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| 11679167 | FRDA | FRDA | 2.0 | in diseases related to oxidative stress such as ALS or FRDA (see see Sections 4.3 and 4.4 | |  |
| 11679167 | FRDA | FRDA | 2.0 | Friedreich's ataxia (FRDA) FRDA | | |
| 15896810 | FRDA | FRDA | 4.3 | neurodegenerative diseases including Parkinson's disease Alzheimer's disease Friedreich's ataxia (FRDA), FRDA multiple sclerosis and amyotrophic lateral sclerosis may involve the generation | | |
| 15896810 | FRDA | FRDA | 4.3 | The precise sequence of events in FRDA pathogenesis is uncertain | | |
| 15896810 | FRDA | FRDA | 4.3 | addition that decreased expression of frataxin protein is associated with FRDA | | |
| 15896810 | FRDA | FRDA | 4.3 | Many approaches have been undertaken to understand FRDA but the heterogeneity of the etiologic factors makes it difficult | | |
| 15896810 | FRDA | FRDA | 4.3 | and their interaction in a vicious cycle are central to FRDA pathogenesis | | |
| 15896810 | FRDA | FRDA | 4.3 | Brains of FRDA patients undergo many changes such as disruption of protein synthesis | | |
| 15896810 | FRDA | FRDA | 4.3 | ALS multiple sclerosis (MS), MS Huntington's disease (HD) HD and FRDA are all associated with the presence of abnormal proteins | | |
| 15896810 | FRDA | FRDA | 4.3 | neurodegenerative diseases including Alzheimer's and Parkinson's diseases ALS MS and FRDA | | |
| 15896810 | FRDA | FRDA | 4.3 | may play an essential role in neurodegenerative diseases such as FRDA 9 | | |
| 15896810 | FRDA | FRDA | 4.3 | The precise sequence of events in FRDA pathogenesis is uncertain | | |
| 15896810 | FRDA | FRDA | 4.3 | addition that decreased expression of frataxin protein is associated with FRDA 11 | | |
| 15896810 | FRDA | FRDA | 4.3 | the oxidative stress hypothesis which may underlie the pathogenesis of FRDA | | |
| 15896810 | FRDA | FRDA | 4.3 | FRDA is an autosomal recessive degenerative disorder characterized by progressive gait | | |
| 15896810 | FRDA | FRDA | 4.3 | Neuropathology in FRDA is characterized by early degeneration of large sensory neurons in | | |
| 15896810 | FRDA | FRDA | 4.3 | Hypertrophic cardiomyopathy is present in large proportion FRDA patients 12 and 13 | | |
| 15896810 | FRDA | FRDA | 4.3 | The causative mutation of FRDA is an abnormally expanded GAA triplet repeat in the first | | |
| 15896810 | FRDA | FRDA | 4.3 | expanded GAA triplet repeat in the first intron of the FRDA gene on chromosome 9q13 14 | | |
| 15896810 | FRDA | FRDA | 4.3 | Ninety-eight percent of FRDA patients are homozygous for the GAA expansion the remainder carrying | | |
| 15896810 | FRDA | FRDA | 4.3 | GAA expansion the remainder carrying a repeat expansion in one FRDA allele and a point mutation in the other 12 and | | |
| 15896810 | FRDA | FRDA | 4.3 | The size of the GAA expansion in FRDA patients ranges from about 100 repeats to 1700 12 and | | |
| 15896810 | FRDA | FRDA | 4.3 | The expression of a number of symptoms/signs symptoms signs in FRDA is dependent upon the length of the GAA repeat expansion | | |
| 15896810 | FRDA | FRDA | 4.3 | Mutations in the FRDA gene either GAA expansions or point mutations result in reduced | | |
| 15896810 | FRDA | FRDA | 4.3 | In normal subjects the highest level of expression of the FRDA gene has been found in the heart and spinal cord | | |
| 15896810 | FRDA | FRDA | 4.3 | The amount of residual frataxin in lymphoblastoid cell lines from FRDA patients correlates with the GAA expansion size in the smaller | | |
| 15896810 | FRDA | FRDA | 4.3 | been demonstrated in post-mortem cardiac muscle samples from patients with FRDA associated with reduced levels of mitochondrial DNA and with increased | | |
| 15896810 | FRDA | FRDA | 4.3 | protein manganese superoxide dismutase (MnSOD) MnSOD fails to occur in FRDA fibroblasts exposed to iron 25 | | |
| 15896810 | FRDA | FRDA | 4.3 | Cardiac and skeletal muscle bioenergetics was investigated directly in FRDA patients using in vivo 31 P-MRS 41 | | |
| 15896810 | FRDA | FRDA | 4.3 | Cardiac bioenergetics was assessed in vivo in FRDA patients with and without left ventricular hypertrophy 43 | | |
