologous recombination.
studies indicate an association between frataxin deficiency, iron deposits and cardiac fibrosis, but no obvious association between iron accumulation and neurodegeneration similar to Friedreich ataxia could be detected
frataxin has a role in cellular growth arrest and apoptosis, and its absence can cause experimental diabetes
We have generated two mouse models for FRDA that specifically develop progressive mixed cerebellar and sensory ataxia, the most prominent neurological features of Friedreich ataxia with a slowly progressive neurological degeneration
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