Pathophysiogical and therapeutic progress in Friedreich ataxia.

No abstract is available for this paper.

• Publication year

  2014

• Venue

  Revue neurologique (Paris)

• Publication date

  2014-05-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.neurol.2014.03.008PMID 24792433
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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• Mutation in the Fe-S scaffold protein Isu bypasses frataxin deletion.

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• Is Friedreich ataxia an epigenetic disorder?

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  2011influential reference
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• The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia

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• Impaired Nuclear Nrf2 Translocation Undermines the Oxidative Stress Response in Friedreich Ataxia

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• Urinary isoprostanes in Friedreich ataxia: Lack of correlation with disease features

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• Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life.

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• Selective iron chelation in Friedreich ataxia: biologic and clinical implications.

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• Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.

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• Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues.

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• Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial.

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• Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia.

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• Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia

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• DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing

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