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

FULL TEXT PDF

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.

FULL TEXT PDF

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

REVIEW

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.

Full text pdf

STRUCTURAL INSIGHTS INTO THE FUNCTION OF FRATAXIN

STRUCTURAL INSIGHTS INTO THE FUNCTION OF FRATAXIN . Project Information: STEMMLER, TIMOTHY LOUIS, WAYNE STATE UNIVERSITY,

An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's Ataxia

An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's Ataxia. ClinicalTrials.gov.

The purpose of this study is to learn how treatment with acetyl-L-carnitine (ALCAR) will affect the hearts of patients with Friedrich's Ataxia as well as how it may affect other symptoms of Friedrich's Ataxia such as difficulties with balance, walking, or upper arm function.

University of South Florida, Information provided by (Responsible Party): Theresa Zesiewicz, University of South Florida

A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds

A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds. Michele M.P. Lufino, Ana M. Silva2, Andrea H. Németh, Javier Alegre-Abarrategui, Angela J. Russell and Richard Wade-Martins. Hum. Mol. Genet. (2013), doi: 10.1093/hmg/ddt370

keywords: Friedreich's ataxia (FRDA), frataxin gene (FXN), cell models, GAA-expanded FXN genomic DNA reporter model, BAC vectors, luciferase.

Friedreich Ataxia: Executive Control Is Related to Disease Onset and GAA Repeat Length

Friedreich Ataxia: Executive Control Is Related to Disease Onset and GAA Repeat Length. Wolfgang Nachbauer, Thomas Bodner, Sylvia Boesch, Elfriede Karner, Andreas Eigentler, Lisa Neier, Thomas Benke, Margarete Delazer. The Cerebellum August 2013, DOI 10.1007/s12311-013-0513-8

Keywords: Friedreich ataxia (FRDA), specific cognitive impairment, GAA repeat size, age of onset, disease duration, executive functions, attention, memory, visual perception.