| 15896810 | FRDA | FRDA | 4.3 | Cardiac PCr to ATP ratios in the FRDA group as a whole were reduced by about 40% | | |
| 15896810 | FRDA | FRDA | 4.3 | were significantly reduced compared to controls in both groups of FRDA patients with normal and hypertrophic heart 43 | | |
| 15896810 | FRDA | FRDA | 4.3 | In FRDA the hypertrophic process may be compensatory and caused or contributed | | |
| 15896810 | FRDA | FRDA | 4.3 | have shown a reduced rate of mitochondrial ATP synthesis in FRDA patients 46 and 47 | | |
| 15896810 | FRDA | FRDA | 4.3 | Mitochondrial V max for ATP production in FRDA patients was also significantly lower than in a group of | | |
| 15896810 | FRDA | FRDA | 4.3 | se did not account for the reduced mitochondrial function in FRDA patients | | |
| 15896810 | FRDA | FRDA | 4.3 | utilization of oxygen in response to exercise showed in several FRDA patients features related to inadequate oxygen utilization by muscle 48 | | |
| 15896810 | FRDA | FRDA | 4.3 | glutathione bound to haemoglobin in erythrocytes have been demonstrated in FRDA patients 128 also associated with a significant elevation in the | | |
| 15896810 | FRDA | FRDA | 4.3 | Therapy advances in FRDA | | |
| 15896810 | FRDA | FRDA | 4.3 | The precise sequence of events in FRDA pathogenesis is uncertain | | |
| 15896810 | FRDA | FRDA | 4.3 | FRDA offers a unique opportunity to intervene with _amp_#x201c neuroprotective_amp_#x201d therapy | | |
| 15896810 | FRDA | FRDA | 4.3 | in the presence of advanced disease and established pathogenetic mechanisms FRDA patients can be diagnosed by genetic analysis either presymptomatically or | | |
| 15896810 | FRDA | FRDA | 4.3 | free radical production and deficit of oxidative phosphorylation shown in FRDA suggests that the mitochondrial respiration deficit may be amenable to | | |
| 15896810 | FRDA | FRDA | 4.3 | Three FRDA patients were treated for 4 to 9 months with idebenone | | |
| 15896810 | FRDA | FRDA | 4.3 | equal or more than 20% in 17 out of 38 FRDA patients 173 and by two more recent idebenone trials 174 | | |
| 15896810 | FRDA | FRDA | 4.3 | daily also resulted in decreased markers of oxidative stress in FRDA patients 176 | | |
| 15896810 | FRDA | FRDA | 4.3 | hypertrophy (LVH) LVH and ataxia has been evaluated in ten FRDA patients 177 After 6 months of therapy cardiac PCr to | | |
| 15896810 | FRDA | FRDA | 4.3 | FRDA patients assessed neurologically using the semi-quantitative International Cooperative Ataxia Rating | | |
| 15896810 | FRDA | FRDA | 4.3 | oxidative stress has been recently investigated in cultured fibroblasts from FRDA patients in which glutathione synthesis have been blocked | | |
| 15896810 | FRDA | FRDA | 4.3 | Targeted antioxidants may have therapeutic potential in FRDA and in other disorders involving mitochondrial oxidative damage | | |
| 15896810 | FRDA | FRDA | 4.3 | Given the physiopathological mechanisms responsible for FRDA selenium administration could represent another therapy strategy | | |
| 15896810 | FRDA | FRDA | 4.3 | address the toxicity of GPX mimetics in humans before human FRDA trials can be considered | | |
| 15896810 | FRDA | FRDA | 4.3 | screening of compounds that have potential in the treatment of FRDA 183 | | |
| 15896810 | FRDA | FRDA | 4.3 | Since the discovery of the genetic basis of FRDA only few years ago the progress made in our understanding | | |
| 15896810 | FRDA | FRDA | 4.3 | progress made in our understanding of the pathogenic mechanisms underlying FRDA has been remarkable | | |
| 15896810 | FRDA | FRDA | 4.3 | the precise function of frataxin still remains to be defined FRDA has clearly been identified as a nuclear encoded mitochondrial disorder | | |
| 15896810 | FRDA | FRDA | 4.3 | randomised trials which will confirm whether an early diagnosis of FRDA can be exploited to initiate antioxidant treatment and prevent the | | |
| 17191135 | FRDA | FRDA | 1.5 | amyotrophic lateral scelrosis (ALS) ALS and Friedreich_amp_#8217 s ataxia (FRDA) FRDA belong to the so-called _amp_#8220 protein conformational diseases_amp_#8221 4 | | |
| 10742195 | frataxin | frataxin | 1.0 | friedrich_amp_#x2019;s ataxia fa is a disease characterized by neurodegeneration and cardiomyopathy and is caused by a mutation of frataxin a mitochondrial protein involved in iron homeostasis and respiratory function. | | |
