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FXN gene

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

Related topics

Related topics

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

Broader (1)

Genes

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2004
Highly Cited
2004
Frataxin Acts as an Iron Chaperone Protein to Modulate Mitochondrial Aconitase Activity
Numerous degenerative disorders are associated with elevated levels of prooxidants and declines in mitochondrial aconitase… Expand
Highly Cited
2001
Highly Cited
2001
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is characterized by degeneration of the large sensory… Expand
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Highly Cited
1999
Highly Cited
1999
Tandem repeats finder: a program to analyze DNA sequences.
  • G. Benson
  • Nucleic acids research
  • 1999
    • Corpus ID: 6282036
A tandem repeat in DNA is two or more contiguous, approximate copies of a pattern of nucleotides. Tandem repeats have been shown… Expand
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Highly Cited
1999
Highly Cited
1999
Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
Friedreich's ataxia is the most common inherited ataxia. Ninety‐six percent of patients are homozygous for GAA trinucleotide… Expand
Review
1998
Review
1998
Mitochondrial dysfunction in neurodegenerative diseases.
  • M. Beal
  • Biochimica et biophysica acta
  • 1998
    • Corpus ID: 54526400
A potential pivotal role for mitochondrial dysfunction in neurodegenerative diseases is gaining increasing acceptance… Expand
Highly Cited
1998
Highly Cited
1998
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure.
Friedreich ataxia (FRDA), an autosomal recessive, neurodegenerative disease is the most common inherited ataxia. The vast… Expand
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… Expand
Highly Cited
1997
Highly Cited
1997
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin.
The gene responsible for Friedreich's ataxia, a disease characterized by neurodegeneration and cardiomyopathy, has recently been… Expand
Highly Cited
1997
Highly Cited
1997
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
Friedreich ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the frataxin gene. In order… Expand
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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… Expand
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