GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology. - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q33743762

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Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models Modeling neurological disorders by human induced pluripotent stem cells The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals Oral administration of the pimelic diphenylamide HDAC inhibitor HDACi 4b is unsuitable for chronic inhibition of HDAC activity in the CNS in vivo Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.Analysis of 17,576 potentially functional SNPs in three case-control studies of myocardial infarction.Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia.Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism Loss of serum IGF-I input to the brain as an early biomarker of disease onset in Alzheimer mice.MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.Friedreich's ataxia: the vicious circle hypothesis revisited.Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.Intracellular iron transport and storage: from molecular mechanisms to health implications.Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia.Estrogen prevents oxidative damage to the mitochondria in Friedreich's ataxia skin fibroblasts Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration.Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia.Small molecules affecting transcription in Friedreich ataxia Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.Stem cells from wildtype and Friedreich's ataxia mice present similar neuroprotective properties in dorsal root ganglia cells.Estrogen protection in Friedreich's ataxia skin fibroblasts.Oligodendroglial differentiation induces mitochondrial genes and inhibition of mitochondrial function represses oligodendroglial differentiation.Rescue of the Friedreich ataxia knockout mutation in transgenic mice containing an FXN-EGFP genomic reporter.A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia Mesenchymal stem cells improve motor functions and decrease neurodegeneration in ataxic mice.Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.Ultra-structural hair alterations in Friedreich's ataxia: A scanning electron microscopic investigation.TORC1 Inhibition by Rapamycin Promotes Antioxidant Defences in a Drosophila Model of Friedreich's Ataxia HSC20 interacts with frataxin and is involved in iron-sulfur cluster biogenesis and iron homeostasis.Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model.

P2860

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P2860

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

http://www.wikidata.org/entity/Q33743762

description

2006 nî lūn-bûn

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2006 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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2006 թվականի օգոստոսին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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GAA repeat expansion mutation ...... euronal and cardiac pathology.

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GAA repeat expansion mutation ...... euronal and cardiac pathology.

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GAA repeat expansion mutation ...... euronal and cardiac pathology.

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GAA repeat expansion mutation ...... euronal and cardiac pathology.

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GAA repeat expansion mutation ...... euronal and cardiac pathology.

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GAA repeat expansion mutation ...... euronal and cardiac pathology.

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J.YGENO.2006.06.015

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GAA repeat expansion mutation ...... euronal and cardiac pathology.

@en

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Dhaval Varshney

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J Mark Cooper

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Julian Blake

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Lorraine Lawrence

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Margaret B Lowrie

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Mark A Pook

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Ricardo Mouro Pinto

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Rosalind King

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Sahar Al-Mahdawi

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Sian Hughes

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P2860

Frataxin interacts functionally with mitochondrial electron transport chain proteins

Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis

The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure

Cleavage of structural proteins during the assembly of the head of bacteriophage T4

Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity.

An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1.

Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity.

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

Clinical and genetic abnormalities in patients with Friedreich's ataxia

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