Stem cell Research  in Friedreich Ataxia – http://www.ataxia.org/events/2012-Presentations/Saturday/Puccio_2012.pdf

Human adipose stem cell-conditioned medium increases survival of Friedreich’s ataxia cells submitted to oxidative stress. – http://www.ncbi.nlm.nih.gov/pubmed/22548386

Scientific symposium covers research behind the “therapeutic revolution” in Friedreich’s ataxia – http://hscweb3.hsc.usf.edu/blog/2013/09/23/scientific-symposium-covers-research-behind-the-therapeutic-revolution-in-friedreichs-ataxia/

Scientific symposium to share latest advances in ataxia research [VIDEO] – http://hscweb3.hsc.usf.edu/blog/2013/08/30/scientific-symposium-to-share-latest-advances-in-ataxia-research-video/

Scripps Research Team Reverses Friedreich’s Ataxia Defect in Cell Culture – http://www.scripps.edu/newsandviews/e_20060828/gottesfeld.html


Episomal Transgene Expression in Pluripotent Stem Cells

MMP Lufino, AR Popplestone, SA Cowley… – Human Pluripotent Stem …, 2011 – Springer
Episomal Transgene Expression in Pluripotent Stem Cells. 3. Once expression of stem cell markers
has been confirmed, trypsinize one of the wells and count work was supported by the Parkinson’s
UK Monument Trust Discovery Award; the Friedreich’s Ataxia Research Alliance

Recruitment and Biological Consequences of Histone Modification of H3K27me3 and H3K9me3

J Kim, H Kim – ILAR Journal, 2012 – ilarjournal.oxfordjournals.org
members, which are expressed during animal development, but not in pluripotent embryonic
stem cells, suggesting that PRC2 plays a role in maintaining the pluripotency and self tandem
repeat expansion, such as the GAA repeat expansion in Friedreich’s ataxia, and H3K9me3

The DNA Replication Program Is Altered at the< i> FMR1</i> Locus in Fragile X Embryonic Stem Cells

J Gerhardt, MJ Tomishima, N Zaninovic, D Colak… – Molecular cell, 2013 – Elsevier
1 Department of Cell Biology, Albert Einstein College of Medicine, Bronx, NY 10461, USA; 2 SKI
Stem Cell Research Facility, Sloan-Kettering FXS hESCs exhibit pluripotency similar to that of
cells during early development, suggesting that the molecular programs that lead to

Neurogenetics Five new things

S Jayadev, CO Smith, TD Bird – Neurology: Clinical Practice, 2011 – AAN Enterprises
as Huntington disease, myotonic muscular dystrophy, Charcot-Marie-Tooth (CMT) neuropathy,
and Friedreich ataxia. late-onset Huntington disease and a late-onset tremor ataxia phenotype
(FXTAS 17. The field of stem cell therapeutics is clearly exciting but cannot be reviewed

Current concepts in neuro-ophthalmology

K Digre, LK Gordon – Expert Review of Ophthalmology, 2012 – expert-reviews.com
She also discussed hereditary ataxias that have optic neuropathies such as Friedreich’s Ataxia
and hereditary polyneuropathies. Steve Stasheff (University of Iowa) showed improved ganglion
cell light responsiveness following pluripotent stem cell transplantation in a model of

Measures of growth in children at risk for Huntington disease

JK Lee, K Mathews, B Schlaggar, J Perlmutter… – Neurology, 2012 – AAN Enterprises
Research Support, Foundations and Societies: Friedreich’s Ataxia Research Alliance, site PI
(2007- 2012); Parent Project Muscular Dystrophy, PI, (2011-2012). Stock/Stock Options/Board
of Directors Compensation: NONE. License Fee Payments, Technology or Inventions:

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