The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia
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Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular modelsFriedreich’s Ataxia Variants I154F and W155R Diminish Frataxin-Based Activation of the Iron–Sulfur Cluster Assembly ComplexOxidative stress and the homeodynamics of iron metabolismGeneration and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell modelsNeurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.Mutation in the Fe-S scaffold protein Isu bypasses frataxin deletion.Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.Mesenchymal stem cells restore frataxin expression and increase hydrogen peroxide scavenging enzymes in Friedreich ataxia fibroblastsFriedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.Frataxin and mitochondrial FeS cluster biogenesis.Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.A new cellular model to follow Friedreich's ataxia development in a time-resolved way.Effector role reversal during evolution: the case of frataxin in Fe-S cluster biosynthesis.Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms.Friedreich ataxia: new pathways.Mammalian iron metabolism and its control by iron regulatory proteinsNeurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stressMitochondrial metals as a potential therapeutic target in neurodegeneration.Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.Animal and cellular models of Friedreich ataxia.Targeting mitochondrial metal dyshomeostasis for the treatment of neurodegeneration.Selected missense mutations impair frataxin processing in Friedreich ataxiaCompound heterozygous FXN mutations and clinical outcome in friedreich ataxia.Frataxin silencing inactivates mitochondrial Complex I in NSC34 motoneuronal cells and alters glutathione homeostasisInsights into the role of oxidative stress in the pathology of Friedreich ataxia using peroxidation resistant polyunsaturated fatty acids.Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia.Mitofusin-Dependent ER Stress Triggers Glial Dysfunction and Nervous System Degeneration in a Drosophila Model of Friedreich's Ataxia.
P2860
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P2860
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia
description
2009 nî lūn-bûn
@nan
2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
The first cellular models base ...... ociated with Friedreich ataxia
@ast
The first cellular models base ...... ociated with Friedreich ataxia
@en
The first cellular models base ...... ociated with Friedreich ataxia
@nl
type
label
The first cellular models base ...... ociated with Friedreich ataxia
@ast
The first cellular models base ...... ociated with Friedreich ataxia
@en
The first cellular models base ...... ociated with Friedreich ataxia
@nl
prefLabel
The first cellular models base ...... ociated with Friedreich ataxia
@ast
The first cellular models base ...... ociated with Friedreich ataxia
@en
The first cellular models base ...... ociated with Friedreich ataxia
@nl
P2093
P2860
P3181
P1433
P1476
The first cellular models base ...... ociated with Friedreich ataxia
@en
P2093
Alain Martelli
Cécile Bouton
Hélène Puccio
Laurence Reutenauer
Marie Wattenhofer-Donzé
Michel Koenig
Nadège Calmels
Nadège Vaucamps
Stéphane Schmucker
P2860
P3181
P356
10.1371/JOURNAL.PONE.0006379
P407
P577
2009-07-24T00:00:00Z