Multicellular models of Friedreich ataxia.

Towards a unifying, systems biology understanding of large-scale cellular death and destruction caused by poorly liganded iron: Parkinson's, Huntington's, Alzheimer's, prions, bactericides, chemical toxicology and others as examples. Arch Toxicol (2010) 2.36

Iron-binding activity in yeast frataxin entails a trade off with stability in the alpha1/beta1 acidic ridge region. Biochem J (2010) 1.66

Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex. PLoS One (2011) 1.56

Mechanisms of mammalian iron homeostasis. Biochemistry (2012) 1.51

Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities. Antioxid Redox Signal (2010) 1.27

PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia. PLoS One (2010) 1.11

The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia. PLoS One (2009) 1.02

Current and emerging treatment options in the management of Friedreich ataxia. Neuropsychiatr Dis Treat (2010) 0.89

Past, present and future therapeutics for cerebellar ataxias. Curr Neuropharmacol (2010) 0.88

Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models. PLoS One (2014) 0.87

Multi-step usage of in vivo models during rational drug design and discovery. Int J Mol Sci (2011) 0.87

Research on plants for the understanding of diseases of nuclear and mitochondrial origin. J Biomed Biotechnol (2012) 0.75

Drosophila melanogaster Models of Metal-Related Human Diseases and Metal Toxicity. Int J Mol Sci (2017) 0.75

The mitochondrial permeability transition in cell death: a common mechanism in necrosis, apoptosis and autophagy. Biochim Biophys Acta (1998) 4.50

Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat Chem Biol (2006) 4.25

Relationship between mitochondrial electron transport chain dysfunction, development, and life extension in Caenorhabditis elegans. PLoS Biol (2007) 3.61

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet (2001) 3.10

Lipofuscin: mechanisms of age-related accumulation and influence on cell function. Free Radic Biol Med (2002) 3.09

The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins. Hum Mol Genet (2002) 2.32

Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity. Science (2004) 2.29

Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria. FEBS Lett (1997) 2.24

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum Mol Genet (2007) 2.22

HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. PLoS One (2008) 2.08

Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant. FASEB J (2005) 1.97

The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. Hum Mol Genet (1999) 1.75

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology. Genomics (2006) 1.70

Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity. Hum Mol Genet (2005) 1.69

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. Hum Mol Genet (2000) 1.66

Drug Insight: antioxidant therapy in inherited ataxias. Nat Clin Pract Neurol (2008) 1.50

Friedreich ataxia: the oxidative stress paradox. Hum Mol Genet (2004) 1.49

Frataxin knockin mouse. FEBS Lett (2002) 1.47

Disabled early recruitment of antioxidant defenses in Friedreich's ataxia. Hum Mol Genet (2001) 1.41

Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass. J Clin Invest (2003) 1.37

Therapeutics development for triplet repeat expansion diseases. Nat Rev Genet (2005) 1.34

RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila. Hum Mol Genet (2005) 1.34

Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia. J Neurosci (2004) 1.32

The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases. Can J Neurol Sci (1980) 1.28

Iron and iron-responsive proteins in the cardiomyopathy of Friedreich's ataxia. Cerebellum (2006) 1.28

GAA repeat instability in Friedreich ataxia YAC transgenic mice. Genomics (2004) 1.26

Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues. Hum Mol Genet (2007) 1.23

Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia. Proc Natl Acad Sci U S A (2008) 1.22

Causative role of oxidative stress in a Drosophila model of Friedreich ataxia. FASEB J (2006) 1.18

Friedreich ataxia: a paradigm for mitochondrial diseases. Curr Opin Genet Dev (2002) 1.15

Glucose metabolism alterations in Friedreich's ataxia. Neurology (1988) 1.15

Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. Genomics (2007) 1.13

Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia. Hum Mol Genet (2004) 1.13

A non-essential function for yeast frataxin in iron-sulfur cluster assembly. Hum Mol Genet (2002) 1.08

Reduced expression of frataxin extends the lifespan of Caenorhabditis elegans. Aging Cell (2005) 1.01

Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis. Neurogenetics (2001) 1.00

Impaired respiration is positively correlated with decreased life span in Caenorhabditis elegans models of Friedreich Ataxia. FASEB J (2007) 0.96

Breaking the silence in Friedreich's ataxia. Nat Chem Biol (2006) 0.92

Friedreich's ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient. Acta Neuropathol (1997) 0.91

Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm. Hum Mol Genet (2001) 0.86

Ultrastructural observations on spinal ganglion biopsy in Friedreich's ataxia: a preliminary report. Can J Neurol Sci (1982) 0.83