Iron-Sulfur Cluster Synthesis, Iron Homeostasis and Oxidative Stress in Friedreich Ataxia

Iron-Sulfur Cluster Synthesis, Iron Homeostasis and Oxidative Stress in Friedreich Ataxia; Rachael A. Vaubel, Grazia Isaya; Molecular and Cellular Neuroscience, Available online 10 August 2012, http://dx.doi.org/10.1016/j.mcn.2012.08.003

Keywords: frataxin, mitochondria, heme, oxidative stress, anti-oxidants, iron-chelators, ISC, iron-sulfur clusters, FRDA, Friedreich ataxia, NFS1/Nfs1, human/yeast cysteine desulfurase, ISD11/Isd11, human/yeast NFS1-/Nfs1-binding protein, ISCU/Isu1, human/yeast scaffold protein, MPP, mitochondrial processing peptidase.

The Essential Iron-Sulfur Protein Rli1 is an Important Target Accounting for Inhibition of Cell Growth by Reactive Oxygen Species

The Essential Iron-Sulfur Protein Rli1 is an Important Target Accounting for Inhibition of Cell Growth by Reactive Oxygen Species.Alhebshi A, Sideri TC, Holland SL, Avery SV.; Mol Biol Cell. 2012 Aug 1. Keywords: Oxidative stress, reactive oxygen species (ROS), molecular target(s), Rli1p (ABCE1), ROS-labile cofactors (Fe-S clusters).

Role of frataxin in erythropoietin- and carbamoylated erythropoietin- mediated neuroprotective effects in the mouse retina after acute retinal ischemia/reperfusion in vivo

Role of frataxin in erythropoietin- and carbamoylated erythropoietin- mediated neuroprotective effects in the mouse retina after acute retinal ischemia/reperfusion in vivo. Rowena Schultz, Otto W Witte, Christian Schmeer F1000 Posters 2012, 3: 889 (poster); Presented at 7th International Symposium on Neuroprotection and Neurorepair 2012, 2 - 5 May 2012, PIII -40

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Quantitative Analysis to Guide Orphan Drug Development

Quantitative Analysis to Guide Orphan Drug Development.L J Lesko. Clinical Pharmacology & Therapeutics (2012); 92 2, 258–261. doi:10.1038/clpt.2012.80

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Neuroprotection with non-feminizing estrogen analogues: An overlooked possible therapeutic strategy

Neuroprotection with non-feminizing estrogen analogues: An overlooked possible therapeutic strategy.James W. Simpkins, Timothy E. Richardson, Kun Don Yi, Evelyn Perez, Douglas F. Covey; Hormones and Behavior, Available online 3 April 2012. http://dx.doi.org/10.1016/j.yhbeh.2012.03.013. This article is part of a Special Issue entitled Hormones & Neurotrauma.

Keywords: estrogens, estrogen receptors (ERs), neuroprotective activity, non-ER mechanisms, synthetic non-feminizing estrogens, phenolic, Friedreich's Ataxia, cell model, oxidative stress, Hormone therapy.

Unintended effects of orphan product designation for rare neurological diseases

Unintended effects of orphan product designation for rare neurological diseases, Sinéad M Murphy, Araya Puwanant and Robert C. Griggs, the CINCH IHC Consortia of the Rare Disease Clinical Research Network Unintended effects of orphan product designation for rare neurological diseases. Annals of Neurology, Accepted manuscript online: 22 JUN 2012 03:53AM EST | DOI: 10.1002/ana.23672.

Epigenetic mechanisms in neurological disease

Epigenetic mechanisms in neurological disease. Mira Jakovcevski & Schahram Akbarian;Nature Medicine 18, 1194–1204(2012) doi:10.1038/nm.2828. Published online 06 August 2012.

Keywords: epigenomes, DNA methylation, covalent histone modifications, chromatin defects, neurodegenerative disease, neuroepigenetics.

Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions.

Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions. Ashley CN, Hoang KD, Lynch DR, Perlman SL, Maria BL.J Child Neurol 0883073812448840, first published on August 1, 2012 Keywords: Childhood ataxia, Friedreich ataxia, GAA repeat expansion, frataxin gene, mitochondrial function, reactive oxygen species, iron.

The p53-depen dent expression of frataxin controls 5-aminolevulinic acid (ALA)-induced accumulation of protoporphyrin IX and photo-damage in cancerous cells

The p53-depen dent expression of frataxin controls 5-aminolevulinic acid (ALA)-induced accumulation of protoporphyrin IX and photo-damage in cancerous cells. Mari Sawamoto, Takafumi Imai, Mana Umeda, Koji Fukuda, Takao Kataoka and Shigeru Taketani; Photochemistry and Photobiology. Accepted manuscript online: 3 AUG 2012 02:40AM EST | DOI: 10.1111/j.1751-1097.2012.01215.x Keyword: Mitochondrial frataxin, iron homeostasis, iron-sulfur cluster biogenesis, oxidative stress, apoptosis, tumor suppressor, p53-dependent, heme biosynthesis, 5-aminolevulinic acid (ALA).

Ethical Considerations in Orphan Drug Approval and Use

Ethical Considerations in Orphan Drug Approval and Use. A S Kesselheim. Clinical Pharmacology & Therapeutics (2012); 92 2, 153–155. doi:10.1038/clpt.2012.92  

We conclude that small studies of appropriate design can support US FDA approval of new medicines for rare diseases.