| 10742195 | frataxin | frataxin | 1.0 | frataxin has recently been shown to export non heme bound iron from the mitochondria hence the mutation appears to cause a loss of function that raises iron levels in the mitochondria [ 50 ]. | | |
| 11679167 | frataxin | frataxin | 1.0 | this disorder results from a deficiency in frataxin a nuclear encoded mitochondrial protein with no homology to proteins of known function. | | |
| 11679167 | frataxin | frataxin | 1.0 | studies on the yeast frataxin homologue yfh1p suggest that this protein is an iron binding protein that plays a key role in regulation of iron homeostasis and resistance to oxidative stress. | | |
| 11679167 | frataxin | frataxin | 1.0 | indeed yfh1p exhists as a monomer in the absence of iron but self aggregates in the presence of iron forming multimers able to sequester more than 16 iron atoms per frataxin molecule adamec et al. 2000 . | | |
| 11679167 | frataxin | frataxin | 1.0 | both frataxin and yfh1p are processed in the mitochondria to a mature form that is essential for the control of mitochondrial iron homeostasis knight et al. 1998 ; branda et al. 1999 ; cavadini et al. 2000 . | | |
| 11679167 | frataxin | frataxin | 1.0 | as the excess of iron is known to promote the formation of the highly reactive hydroxyl radicals the absence of an oxidative stress response may account for cellular dysfunction of frataxin deficient mutants. | | |
| 15031734 | frataxin | frataxin | 1.0 | we have proposed that the proteins implicated in several age dependent neurodegenerative disorders a beta in ad alpha synuclein in pd sod1 in als frataxin in friedreich's ataxia box 1 and alpha b crystallin in cataracts might abnormally present cu 2+ or fe 3+ ligands for inappropriate reaction with o 2 fig 1 . | | |
| 15031734 | frataxin | frataxin | 1.0 | beta actin catalase creatine kinase frataxin glucose transporter type 3 glutathione peroxidase glutathione reductase mitogen activated protein kinase 1 sod alpha synuclein xanthine dehydrogenase | | |
| 15480846 | friedreich ataxia | friedreich ataxia | 1.0 | iron has been shown to accumulates at site where neurons degenerate in neurodegenerative diseases of parkinson s disease alzheimer s disease huntington disease amyotrophic lateral sclerosis and friedreich ataxia. | | |
| 15896810 | frataxin | frataxin | 1.0 | recent evidence suggests that frataxin might detoxify ros via activation of glutathione peroxidase and elevation of thiols and in addition that decreased expression of frataxin protein is associated with frda. | | |
| 15896810 | frataxin | frataxin | 1.0 | there is now evidence to suggest that frataxin might detoxify ros via activation of glutathione peroxidase and elevation of thiols [10] and in addition that decreased expression of frataxin protein is associated with frda [11] . | | |
| 15896810 | friedreich ataxia | friedreich ataxia | 1.0 | clinical and genetic features of friedreich ataxia | | |
| 15896810 | friedreich ataxia | friedreich ataxia | 1.0 | friedreich ataxia is the commonest form of inherited ataxia with a frequency of 1 in 50 000 live births. | | |
| 15896810 | frataxin | frataxin | 1.0 | mutations in the frda gene either gaa expansions or point mutations result in reduced expression of a protein called frataxin [16] which has been shown to be localized to mitochondria [16] [17] and [18] . | | |
| 15896810 | frataxin | frataxin | 1.0 | the amount of residual frataxin in lymphoblastoid cell lines from frda patients correlates with the gaa expansion size in the smaller allele [16] and likely represents the molecular basis of the relationship between gaa expansion s | | |
| 15896810 | friedreich ataxia | friedreich ataxia | 1.0 | there is significant evidence that the pathogenesis of several neurodegenerative diseases including parkinson's disease alzheimer's disease friedreich ataxia multiple sclerosis and amyotrophic lateral sclerosis may involve the generation of reactive oxygen species ros reactive nitrogen species rns and mitochondrial dysfunction. | | |
