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FXN gene
Known as:
X25
, FRDA GENE
, FARR
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National Institutes of Health
Create Alert
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Related topics
Related topics
5 relations
FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA WITH RETAINED REFLEXES
FXN protein, human
Friedreich Ataxia
Broader (1)
Genes
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2011
Review
2011
Choosing between glycolysis and oxidative phosphorylation: a tumor's dilemma?
C. Jose
,
N. Bellance
,
R. Rossignol
Biochimica et Biophysica Acta
2011
Corpus ID: 38753034
Highly Cited
2004
Highly Cited
2004
Frataxin Acts as an Iron Chaperone Protein to Modulate Mitochondrial Aconitase Activity
A. Bulteau
,
H. O'Neill
,
M. Kennedy
,
M. Ikeda-Saito
,
G. Isaya
,
L. Szweda
Science
2004
Corpus ID: 27699073
Numerous degenerative disorders are associated with elevated levels of prooxidants and declines in mitochondrial aconitase…
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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
H. Puccio
,
D. Simon
,
+7 authors
M. Koenig
Nature Genetics
2001
Corpus ID: 34639392
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is characterized by degeneration of the large sensory…
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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…
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Highly Cited
1999
Highly Cited
1999
Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
M. Cossée
,
A. Dürr
,
+20 authors
M. Pandolfo
Annals of Neurology
1999
Corpus ID: 24885238
Friedreich's ataxia is the most common inherited ataxia. Ninety‐six percent of patients are homozygous for GAA trinucleotide…
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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.
S. Bidichandani
,
T. Ashizawa
,
P. Patel
American Journal of Human Genetics
1998
Corpus ID: 36607603
Friedreich ataxia (FRDA), an autosomal recessive, neurodegenerative disease is the most common inherited ataxia. The vast…
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Highly Cited
1997
Highly Cited
1997
Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia
A. Rötig
,
P. Lonlay
,
+5 authors
P. Rustin
Nature Genetics
1997
Corpus ID: 23151137
Friedreich ataxia (FRDA) is a common autosomal recessive degenerative disease (1/50,000 live births) characterized by a…
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Highly Cited
1997
Highly Cited
1997
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin.
M. Babcock
,
D. D. de Silva
,
+5 authors
J. Kaplan
Science
1997
Corpus ID: 43265999
The gene responsible for Friedreich's ataxia, a disease characterized by neurodegeneration and cardiomyopathy, has recently been…
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Highly Cited
1997
Highly Cited
1997
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
V. Campuzano
,
L. Montermini
,
+13 authors
M. Koenig
Human Molecular Genetics
1997
Corpus ID: 17628027
Friedreich ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the frataxin gene. In order…
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Highly Cited
1996
Highly Cited
1996
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
V. Campuzano
,
L. Montermini
,
+24 authors
M. Pandolfo
Science
1996
Corpus ID: 20303793
Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous…
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