A Potential New Therapeutic Approach for Friedreich Ataxia: Induction of Frataxin Expression With TALE Proteins

A Potential New Therapeutic Approach for Friedreich Ataxia: Induction of Frataxin Expression With TALE Proteins. Pierre Chapdelaine, Zoé Coulombe, Amina Chikh, Catherine Gérard and Jacques P Tremblay. Molecular Therapy Nucleic Acids (2013) 2, e119; doi:10.1038/mtna.2013.41
Published online 3 September 2013.

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Energy failure—does it contribute to neurodegeneration?

Energy failure—does it contribute to neurodegeneration?. Divya Pathak, Amandine Berthet and Ken Nakamura; Annals of Neurology, Accepted manuscript online: 22 AUG 2013 04:13PM EST | DOI: 10.1002/ana.24014

Energy failure has never been directly demonstrated in affected neurons in these diseases, nor has it been proved to produce degeneration in disease models but energy failure from mitochondrial dysfunction is proposed to be a central mechanism leading to neuronal death in a range of neurodegenerative diseases.

Widespread and enzyme-independent N ε - acet ylation and N ε -succinylation of proteins in the chemical conditions of the mitochondrial matrix

Widespread and enzyme-independent Nε-acetylation and Nε-succinylation of proteins in the chemicalconditions of the mitochondrial matrix. Gregory R. Wagner and R. Mark Payne; J. Biol. Chem. jbc.M113.486753. First Published on August 13, 2013, doi:10.1074/jbc.M113.486753

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Quantitative profiling and identification of differentially expressed plasma proteins in friedreich's ataxia

Quantitative profiling and identification of differentially expressed plasma proteins in friedreich's ataxia. Swarup, V., Srivastava, A. K., Padma, M. V. and Rajeswari, M. R.; J. Neurosci. Res.. doi: 10.1002/jnr.23262

Keywords: Friedreich's ataxia (FRDA), plasma proteins, α1-antitrypsin, apolipoprotein A-I, albumin, apolipoprotein C-II, C-III.

Iron–Sulfur Centers

Iron–Sulfur Centers: New Roles for Ancient Metal Sites. R. Grazina, S.R. Pauleta, J.J.G. Moura, I. Moura; Comprehensive Inorganic Chemistry II (Second Edition), Volume 3, 2013, Pages 103-148

Bioinorganic Neurochemistry. D.S. Folk, F. Kielar, K.J. Franz; Comprehensive Inorganic Chemistry II (Second Edition), Volume 3, 2013, Pages 207-240

Mitochondrial DNA Instability in Cells Lacking Aconitase Correlates with Iron Citrate Toxicity

Mitochondrial DNA Instability in Cells Lacking Aconitase Correlates with Iron Citrate Toxicity. Muhammad A. Farooq, Tammy M. Pracheil, Zhejun Dong, Fei Xiao, and Zhengchang Liu. Oxidative Medicine and Cellular Longevity, Volume 2013 (2013), Article ID 493536, 10 pages
http://dx.doi.org/10.1155/2013/493536

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Multifaceted roles of ultra-rare and rare disease patients/parents in drug discovery

Multifaceted roles of ultra-rare and rare disease patients/parents in drug discovery. Jill Wood, Lori Sames, Allison Moore, Sean Ekins. Drug Discovery Today, Available online 19 August 2013. http://dx.doi.org/10.1016/j.drudis.2013.08.006

Keywords: Advocacy; Collaboration; Crowdfunding; Drug discovery; Foundations; Hereditary diseases; Patient advocates; Patient support; Rare diseases; Translational research; Ultra-rare diseases

Frataxin mRNA isoforms in FRDA patients and normal subjects: effect of tocotrienol supplementation

Frataxin mRNA isoforms in FRDA patients and normal subjects: effect of tocotrienol supplementation. Provvidenza Maria Abruzzo, Marina Marini, Alessandra Bolotta, Gemma Malisardi, Stefano Manfredini, Alessandro Ghezzo, Antonella Pini, Gianluca Tasco, and Rita Casadio. BioMed Research International.

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Epigenetic modifications in trinucleotide repeat diseases

Epigenetic modifications in trinucleotide repeat diseases. Marguerite V. Evans-Galea, Anthony J. Hannan, Nissa Carrodus, Martin B. Delatycki, Richard Saffery. Trends in Molecular Medicine, Available online 14 August 2013

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Systematic review of available evidence on 11 high-priced inpatient orphan drugs

Systematic review of available evidence on 11 high-priced inpatient orphan drugs. Tim A Kanters, Caroline de Sonneville-Koedoot, W Ken Redekop and Leona Hakkaart. Orphanet Journal of Rare Diseases 2013, 8:124 doi:10.1186/1750-1172-8-124.

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