Friedreich Ataxia Scientific News

Uses of the postural stability test for differential diagnosis of hereditary ataxias.

2012-02-18T18:03:00.000+01:00

J Neurol Sci. 2012 Feb 13. http://dx.doi.org/10.1016/j.jns.2012.01.022. J. Schwabova a, F. Zahalka c, V. Komarek b, T. Maly c, P. Hrasky c, T. Gryc c, O. Cakrt d, A. Zumrova b a Department of Neurology, Charles University in Prague, 2nd Faculty of Medicine and the Motol University Hospital, V Úvalu 84, Prague 5, 150 06, Czech republic b Department of Paediatric Neurology, Charles University in

The Autosomal Recessive Cerebellar Ataxias

2012-02-16T14:41:00.000+01:00

N Engl J Med 2012; 366:636-646, February 16, 2012 Mathieu Anheim, M.D., Ph.D., Christine Tranchant, M.D., and Michel Koenig, M.D., Ph.D. Review Article

Substantia nigra hypoechogenicity in Friedreich ataxia.

2012-02-14T18:57:00.000+01:00

Mov Disord 2012 Feb; 27(2):332-3.DOI: 10.1002/mds.23989 Stockner H, Sojer M, Hering S, Nachbauer W, Seppi K, Schmidauer C, Poewe W, Boesch SM Department of Neurology, Medical University Innsbruck, Innsbruck, Austria. No abstract is available for this article.

Histone deacetylase inhibition activates transcription factor Nrf2 and protects against cerebral ischemic damage.

2012-02-11T02:31:00.000+01:00

Free Radic Biol Med. Volume 52, Issue 5, 1 March 2012, Pages 928–936, http://dx.doi.org/10.1016/j.freeradbiomed.2011.12.006 Wang B, Zhu X, Kim Y, Li J, Huang S, Saleem S, Li RC, Xu Y, Dore S, Cao W. Nanjing University Medical School, Jiangsu Key Lab of Molecular Medicine, Nanjing, People's Republic of China; Department of Anesthesiology and Critical Care Medicine, Johns Hopkins University

Cognitive function in Friedreich's ataxia patients in Ireland

2012-02-10T18:44:00.000+01:00

J Neurol Neurosurg Psychiatry 2012;83:e1 doi:10.1136/jnnp-2011-301993.43 C Albertyn, N Austin, R P Murphy Adelaide and Meath Hospital, Dublin, Ireland Keywords: Friedreich's ataxia (FRDA), cognitive function, genetically confirmed FRDA patients, age of onset, duration of symptoms, Friedreich's ataxia rating scale (FARS) score, neuropsychological test battery assessed immediate and delayed

Determination of Idebenone in Plasma by HPLC with Post -Column Fluorescence Derivatization using 2-Cyanoacetamide

2012-02-10T01:36:00.001+01:00

Chem Pharm Bull, Regular Article, Analytical Chemistry Yukio NOHARA a, Junko SUZUKI b, Yoji YAMAZAKI a, Hiroaki KUBO a. a Faculty of Pharmacy, Iwaki Meisei University, Iwaki, Fukushima 970-8551, Japan b School of Pharmacy, Kitasato University, Minato-ku, Tokyo 108-8641, Japan Keywords: Idebenone, Friedreich’s ataxia, 2-cyanoacetamide, fluorescence, HPLC with post-column fluorescence

New website: NIH Clinical Research Trials and You

2012-02-06T16:53:00.000+01:00

The National Institutes of Health has created a new website, NIH Clinical Research Trials and You to help people learn more about clinical trials, why they matter, and how to participate. GO to the new website

A Drosophila Model of Friedreich's Ataxia and Autophagic Heart Disease.

2012-02-03T01:23:00.000+01:00

Wayne State Univ, ?. Luan Wang. Inst Environmental Hlth Sci, Wayne State Univ, Detroit, MI. Keywords: Friedreich’s Ataxia (FRDA), Drosophila model for FRDA, UAS-Gal4 system, heart (tinman), neurons (elav), whole body (actin and daG32), reactive oxygen species (ROS) reagent, oxidative stress, autophagy activity. "This suggests that there is a threshold for frataxin level to maintain the normal

OX1 for Friedreich's Ataxia likely would enter Phase 2 clinical trials early in 2013

2012-02-02T20:31:00.000+01:00

NEW YORK, Feb.2, 2012 /PRNewswire/ --Intellect Neurosciences, Inc. (OTCBB:ILNS), a biopharmaceutical company engaged in the discovery and development of disease-modifying therapeutic agents for the treatment of Alzheimer's and other neurological diseases today issued the following Letter to Shareholders from Dr. Daniel Chain, Chairman and CEO. ViroPharma's CEO, spoke enthusiastically about his

