Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.
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A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expressionCRISPR/Cas9: a powerful genetic engineering tool for establishing large animal models of neurodegenerative diseasesUnderstanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular modelsTherapeutic developments in Friedreich ataxiaThe role of mitochondria in cellular iron-sulfur protein biogenesis: mechanisms, connected processes, and diseasesMitochondrial involvement in neurodegenerative diseasesFriedreich’s Ataxia Variants I154F and W155R Diminish Frataxin-Based Activation of the Iron–Sulfur Cluster Assembly ComplexStructure–Function Analysis of Friedreich’s Ataxia Mutants Reveals Determinants of Frataxin Binding and Activation of the Fe–S Assembly ComplexNeurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.DNA dynamics is likely to be a factor in the genomic nucleotide repeats expansions related to diseases.Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Milestones in ataxiaNormal and Friedreich ataxia cells express different isoforms of frataxin with complementary roles in iron-sulfur cluster assemblyGenetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.Bioenergetics of the calf muscle in Friedreich ataxia patients measured by 31P-MRS before and after treatment with recombinant human erythropoietin.A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds.Frataxin participates to the hypoxia-induced response in tumorsTORC1 Inhibition by Rapamycin Promotes Antioxidant Defences in a Drosophila Model of Friedreich's AtaxiaEffector role reversal during evolution: the case of frataxin in Fe-S cluster biosynthesis.Friedreich's ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase.Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the DiseaseMitochondria: the next (neurode)generationFrataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons.Mammalian iron metabolism and its control by iron regulatory proteinsRationale for the development of 2-aminobenzamide histone deacetylase inhibitors as therapeutics for Friedreich ataxia.Binding of the chaperone Jac1 protein and cysteine desulfurase Nfs1 to the iron-sulfur cluster scaffold Isu protein is mutually exclusive.Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich's Ataxia Cells.Temporal Response Properties of the Auditory Nerve in Implanted Children with Auditory Neuropathy Spectrum Disorder and Implanted Children with Sensorineural Hearing Loss.His86 from the N-terminus of frataxin coordinates iron and is required for Fe-S cluster synthesis.Human platelets as a platform to monitor metabolic biomarkers using stable isotopes and LC-MS.Mitochondrial ferritin in the regulation of brain iron homeostasis and neurodegenerative diseasesFixing frataxin: 'ironing out' the metabolic defect in Friedreich's ataxiaA review of Friedreich ataxia clinical trial results.Histone methylation in the nervous system: functions and dysfunctions.Mitochondrial pathophysiology in Friedreich's ataxia.Oxidative stress and microRNAs in vascular diseases.Human stem cell models of neurodegeneration: a novel approach to study mechanisms of disease development.Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation.Neural crest cells: from developmental biology to clinical interventions.
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P2860
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 22 April 2010
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Understanding the molecular me ...... evelop therapeutic approaches.
@en
Understanding the molecular me ...... evelop therapeutic approaches.
@nl
type
label
Understanding the molecular me ...... evelop therapeutic approaches.
@en
Understanding the molecular me ...... evelop therapeutic approaches.
@nl
prefLabel
Understanding the molecular me ...... evelop therapeutic approaches.
@en
Understanding the molecular me ...... evelop therapeutic approaches.
@nl
P2860
P356
P1476
Understanding the molecular me ...... develop therapeutic approaches
@en
P2093
Stéphane Schmucker
P2860
P304
P356
10.1093/HMG/DDQ165
P577
2010-04-22T00:00:00Z