Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
about
In vivo maturation of human frataxinA pool of extramitochondrial frataxin that promotes cell survivalCardiomyopathy in Friedreich ataxia: clinical findings and researchChronochemistry in neurodegenerationIron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster deliveryUnderstanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular modelsTherapeutic developments in Friedreich ataxiaNew perspectives on oxidized genome damage and repair inhibition by pro-oxidant metals in neurological diseasesAdvancing animal models of human type 1 diabetes by engraftment of functional human tissues in immunodeficient miceMitochondrial iron-sulfur cluster dysfunction in neurodegenerative diseaseExpanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cellsHDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse modelCrystal structure of human frataxinUnderstanding the binding properties of an unusual metal-binding protein--a study of bacterial frataxinTwo-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different ratesFriedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency.Overexpression of frataxin in the mitochondria increases resistance to oxidative stress and extends lifespan in DrosophilaThe Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammalsThe first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxiaProlonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse modelDyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.Autosomal recessive cerebellar ataxias.Friedreich's ataxia, no changes in mitochondrial labile iron in human lymphoblasts and fibroblasts: a decrease in antioxidative capacity?Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screenPGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia.GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brain.Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegenerationThe role of mitochondrial DNA copy number in mammalian fertility.Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol.Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.Intracellular iron transport and storage: from molecular mechanisms to health implications.Molecular basis of Friedreich ataxia.Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds.Friedreich ataxia: failure of GABA-ergic and glycinergic synaptic transmission in the dentate nucleus.Cardiomyopathy of Friedreich's ataxia: use of mouse models to understand human disease and guide therapeutic development.Frataxin participates to the hypoxia-induced response in tumorsThe Heart in Friedreich's Ataxia: Basic Findings and Clinical Implications.Molecular mechanisms and regulation of iron transport.
P2860
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P2860
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
description
2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մայիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2000
@ast
im Mai 2000 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2000/05/01)
@sk
vědecký článek publikovaný v roce 2000
@cs
wetenschappelijk artikel (gepubliceerd op 2000/05/01)
@nl
наукова стаття, опублікована в травні 2000
@uk
مقالة علمية (نشرت في مايو 2000)
@ar
name
Inactivation of the Friedreich ...... lity without iron accumulation
@ast
Inactivation of the Friedreich ...... lity without iron accumulation
@en
Inactivation of the Friedreich ...... lity without iron accumulation
@nl
type
label
Inactivation of the Friedreich ...... lity without iron accumulation
@ast
Inactivation of the Friedreich ...... lity without iron accumulation
@en
Inactivation of the Friedreich ...... lity without iron accumulation
@nl
prefLabel
Inactivation of the Friedreich ...... lity without iron accumulation
@ast
Inactivation of the Friedreich ...... lity without iron accumulation
@en
Inactivation of the Friedreich ...... lity without iron accumulation
@nl
P2093
P3181
P356
P1476
Inactivation of the Friedreich ...... lity without iron accumulation
@en
P2093
A Gansmuller
H Koutnikova
K Fischbeck
P304
P3181
P356
10.1093/HMG/9.8.1219
P577
2000-05-01T00:00:00Z