|
Friedreich Ataxia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Manganese is the link between frataxin and iron-sulfur deficiency in the yeast model of Friedreich ataxia.
|
16510442 |
2006 |
|
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, which induces epigenetic changes and FXN gene silencing.
|
24023969 |
2013 |
|
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Expansion of GAA repeats in the intron of the frataxin gene is involved in the autosomal recessive Friedreich's ataxia (FRDA).
|
12354077 |
2002 |
|
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Friedreich ataxia (FRDA) is associated with a GAA-trinucleotide-repeat expansion in the first intron of the FXN gene (9q13-21), which encodes a 210-amino-acid protein named frataxin.
|
17703324 |
2007 |
|
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The DNA abnormality found in 98% of Friedreich's ataxia (FRDA) patients is the unstable hyperexpansion of a GAA.TTC triplet repeat in the first intron of the frataxin gene.
|
16857735 |
2006 |
|
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
(2009) The pathogenesis of Friedreich ataxia and the structure and function of frataxin.J.Neurol., 256 (Suppl.1), 9-17; Gottesfeld, J.M.
|
20413654 |
2010 |
|
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Friedreich's ataxia (FRDA) is a common hereditary degenerative neuro-muscular disorder caused by expansions of the (GAA)n repeat in the first intron of the frataxin gene.
|
22262734 |
2012 |
|
Friedreich Ataxia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Studies with model compounds show that these histone deacetylase inhibitors increase FXN messenger RNA levels in the brain in mouse models for Friedreich ataxia and relieve neurological symptoms observed in mouse models and support the notion that this class of molecules may serve as therapeutics for the human disease.
|
22764181 |
2012 |
|
Friedreich Ataxia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Friedreich Ataxia is an inherited disorder caused by decreased expression of a mitochondrial protein called frataxin.
|
17075779 |
2006 |
|
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Friedreich's ataxia (FRDA) is the common cause of ataxia often associated with the expansion of a GAA repeat in intron 1 of the frataxin gene (FXN).
|
24011957 |
2014 |
|
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.
|
9339708 |
1997 |
|
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) is the most common form of autosomal recessive ataxia caused by a deficit in the mitochondrial protein frataxin.
|
20460268 |
2010 |
|
Friedreich Ataxia
|
0.900 |
Biomarker
|
disease |
BEFREE |
When a diagnosis of Friedreich's ataxia is considered patients should have frataxin analysis in addition.
|
9527151 |
1998 |
|
Friedreich Ataxia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Dorsal root ganglia, dorsal roots (DR), and dorsal root entry zones (DREZ) are vulnerable to frataxin deficiency in Friedreich ataxia (FA).
|
29044418 |
2017 |
|
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
It proved useful for confirming the presence of large expansions in the Friedreich ataxia gene following an ambiguous result of long-range PCR, as well as rapid pre-screening for large repeat expansions associated with Friedreich ataxia and SCA10 and the shorter repeat expansions associated with SCA12.
|
15096564 |
2004 |
|
Friedreich Ataxia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Patients suffering from the progressive neurodegenerative disease Friedreich's ataxia have reduced expression levels of the protein frataxin.
|
29200434 |
2017 |
|
Friedreich Ataxia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts.
|
27518705 |
2016 |
|
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.
|
10732799 |
1998 |
|
Friedreich Ataxia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Towards a structural understanding of Friedreich's ataxia: the solution structure of frataxin.
|
10903947 |
2000 |
|
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We describe for the first time the creation of clonal stem cells carrying a human bacterial artificial chromosome (BAC) containing the Friedreich ataxia locus with an enhanced green fluorescent protein (EGFP) reporter gene fused to exon 5a of the frataxin (FXN) gene.
|
19177134 |
2009 |
|
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In both these disorders, the mitochondrial abnormality is secondary to the primary nuclear mutation:CAG repeat in the huntingtin gene in HD, and GAA repeat in the frataxin gene in FA.
|
9714816 |
1998 |
|
Friedreich Ataxia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene.
|
10347715 |
1999 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
What are the structural implications for iron binding by frataxin, the mitochondrial protein whose decreased expression results in Friedreich's ataxia?
|
20141512 |
2010 |