Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models
about
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defectsIron and sulfur in proteins. How does the cell build Fe-S clusters, cofactors essential for life?Chronochemistry in neurodegenerationIron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster deliveryOxidative stress and the homeodynamics of iron metabolismThe promise and perils of HDAC inhibitors in neurodegenerationNeurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.Genome-Engineering Tools to Establish Accurate Reporter Cell Lines That Enable Identification of Therapeutic Strategies to Treat Friedreich's Ataxia.Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease.A new cellular model to follow Friedreich's ataxia development in a time-resolved way.Tissue specificity of a human mitochondrial disease: differentiation-enhanced mis-splicing of the Fe-S scaffold gene ISCU renders patient cells more sensitive to oxidative stress in ISCU myopathy.Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy.Insertion mutants in Drosophila melanogaster Hsc20 halt larval growth and lead to reduced iron-sulfur cluster enzyme activities and impaired iron homeostasis.High-dose thiamine improves the symptoms of Friedreich's ataxiaFriedreich ataxia: neuropathology revised.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Fixing frataxin: 'ironing out' the metabolic defect in Friedreich's ataxiaFrataxin: a protein in search for a function.Mitochondrial pathophysiology in Friedreich's ataxia.Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation.Epigenetic-based therapies for Friedreich ataxia.Cardiomyopathy in a dish: using human inducible pluripotent stem cells to model inherited cardiomyopathies.Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neuronsHINT2 and fatty liver disease: mitochondrial protein hyperacetylation gives a hint?Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia.Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's Ataxia.Increased Frataxin Expression Induced in Friedreich Ataxia Cells by Platinum TALE-VP64s or Platinum TALE-SunTag.
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P2860
Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models
description
2012 nî lūn-bûn
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2012 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մարտին հրատարակված գիտական հոդված
@hy
2012年の論文
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2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Understanding the genetic and ...... ugh animal and cellular models
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Understanding the genetic and ...... ugh animal and cellular models
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Understanding the genetic and ...... ugh animal and cellular models
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type
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Understanding the genetic and ...... ugh animal and cellular models
@ast
Understanding the genetic and ...... ugh animal and cellular models
@en
Understanding the genetic and ...... ugh animal and cellular models
@nl
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Understanding the genetic and ...... ugh animal and cellular models
@ast
Understanding the genetic and ...... ugh animal and cellular models
@en
Understanding the genetic and ...... ugh animal and cellular models
@nl
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Understanding the genetic and ...... ugh animal and cellular models
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Alain Martelli
Marek Napierala
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P304
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10.1242/DMM.008706
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P577
2012-03-01T00:00:00Z