FXN gene

Known as: X25, FRDA GENE, FARR 
 
National Institutes of Health

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FRIEDREICH ATAXIA 1FRIEDREICH ATAXIA WITH RETAINED REFLEXESFXN protein, humanFriedreich Ataxia

Broader (1)

Genes

Papers overview

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2012
2012
FXN methylation predicts expression and clinical outcome in Friedreich ataxia.
OBJECTIVE Friedreich ataxia (FA) is the most common ataxia and results from an expanded GAA repeat in the first intron of FXN… (More)
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Highly Cited
2007
Highly Cited
2007
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia
Friedreich ataxia (FRDA), the most common hereditary ataxia, is caused by mutations in the frataxin (FXN) gene. The vast majority… (More)
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Review
2004
Review
2004
Trinucleotide repeats and neurodegenerative disease.
Major insights have been attained into the molecular pathology of the trinucleotide repeat neurodegenerative diseases over the… (More)
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Highly Cited
2002
Highly Cited
2002
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia.
BACKGROUND Friedreich's ataxia encodes a protein of unknown function, frataxin. The loss of frataxin is caused by a large GAA… (More)
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Highly Cited
2001
Highly Cited
2001
Disabled early recruitment of antioxidant defenses in Friedreich's ataxia.
Friedreich's ataxia (FRDA) results from a generalized deficiency of mitochondrial iron-sulfur protein activity ascribed to… (More)
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Highly Cited
1999
Highly Cited
1999
Tandem repeats finder: a program to analyze DNA sequences.
A tandem repeat in DNA is two or more contiguous, approximate copies of a pattern of nucleotides. Tandem repeats have been shown… (More)
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Highly Cited
1999
Highly Cited
1999
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study
BACKGROUND Friedreich's ataxia is caused by a deficiency of frataxin, a protein involved in regulation of mitochondrial iron… (More)
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Review
1998
Review
1998
Mitochondrial dysfunction in neurodegenerative diseases.
A potential pivotal role for mitochondrial dysfunction in neurodegenerative diseases is gaining increasing acceptance… (More)
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Highly Cited
1997
Highly Cited
1997
Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia
Friedreich ataxia (FRDA) is a common autosomal recessive degenerative disease (1/50,000 live births) characterized by a… (More)
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Highly Cited
1996
Highly Cited
1996
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous… (More)
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