Scientific News

2010

Exercise Capacity and Idebenone Intervention in Children and Adolescents With Friedreich Ataxia
Bart E. Drinkard MSPT, Randall E. Keyser PhD, Scott M. Paul MD, Ross Arena PhD, PT, Jonathan F. Plehn MD, Jack A. Yanovski MD, PhD and Nicholas A. Di Prospero MD, PhD
Arch Phys Med Rehabil. 2010 Jul;91(7):1044-50.

Low predisposition to instability of the Friedreich ataxia gene in Cuban population
Tania Cruz-Marino, Yanetza Gonzalez-Zaldivar, Jose Miguel laffita-Mesa, Raul Aguilera-Rodriguez, Luis Velazquez-Perez
Clin Genet. 2010 Jun;77(6):598-600

Transposon Tn7 Preferentially Inserts into GAA-TTC Triplet Repeats under Conditions Conducive to Y-R-Y Triplex Formation
Miriam Mancuso, Mimi C. Sammarco, Ed Grabczyk
PLoS One. 2010 Jun 15;5(6):e11121

Frataxin and mitochondrial Fe-S cluster biogenesis
Timothy L. Stemmler, Emmanuel Lesuisse, Debkumar Pain, Andrew Dancis
J. Biol. Chem. published 3 June 2010, 10.1074/jbc.R110.118679

Variations of frataxin protein levels in normal individuals
Boehm T, Scheiber-Mojdehkar B, Kluge B, Goldenberg H, Laccone F, Sturm B
Neurol Sci. 2010 May 27. [Epub ahead of print]

Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol
Des R. Richardson, Darius J. R. Lane, Erika M. Becker, Michael L.-H. Huang, Megan Whitnall, Yohan Suryo Rahmanto, Alex D. Sheftel, and Prem Ponka
PNAS. published 21 May 2010, 10.1073/pnas.0912925107

Human iron-sulfur cluster assembly, cellular iron homeostasis and disease
Ye H, Rouault TA
Biochemistry. 2010 May 18. [Epub ahead of print]

Friedreich's ataxia cardiomyopathy: case based discussion and management issues
Hanley A, Corrigan R, Mohammad S, MacMahon B
Ir Med J. 2010 Apr;103(4):117-8.

Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia
Rajagopalan B, Francis JM, Cooke F, Korlipara LV, Blamire AM, Schapira AH, Madan J, Neubauer S, Cooper JM
Mov Disord. 2010 May 15;25(7):846-52.

Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications
Friedman LS, Paulsen EK, Schadt KA, Brigatti KW, Driscoll DA, Farmer JM, Lynch DR
Am J Obstet Gynecol. 2010 May 15

Ocular Motor Fixation Deficits in Friedreich Ataxia
Hocking DR, Fielding J, Corben LA, Cremer PD, Millist L, White OB, Delatycki MB
Cerebellum. 2010 May 15. [Epub ahead of print]

Altered lipid metabolism in a Drosophila model of Friedreich's ataxia
Juan A. Navarro, Elisabeth Ohmann, Diego Sanchez, Jose A. Botella, Gerhard Liebisch, Maria D. Molto, Maria D. Ganfornina, Gerd Schmitz, and Stephan Schneuwly
Hum. Mol. Genet. published 10 May 2010, 10.1093/hmg/ddq183

Carbamylated erythropoietin increases frataxin independent from the erythropoietin receptor
Sturm B, Helminger M, Steinkellner H, Heidari MM, Goldenberg H, Scheiber-Mojdehkar B
Eur J Clin Invest. 2010 Apr 28. [Epub ahead of print]

Nitric oxide and frataxin: two players contributing to maintain cellular iron homeostasis
Leonor Ramirez, Eduardo Julian Zabaleta, and Lorenzo Lamattina
Ann. Bot. 2010; 105(5): p. 801-810

Dysarthria in Friedreich's Ataxia: A Perceptual Analysis
Joanne Folker, Bruce Murdoch, Louise Cahill, Martin Delatycki, Louise Corben, Adam Vogel
Folia Phoniatr Logop 2010;62:97-103 (DOI: 10.1159/000287207)

Understanding the molecular mechanisms of Friedreich Ataxia to develop therapeutic approaches
Schmucker S, Puccio H
Hum Mol Genet. 2010 Apr 22. [Epub ahead of print]
PMID: 20413654 [PubMed - as supplied by publisher]

Intermediate-dose idebenone and quality of life in Friedreich ataxia
Brandsema JF, Stephens D, Hartley J, Yoon G
Pediatr Neurol. 2010 May;42(5):338-42.

Health-related quality of life in children with Friedreich ataxia
Paulsen EK, Friedman LS, Myers LM, Lynch DR
Pediatr Neurol. 2010 May;42(5):335-7.

Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation
Kakhlon O, Breuer W, Munnich A, Cabantchik ZI
Can J Physiol Pharmacol. 2010 Mar;88(3):187-96.

Influence of Genetic Factors on Left Ventricular Structure and Function in Friedreich's Ataxia
Sarah Lagedrost, Ted Plappert, Martin St John Sutton, and David Lynch
J. Am. Coll. Cardiol. 2010; 55(10_MeetingAbstracts): p. A27.E259

Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation
Punga T, Buhler M
EMBO Mol Med. 2010 Apr 1;2(4):120-129. [Epub ahead of print]

Therapeutic use of coenzyme Q(10) and coenzyme Q(10)-related compounds and formulations
Villalba JM, Parrado C, Santos-Gonzalez M, Alcain FJ
Expert Opin Investig Drugs. 2010 Apr;19(4):535-54.

