Spinal Cord Atrophy Correlates with Disability in Friedreich's Ataxia.

Spinal Cord Atrophy Correlates with Disability in Friedreich's Ataxia. Chevis CF, da Silva CB, D'Abreu A, Lopes-Cendes I, Cendes F, Bergo FP, França MC. Cerebellum 2012 May 5.

Keywords: Friedreich's ataxia, spinal cord atrophy, spinal cord area, eccentricity at C2/C3 level, Friedreich ataxia rating scale (FARS).

What the Orphan Drug Act Has Done Lately for Children With Rare Diseases: A 10-Year Analysis

What the Orphan Drug Act Has Done Lately for Children With Rare Diseases: A 10-Year Analysis. Chandana Thorat, BTech, Kui Xu, MD, PhD, Scott N. Freeman, PhD, Renan A. Bonnel, PharmD, MPH, Francesca Joseph, MD, M. Ian Phillips, PhD, DSc, Menfo A. Imoisili, MD, MPH. Pediatrics Vol. 129 No. 3 March 1, 2012. pp. 516 -521 (doi: 10.1542/peds.2011-1798)

KEYWORDS: orphan drugs, rare diseases, Orphan Drug Act, pediatrics

Induced neural stem cells: a new tool for studying neural development and neurological disorders

Induced neural stem cells: a new tool for studying neural development and neurological disorders. Cell Research advance online publication 1 May 2012; doi: 10.1038/cr.2012.73, Guang-Hui Liu, Fei Yi, Keiichiro Suzuki, Jing Qu, Juan Carlos Izpisua Belmonte.
National Laboratory of Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, Beijing China. Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA. Center for Regenerative Medicine in Barcelona, 08003 Barcelona, Spain.

Recent advances in the generation of multipotent and expandable induced neural stem cells are exciting. They not only hold great promises for potential clinical applications but may also open up a new era for neural stem cell research in the near future.

alpha-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging. Bioorganic & Medicinal Chemistry Letters 21 (2011) 3693–3698, William D. Shrader, Akiko Amagata, Adam Barnes, Gregory M. Enns, Andrew Hinman, Orion Jankowski , Viktoria Kheifets, Ryo Komatsuzaki, Edgar Lee, Paul Mollard, Katsuyuki Murase, Alfredo A. Sadun, Martin Thoolen, Kieron Wesson, Guy Miller.

Keywords: Redox, Antioxidants, Quinone, Aging, Digital Biology, frataxin, Friedreich's Ataxia.

The role of hydration in protein stability: comparison of the cold and heat unfolded states of Yfh1.

The role of hydration in protein stability: comparison of the cold and heat unfolded states of Yfh1. JMol Biol. 2012Apr 13;417(5):413-24. Epub 2012 Feb 14. Adrover M, Martorell G, Martin SR, Urosev D, Konarev PV, Svergun DI, Daura X, Temussi P, Pastore A.

Keywors: Protein unfolding, high- and low-temperature unfolded states, Yfh1, residual secondary structures, protein stability.

The State of Gene Therapies: The FDA Perspective

The State of Gene Therapies: The FDA Perspective, Molecular Therapy (2012); 20 5, 877–878. doi:10.1038/mt.2012.51, Daniel Takefman and Wilson Bryan Full Text.

Keywords: Clinical development of gene therapy, 320 ongoing gene therapy clinical trials, Office of Cellular Tissue and Gene Therapies (OCTGT), Center for Biologics Evaluation and Research of the US Food and Drug Administration (FDA), treatments for specific, well-defined genetic disorders ... Full Text.

Human adipose stem cell-conditioned medium increases survival of Friedreich’s ataxia cells submitted to oxidative stress

Human adipose stem cell-conditioned medium increases survival of Friedreich’s ataxia cells submitted to oxidative stress . Dr. Jonathan Jones, Mrs. Alicia Estirado, Dr. Carolina Redondo, Dr. Carlos Bueno, and Salvador Martinez. Stem Cells and Development. doi:10.1089/scd.2012.0029.

Keywords: Friedreich’s ataxia, progressive gait, ataxia, cardiomyopathy, in vitro, adult stem cells, periodontal ligament cells, oxidative stress, adipose stem cell-conditioned medium, trophic factors, BDNF (brain-derived neurotrophic factor.

Decreased functional brain activation in Friedreich ataxia using the Simon effect task.

Decreased functional brain activation in Friedreich ataxia using the Simon effect task.Brain Cogn. 2012 Apr 27;79(3):200-208. [Epub ahead of print], Georgiou-Karistianis N, Akhlaghi H, Corben LA, Delatycki MB, Storey E, Bradshaw JL, Egan GF.

Keyword: Simon effect task, functional brain reorganization, Friedreich ataxia (FRDA), magnetic resonance imaging (fMRI).

Accelerating progress in iPS cell research for neurological diseases

Accelerating progress in iPS cell research for neurological diseases. Daisuke Ito, Hideyuki Okano and Norihiro Suzuki, Annals of Neurology, Accepted manuscript online: 29 MAR 2012 06:18AM EST | DOI: 10.1002/ana.23596 Keywords: induced pluripotent stem cells (iPSCs), pluripotency, embryonic stem cells (ESCs, personalized replacement therapy, elucidate the pathological processes, neurodegenerative diseases, drug discovery, regenerative medicine.

Scoliosis in patients with Friedreich's ataxia.

Scoliosis in patients with Friedreich's ataxia., J Bone Joint Surg Br. 2012 May;94(5):684-9. Tsirikos AI, Smith G. Scottish National Spine Deformity Centre, Royal Hospital for Sick Children, Sciennes Road, Edinburgh EH9 1LF, UK. doi: 10.1302/0301-620X.94B5.28391 Keywords: Friedreich's ataxia, scoliosis, thoracic curvatures, thoracolumbar, double thoracic/lumbar, pelvic obliquity, hyperkyphosis.