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Helene Puccio
JOURNAL OF NEUROLOGY (2009)
The pathogenesis of Friedreich ataxia and the structure and function of frataxin
Massimo Pandolfo et al.
JOURNAL OF NEUROLOGY (2009)
Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS
Salvatore Adinolfi et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2009)
Impaired Nuclear Nrf2 Translocation Undermines the Oxidative Stress Response in Friedreich Ataxia
Vincent Paupe et al.
PLOS ONE (2009)
The effects of frataxin silencing in HeLa cells are rescued by the expression of human mitochondrial ferritin
Isabella Zanella et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2008)
Dynamics, stability and iron-binding activity of frataxin clinical mutants
Ana R. Correia et al.
FEBS JOURNAL (2008)
Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia
Peter R. Anderson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Frataxin gene point mutations in Italian Friedreich ataxia patients
Cinzia Gellera et al.
NEUROGENETICS (2007)
An iron-sulfur domain of the eukaryotic primase is essential for RNA primer synthesis
Sebastian Klinge et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2007)
Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up
Pascale Ribai et al.
ARCHIVES OF NEUROLOGY (2007)
Causative role of oxidative stress in a Drosophila model of Friedreich ataxia
Jose V. Llorens et al.
FASEB JOURNAL (2007)
Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts
Chunye Lu et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2007)
Deficiency of Arabidopsis thaliana frataxin alters activity of mitochondrial Fe-S proteins and induces oxidative stress
Maria V. Busi et al.
PLANT JOURNAL (2006)
Long-lived C-elegans mitochondrial mutants as a model for human mitochondrial-associated diseases
Natascia Ventura et al.
EXPERIMENTAL GERONTOLOGY (2006)
Conformational stability of human frataxin and effect of Friedreich's ataxia-related mutations on protein folding
Ana R. Correia et al.
BIOCHEMICAL JOURNAL (2006)
The essential vertebrate ABCE1 protein interacts with eukaryotic initiation factors
ZQ Chen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells
RA Schoenfeld et al.
HUMAN MOLECULAR GENETICS (2005)
RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila
PR Anderson et al.
HUMAN MOLECULAR GENETICS (2005)
Increased IRP1 activity in Friedreich ataxia
L Lobmayr et al.
GENE (2005)
Friedreich's ataxia, no changes in mitochondrial labile iron in human lymphoblasts and fibroblasts - A decrease in antioxidative capacity?
B Sturm et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Friedreich ataxia: the oxidative stress paradox
H Seznec et al.
HUMAN MOLECULAR GENETICS (2005)
Human DNA glycosylases involved in the repair of oxidatively damaged DNA
H Ide et al.
BIOLOGICAL & PHARMACEUTICAL BULLETIN (2004)
Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia
D Simon et al.
JOURNAL OF NEUROSCIENCE (2004)
Iron-sulfur protein maturation in human cells:: evidence for a function of frataxin
O Stehling et al.
HUMAN MOLECULAR GENETICS (2004)
Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice
JP Sarsero et al.
MAMMALIAN GENOME (2004)
Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells
GL Tan et al.
HUMAN MOLECULAR GENETICS (2003)
DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing
A Saveliev et al.
NATURE (2003)
A cellular model for Friedreich Ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategy
ML Jauslin et al.
HUMAN MOLECULAR GENETICS (2002)
Intrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene
DJH McCabe et al.
ARCHIVES OF NEUROLOGY (2002)
Frataxin expression rescues mitochondrial dysfunctions in FRDA cells
G Tan et al.
HUMAN MOLECULAR GENETICS (2001)
Disabled early recruitment of antioxidant defenses in Friedreich's ataxia
K Chantrel-Groussard et al.
HUMAN MOLECULAR GENETICS (2001)
Sticky DNA, a self-associated complex formed at long GAA•TTC repeats in intron 1 of the frataxin gene, inhibits transcriptions
N Sakamoto et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
H Puccio et al.
NATURE GENETICS (2001)
Crystal structure of human frataxin
S Dhe-Paganon et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Analysis of gene-specific DNA damage and repair using quantitative polymerase chain reaction
S Ayala-Torres et al.
METHODS (2000)
Towards a structural understanding of Friedreich's ataxia: the solution structure of frataxin
G Musco et al.
STRUCTURE (2000)
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
M Cossée et al.
HUMAN MOLECULAR GENETICS (2000)
Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia
JL Bradley et al.
HUMAN MOLECULAR GENETICS (2000)
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