Scientific News

2012

The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model
Ezzatizadeh V, Pinto RM, Sandi C, Sandi M, Al-Mahdawi S, Te Riele H, Pook MA
Neurobiol Dis. 2012 Jan 20. [Epub ahead of print]
Posted: 02-01-2012 - FARA Funded Research

Oxidative stress induces mitochondrial fragmentation in frataxin-deficient cells
Lefevre S, Sliwa D, Rustin P, Camadro JM, Santos R
Biochem Biophys Res Commun. 2012 Jan 17. [Epub ahead of print]
Posted: 02-01-2012

Differentiating profiles of speech impairments in Friedreich's ataxia: a perceptual and instrumental approach
Folker JE, Murdoch BE, Rosen KM, Cahill LM, Delatycki MB, Corben LA, Vogel AP
Int J Lang Commun Disord. 2012 Jan;47(1):65-76. doi: 10.1111/j.1460-6984.2011.00078.x. Epub 2011 Aug 19
Posted: 02-01-2012 - FARA Funded Research

Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cells
Chandok GS, Patel MP, Mirkin SM, Krasilnikova MM
Nucleic Acids Res. 2012 Jan 19. [Epub ahead of print]
Posted: 01-23-2012 - FARA Funded Research

Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia
Kumari D, Lokanga R, Yudkin D, Zhao XN, Usdin K
Biochim Biophys Acta. 2012 Jan 5. [Epub ahead of print]
Posted: 01-18-2012

Movement disorders: Genetic and epigenetic factors determine the clinical course in Friedreich ataxia (PDF) Kingwell K
Nat Rev Neurol. 2012 Jan 10. doi: 10.1038/nrneurol.2011.215. [Epub ahead of print]

FXN methylation predicts expression and clinical outcome in friedreich ataxia (article)
Marguerite V. Evans-Galea, Nissa Carrodus, Simone M. Rowley, Louise A. Corben, Geneieve Tai, Richard Saffery, John C. Galati, Nicholas C. Wong, Jeffrey M. Craig, David R. Lynch, Sean Regner, Alicia F. D. Brocht, Susan L. Perlman, Khalaf O. Bushara, Christopher M. Gomez, George R. Wilmot, Lingli Li, Elizabeth Varley, Martin B. Delatycki, Joseph P. Sarsero
Posted: 01-14-2012 - FARA Funded Research

Use of an Adaptive Study Design in Single Ascending-Dose Pharmacokinetics of A0001 (α-Tocopherylquinone) in Healthy Male Subjects
Amale Hawi, PhD - Sarah Heald, PhD - Thomas Sciascia, MD
J Clin Pharmacol January 2012 vol. 52 no. 1 65-77
Posted: 01-06-2012

Substantia nigra hypoechogenicity in friedreich ataxia
Stockner H, Sojer M, Hering S, Nachbauer W, Seppi K, Schmidauer C, Poewe W, Boesch SM
Mov Disord. 2011 Dec 9. doi: 10.1002/mds.23989. [Epub ahead of print]
Posted: 01-02-2012

The yeast metacaspase is implicated in oxidative stress response in frataxin-deficient cells
Lefevre S, Sliwa D, Auchère F, Brossas C, Ruckenstuhl C, Boggetto N, Lesuisse E, Madeo F, Camadro JM, Santos R
FEBS Lett. 2011 Dec 7. [Epub ahead of print]
Posted: 01-02-2012