Friedreich Ataxia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Friedreich's Ataxia (FA) is an inherited disease causing degeneration of the nervous system.
|
31693434 |
2020 |
Friedreich Ataxia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Heart disease is an integral part of Friedreich ataxia (FA).
|
31166002 |
2020 |
Friedreich Ataxia
|
0.900 |
Biomarker
|
disease |
BEFREE |
This meta-analysis provides a quantitative review and reappraisal of MRS findings in spinocerebellar ataxias (SCA) and Friedreich ataxia (FA) available to date.
|
31838195 |
2020 |
Friedreich Ataxia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Friedreich ataxia (FA) is currently an incurable inherited mitochondrial neurodegenerative disease caused by reduced levels of frataxin.
|
30544254 |
2019 |
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Friedreich ataxia (FRDA) is an autosomal recessive disorder due to mutations in the FXN gene.
|
29938355 |
2019 |
Friedreich Ataxia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Although ataxia can be a symptom of many common conditions, the focus here is on the progressive ataxias, and include hereditary ataxia (e.g. spinocerebellar ataxia (SCA), Friedreich's ataxia (FRDA)), idiopathic sporadic cerebellar ataxia, and specific neurodegenerative disorders in which ataxia is the dominant symptom (e.g. cerebellar variant of multiple systems atrophy (MSA-C)).
|
30786918 |
2019 |
Friedreich Ataxia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Here we demonstrate that DMF significantly increases frataxin gene (FXN) expression in FA cell model, FA mouse model and in DMF treated humans.
|
31158268 |
2019 |
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Imbalance of iron homeostasis occurs in several cardiac diseases, including iron-overload cardiomyopathies such as Friedreich's ataxia (FRDA, OMIM no.
|
31049138 |
2019 |
Friedreich Ataxia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Friedreich's ataxia (FRDA), a progressive neurodegenerative disorder caused by trinucleotide (GAA) repeat expansion in frataxin (fxn) gene which results in decreased levels of frataxin protein.
|
30874991 |
2019 |
Friedreich Ataxia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Here, we show that etravirine can promote a significant increase in frataxin levels in cells derived from Friedreich's ataxia patients, by enhancing frataxin messenger RNA translation.
|
30624801 |
2019 |
Friedreich Ataxia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
In addition, gene expression in frataxin-deficient neuroglial cells and FA mouse hearts were compared for a total of 5 data sets.
|
31665133 |
2019 |
Friedreich Ataxia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Friedreich's ataxia (FRDA) is a progressive disease affecting multiple organs that is caused by systemic insufficiency of the mitochondrial protein frataxin.
|
30905359 |
2019 |
Friedreich Ataxia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by transcriptional silencing of the frataxin (<i>FXN</i>) gene, resulting in loss of the essential mitochondrial protein frataxin.
|
30552117 |
2019 |
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Deficiency in FXN leads to the loss-of-function neurodegenerative disorder Friedreich's ataxia (FRDA).
|
31101807 |
2019 |
Friedreich Ataxia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models.
|
30590615 |
2019 |
Friedreich Ataxia
|
0.900 |
Biomarker
|
disease |
BEFREE |
<b>Introduction</b>: Friedreich ataxia (FRDA), a rare disease caused by the deficiency of the mitochondrial matrix protein frataxin, affects roughly 1 in 50,000 individuals worldwide.
|
31311349 |
2019 |
Friedreich Ataxia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Friedreich's ataxia (FRDA) is a devastating and currently incurable disease caused by insufficient expression of the enzyme frataxin (FXN).
|
31151992 |
2019 |
Friedreich Ataxia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Deficient expression of the mitochondrial protein, frataxin, is the primary cause of FA, which leads to adverse alterations in whole cell and mitochondrial iron metabolism.
|
28782591 |
2018 |
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Friedreich's ataxia (FRDA; OMIM 229300), an autosomal recessive neurodegenerative mitochondrial disease, is the most prevalent hereditary ataxia.
|
29509186 |
2018 |
Friedreich Ataxia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Frataxin-deficient neonatal rat cardiomyocytes and dorsal root ganglia neurons have been used as cell models of Friedreich ataxia.
|
29223733 |
2018 |
Friedreich Ataxia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Friedreich's ataxia (FRDA) is an incurable neurodegenerative disorder caused by reduced expression of the mitochondrial protein frataxin (FXN).
|
30076049 |
2018 |
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Friedreich ataxia (FRDA) is a multisystem genetic disorder caused by GAA repeat expansion mutations within the FXN gene, resulting in heterochromatin formation and deficiency of frataxin protein.
|
30464193 |
2018 |
Friedreich Ataxia
|
0.900 |
Biomarker
|
disease |
CTD_human |
Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes.
|
30451920 |
2018 |
Friedreich Ataxia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model.
|
29794127 |
2018 |
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disease caused by mutations in the gene encoding for the mitochondrial protein frataxin, is characterized by ataxia and gait instability, immobility, and eventual death.
|
30294800 |
2018 |