North and South Indian Populations Share a Common Ancestral Origin of Friedreich's Ataxia but Vary in Age of GAA Repeat Expansion
Singh I, Faruq M, Mukherjee O, Jain S, Pal PK, Srivastav MV, Behari M, Srivastava AK, Mukerji M
Ann Hum Genet. 2010 Mar 31. [Epub ahead of print]

PGC-1alpha Down-Regulation Affects the Antioxidant Response in Friedreich's Ataxia
Daniele Marmolino, Mario Manto, Fabio Acquaviva, Paola Vergara, Ajay Ravella, Antonella Monticelli, Massimo Pandolfo
doi:10.1371/journal.pone.0010025

Pathology and pathogenesis of sensory neuropathy in Friedreich's ataxia
Morral JA, Davis AN, Qian J, Gelman BB, Koeppen AH
Acta Neuropathol. 2010 Mar 26. [Epub ahead of print]

Friedreich ataxia presenting as sudden cardiac death in childhood: Clinical, genetic and pathological correlation, with implications for genetic testing and counselling
Quercia N, Somers GR, Halliday W, Kantor PF, Banwell B, Yoon G.
Neuromuscul Disord. 2010 Mar 23. [Epub ahead of print]

Evidence that yeast frataxin is not an iron storage protein In Vivo
Alexandra Seguin, Robert Sutak, Anne-Laure-Bulteau, Richard Garcia-Serres, Jean-Louis Oddou, Sophie Lefevre, Renata Santos, Andrew Dancis, Jean-Michel Camadro, Jean-Marc Latour, and Emmanuel Lesuisse
doi:10.1016/j.bbadis.2010.03.008

Does oxidative stress contribute to the pathology of Friedreich's ataxia? A radical question
Jeffrey S. Armstrong, Omar Khdour, and Sidney M. Hecht
Published online before print March 10, 2010 as doi: 10.1096/fj.09-143222

Prevalence of interatrial block in patients with Friedreich's Ataxia
Panas M, Gialafos E, Spengos K, Papaioannou TG, Aggeli K, Kladi A, Siasos G, Gialafos J, Vassilopoulos D, Stefanadis C
Int J Cardiol. 2010 Mar 6. [Epub ahead of print] PMID: 20211503

A role for p53 in mitochondrial stress response control of longevity in C. elegans
Torgovnick A, Schiavi A, Testi R, Ventura N
Exp Gerontol. 2010 Feb 18. [Epub ahead of print] PMID: 20172019

Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia
Diehl B, Lee MS, Reid JR, Nielsen CD, Natowicz MR
Neurogenetics. 2010 Feb 17. [Epub ahead of print] PMID: 20162437

FRIEDREICH'S ATAXIA: MOLECULAR MECHANISMS, REDOX CONSIDERATIONS AND THERAPEUTIC OPPORTUNITIES
Santos R, Lefevre S, Sliwa D, Seguin A, Camadro JM, Lesuisse E
Antioxid Redox Signal. 2010 Feb 16. [Epub ahead of print] PMID: 20156111

Automatic method of pause measurement for normal and dysarthric speech
Kristin Rosen, Bruce Murdoch, Joanne Folker, Adam Vogel, Louise Cahill, Martin Delatycki, Louise Corben
Clinical Linguistics & Phonetics, 2010, Vol. 24, No. 2, Pages 141-154.

Frataxin, a molecule of mystery: trading stability for function in its iron-binding site
Darius J. R. Lane and Des R. Richardson
Biochem J. 2010 Feb 9;426(2):e1-3.

Flavin Adenine Dinucleotide Rescues the Phenotype of Frataxin Deficiency
Pilar Gonzalez-Cabo, Sheila Ros, Francesc Palau
PLoS ONE 5(1): e8872. doi:10.1371/journal.pone.0008872

Two New Pimelic Diphenylamide HDAC Inhibitors Induce Sustained Frataxin Upregulation in Cells from Friedreich's Ataxia Patients and in a Mouse Model
Myriam Rai, Elisabetta Soragni, C. James Chou, Glenn Barnes, Steve Jones, James R. Rusche, Joel M. Gottesfeld, Massimo Pandolfo
PLoS ONE 5(1): e8825. doi:10.1371/journal.pone.0008825

A high throughput electrochemiluminescence assay for the quantification of frataxin protein levels
Steinkellner H, Scheiber-Mojdehkar B, Goldenberg H, Sturm B
Anal Chim Acta. 2010 Feb 5;659(1-2):129-32. Epub 2009 Nov 27.

Altered Gene Expression and DNA Damage in Peripheral Blood Cells from Friedreich''s Ataxia Patients: Cellular Model of Pathology
Astrid C. Haugen, Nicholas A. Di Prospero, Joel S. Parker, Rick D. Fannin, Jeff Chou, Joel N. Meyer, Christopher Halweg, Jennifer B. Collins, Alexandra Durr, Kenneth Fischbeck, Bennett Van Houten
PLoS Genet 6(1): e1000812. doi:10.1371/journal.pgen.1000812

Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design
Friedman LS, Farmer JM, Perlman S, Wilmot G, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Balcer LJ, Wilson RB, Lynch DR
Mov Disord. 2010 Jan 8. [Epub ahead of print]

Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin
Ivano Condo, Florence Malisan, Ilaria Guccini, Dario Serio, Alessandra Rufini, and Roberto Testi
Hum. Mol. Genet. published 6 January 2010, 10.1093/hmg/ddp592