Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design

Movement Disorders, Early View (Articles online in advance of print)
Published Online: 8,Jan,2010

 Lisa S. Friedman, BS ^{1 2 3}, Jennifer M. Farmer, MS ^{1 2 3}, Susan Perlman, MD ⁴, George Wilmot, MD, PhD ⁵, Christopher M. Gomez, MD PhD ^{6 7}, Khalaf O. Bushara, MD ⁶, Katherine D. Mathews, MD ⁸, S. H. Subramony, MD ^{9 10}, Tetsuo Ashizawa, MD ^{9 11}, Laura J. Balcer, MD, MSCE ¹, Robert B. Wilson, MD, PhD ¹², David R. Lynch ^{1 2 3 *1}Department of Neurology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
²Department of Pediatrics, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
³Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
⁴Department of Neurology, David Geffen School of Medicine at the University of California, Los Angeles, Los Angeles, California, USA
⁵Department of Neurology, Emory University, Atlanta, Georgia, USA
⁶Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA
⁷Department of Neurology, University of Chicago, Chicago, Illinois, USA
⁸Departments of Neurology and Pediatrics, University of Iowa, Iowa City, Iowa, USA
⁹Department of Neurology, University of Texas Medical Branch, Galveston, Texas, USA
¹⁰Department of Neurology, University of Mississippi, Jackson, Mississippi, USA
¹¹Department of Neurology, University of Florida, Gainesville, Florida, USA
¹²Department of Pathology and Laboratory Medicine, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania

Keywords: Friedreich ataxia, natural history study, clinical neurology examination, mitochondrial disorder, trinucleotide repeat disease 

Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin.

Hum Mol Genet. 2010 Jan 6.

Condò I, Malisan F, Guccini I, Serio D, Rufini A, Testi R.

Laboratory of Signal Transduction, Department of Experimental Medicine and Biochemical Sciences, University of Rome "Tor Vergata", Rome.

Keywords: , frataxin,  Friedreich's Ataxia (FRDA),  progressive gait instability, cardiomyopathy, high incidence of diabetes, iron-binding protein,  iron-sulfur clusters (ISC),  iron-chaperone, extramitochondrial pool of mature frataxin, cytosolic aconitase/IRP1, enzymatic and a RNA-binding function,  IRP1 activation.

Stem cells in human neurodegenerative disorders — time for clinical translation?

Clin. Invest. 120(1): 29-40 (2010). doi:10.1172/JCI40543. (January 4, 2010)

Olle Lindvall, Zaal Kokaia

Keywords: Stem cell–based approaches, potential treatments, neurodegenerative disorders, improve function, remyelination, trophic actions,modulation of inflammation.

Subcellular targeting strategies for drug design and delivery

Nature Reviews Drug Discovery 9, 29-42 (January 2010) | doi:10.1038/nrd2897

Lawrence Rajendran , Hans-Joachim Kn|[ouml]|lker & Kai Simons  

Keywords: drug targets, drug design strategies,  bioavailability,  tissue targeting, specific intracellular compartments.

Molecular diagnostics: techniques and applications for the clinical laboratory

Book review.

Wayne Grody, UCLA School of Medicine, Los Angeles, CA, USA Professor Divisions of Medical Genetics and Molecular Pathology Departments of Path. & Lab. Medicine, Pediatrics, and Human Genetics UCLA School of Medicine Los Angeles, CA 90095-1732
Robert Nakamura, Scripps Clinic, La Jolla, CA, U.S.A.
Frederick Kiechle, Medical Director, Clinical Pathology Department of Pathology Pathology Consultants of South Broward Memorial Healthcare System
Charles Strom, Medical Director, Genetic Testing Center Nichols Institute, Quest Diagnostics, San Juan Capistrano, CA, U.S.A. s

Hardbound, 736 pages, publication date: DEC-2009
ISBN-13: 978-0-12-369428-7
ISBN-10: 0-12-369428-0
Imprint: ACADEMIC PRESS

In Vivo Fluorescent Detection of Fe-S Clusters Coordinated by Human GRX2

Kevin G. Hoff^1, 2, 4,, Stephanie J. Culler^1, 4, Peter Q. Nguyen², Ryan M. McGuire³, Jonathan J. Silberg^2, 3, and Christina D. Smolke^1
1 Division of Chemistry and Chemical Engineering, California Institute of Technology, 1200 E. California Boulevard, Mail Code 210-41, Pasadena, CA 91125, USA
² Department of Biochemistry and Cell Biology, Rice University, 6100 Main Street, MS 140, Houston, TX 77005, USA
³ Department of Bioengineering, Rice University, 6100 Main Street, MS 140, Houston, TX 77005, USA

Keywords: Fe-S cluster biosynthesis, fluorescent approach, 2Fe2S clusters, Venus fluorescent protein, glutaredoxin 2 (GRX2), ISCU, NFS1. 

Splitting Fluorescent Protein Helps Image Clusters in Live Cells

AZoM.com Pty.Ltd


Posted December 24th, 2009


Keywords: Iron-sulfur clusters, Friedreich's ataxia, sideroblastic anemia, myopathy, fluorescent protein, GRX2, iron-sulfur irregularities, American Heart Association, Friedreich's Ataxia Research Alliance, Robert A. Welch Foundation.

A structural and functional homolog supports a general role for frataxin in cellular iron chemistry

Communication:

Chem. Commun.2010, DOI: 10.1039/b911975b

Wenbin Qi and J. A. Cowan

Keyword:  Bacillus subtilis,  YdhG, frataxin family, iron homeostasis.

Safety and Efficacy Study of A0001 in Subjects With Friedreich's Ataxia

This study is currently recruiting participants.

Verified by Penwest Pharmaceuticals Co., December 2009

First Received: December 17, 2009   Last Updated: December 18, 2009   History of Changes

Sponsor:	Penwest Pharmaceuticals Co.
Information provided by:	Penwest Pharmaceuticals Co.
ClinicalTrials.gov Identifier:	NCT01035671

Condition	Intervention	Phase
Friedreich's Ataxia	Drug: alpha-tocopherolquinone (A0001) Drug: placebo	Phase II

Age and Dietary Iron Affect Expression of Genes Involved in Iron Acquisition and Homeostasis in Young Pigs.

J Nutr. 2009 Dec 16. [Epub ahead of print]

Hansen SL, Trakooljul N, Spears JW, Liu HC.

Department of Animal Science, North Carolina State University, Raleigh, NC 27695-7621.

Highlight:  "frataxin decreased with age of the animal", " the expression of some genes examined in this study was affected by age".