| 15896810 | frataxin | frataxin | 1.0 | studies using the budding yeast saccharomyces cerevisiae have provided the first clues to understand the consequences of frataxin loss [17] [18] [19] [20] and [21] . | | |
| 15896810 | frataxin | frataxin | 1.0 | it has been shown that deletion of the yeast frataxin homolog yfh1 results in a 10 fold increase in iron within the mitochondria along with increased ros production [17] and [20] . | | |
| 15896810 | frataxin | frataxin | 1.0 | recent evidence suggests that frataxin might detoxify ros via activation of glutathione peroxidase and elevation of thiols [10] . | | |
| 15896810 | frataxin | frataxin | 1.0 | transgenic overexpression of human frataxin increases cellular antioxidant defense via activation of glutathione peroxidase and elevation of reduced thiols thereby reducing the incidence of malignant transformation induced by ros as observed b | | |
| 15896810 | frataxin | frataxin | 1.0 | there is evidence that frataxin acts as a chaperone for fe ii and a storage compartment for excess iron [27] [28] [29] [30] [31] [32] [33] [34] [35] [36] [37] and [38] . | | |
| 15896810 | frataxin | frataxin | 1.0 | this is consistent with the roles played by frataxin in iron export fe_amp_#x2013;s cluster assembly heme biosynthesis and prevention of oxidative stress. | | |
| 15896810 | frataxin | frataxin | 1.0 | also frataxin plays a direct role in the mitochondrial energy activation and oxidative phosphorylation [11] . | | |
| 15896810 | frataxin | frataxin | 1.0 | in mouse models deletion of the frataxin gene results in embryonic lethality [40] while its selective inactivation in neuronal and cardiac tissues leads to neurological symptoms and cardiomyopathy associated with mitochondrial iron_amp_#x20 | | |
| 15896810 | frataxin | frataxin | 1.0 | in contrast a model expressing 25_amp_#x2013;35% of wild type frataxin levels by virtue of a gaa 230 expansion inserted in the first intron of the mouse gene has no obvious phenotype [39] . | | |
| 15896810 | frataxin | frataxin | 1.0 | the length of the gaa expansion has been shown to determine the amount of frataxin expressed [16] . | | |
| 15896810 | frataxin | frataxin | 1.0 | therefore the residual expression of frataxin probably determines the reduced skeletal muscle mitochondrial atp production rate we detected in vivo. | | |
| 15896810 | friedreich ataxia | friedreich ataxia | 1.0 | there are evidences of an impairment in vivo of glutathione homeostasis and antioxidant enzymes in patients with friedreich ataxia suggesting a relevant role of free radical cytotoxicity in the pathophysiology of the disease. | | |
| 15896810 | friedreich ataxia | friedreich ataxia | 1.0 | in fact a reduction of free glutathione levels in the blood of patients with friedreich ataxia a total glutathione concentration comparable to the controls and a significant increase of glutathione bound to haemoglobin in erythrocytes have been demonstrated in frda patients [128] also associat | | |
| 15896810 | friedreich ataxia | friedreich ataxia | 1.0 | a deficiency of the micronutrient has also been reported in patients with friedreich ataxia and there are histological similarities between friedreich's cardiomyopathy and keshan disease. | | |
| 15896810 | friedreich ataxia | friedreich ataxia | 1.0 | as iron induced mitochondrial oxidative damage is central to the pathology of friedreich ataxia and in addition some studies suggest a link between frataxin expression glutathione peroxidase gpx activity and oxidative stress the administration of selenium supplements could normalize the antioxi | | |
| 15896810 | frataxin | frataxin | 1.0 | as iron induced mitochondrial oxidative damage is central to the pathology of friedreich ataxia and in addition some studies suggest a link between frataxin expression glutathione peroxidase gpx activity and oxidative stress the administration of selenium supplements could normalize the antioxidant activity of myocardial glutathione peroxidase and slow t | | |
| 15896810 | frataxin | frataxin | 1.0 | although the precise function of frataxin still remains to be defined frda has clearly been identified as a nuclear encoded mitochondrial disorder. | | |