Drugs and mitochondrial diseases: 40 queries and answers

2012-02-02T09:43:00.001+01:00

Expert Opinion on Pharmacotherapy 0 0:0, 1-17, Posted online on January 31, 2012. (doi:10.1517/14656566.2012.657177) Michelangelo Mancuso †1 MD PhD, Daniele Orsucci 1, Massimiliano Filosto 2, Costanza Simoncini 1 & Gabriele Siciliano 1 1 University of Pisa, Neurological Clinic, Department of Neuroscience, Via Roma 67, 56126 Pisa, Italy 2 University of Brescia, Italy Keywords carnitine, coenzyme

Nrf2 and oxidative stress protection

2012-02-02T01:32:00.000+01:00

Role of nuclear factor (erythroid-derived 2)-like 2 in metabolic homeostasis and insulin action: A novel opportunity for diabetes treatment? World J Diabetes. 2012 January 15; 3(1): 19-28. Published online 2012 January 15. doi: 10.4239/wjd.v3.i1.19. FULL TEXT PDF Zhi-Wen Yu, Dan Li, Wen-Hua Ling and Tian-Ru Jin. Zhi-Wen Yu, Dan Li, Wen-Hua Ling, Tian-Ru Jin, Guandong Provincial Key

A Revelation by the Yeast Model System

2012-02-01T00:49:00.001+01:00

Degree Essays, ?. Keywords: Friedreich Ataxia (FA), cardiomyopathy, diabetes mellitus, scoliosis, GAA trinucleotide repeats, iron, chelate iron, idebenone, Heat-shock protein (HSP) induction, manganese.

Neurological diseases remain neglected and ignored

2012-01-31T09:49:00.000+01:00

The Lancet, Volume 379, Issue 9813, Page 287, 28 January 2012, doi:10.1016/S0140-6736(12)60123-8 Editorial "A clinical champion for neurology who will present a national strategy with clear targets, an inbuilt monitoring and data collection system, and priorities for research is urgently needed and long overdue."

Is Friedreich ataxia an epigenetic disorder?

2012-01-30T10:10:00.000+01:00

Clinical Epigenetics 2012, 4:2 doi:10.1186/1868-7083-4-2 Published: 30 January 2012 (OPEN ACCESS) Daman Kumari and Karen Usdin Abstract (provisional) Friedreich ataxia (FRDA) is a debilitating and frequently fatal neurological disorder that is recessively inherited. It belongs to the group of genetic disorders known as the Repeat Expansion Diseases in which pathology arises from the

DNA helicase and helicase–nuclease enzymes with a conserved iron–sulfur cluster

2012-01-29T21:10:00.000+01:00

Nucl. Acids Res. (2012) doi: 10.1093/nar/gks039 First published online: January 28, 2012 (This article is Open Access) Yuliang Wu 1 and Robert M. Brosh Jr 2. 1 Department of Biochemistry, University of Saskatchewan, Health Sciences Building, Saskatoon, Saskatchewan, S7N 5E5, Canada 2 Laboratory of Molecular Gerontology, National Institute on Aging, NIH, NIH Biomedical Research Center, Baltimore

Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia

2012-01-27T19:48:00.000+01:00

Movement Disorders, Article first published online: 27 JAN 2012 | DOI: 10.1002/mds.24064 Brent L. Fogel, Ji Yong Lee, Jessica Lane, Amanda Wahnich, Sandy Chan, Alden Huang, Greg E. Osborn, Eric Klein, Catherine Mamah, Susan Perlman, Daniel H. Geschwind and Giovanni Coppola Keywords: cerebellar ataxia, copy number variation, dominant genetic conditions, recessive genetic conditions,

Iron dysregulation in movement disorders.

2012-01-26T17:02:00.000+01:00

Neurobiol Dis. 2012 Jan 12. [Epub ahead of print], http://dx.doi.org/10.1016/j.nbd.2011.12.054, Petr Dusek a, c, Joseph Jankovic a, Weidong Le b a Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA b Parkinson's Disease Research Laboratory, Department of Neurology, Baylor College of Medicine, Houston, TX 77030,

A 'Disruptive Science' Ready For Commercial Development - Gene Therapy

2012-01-26T11:18:00.000+01:00

Mary Ann Liebert, Inc./Genetic Engineering News. (2012, January 26). "A 'Disruptive Science' Ready For Commercial Development - Gene Therapy." Medical News Today. "The time for commercial development of gene therapy has come. Patients with diseases treatable and curable with gene therapy deserve access to the technology, which has demonstrated both its effectiveness and feasibility"

The promise of induced pluripotent stem cells in research and therapy

2012-01-23T09:44:00.000+01:00

Nature 481, 295–305 (19 January 2012), doi:10.1038/nature10761 Daisy A. Robinton & George Q. Daley Keywords: stem-cell biology, reprogramming technology, pluripotency, somatic cells, personalized regenerative cell therapies. Supplementary Table (128K)

The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model

2012-01-23T09:27:00.000+01:00

Neurobiology of Disease, Available online 20 January 2012, http://dx.doi.org/10.1016/j.nbd.2012.01.002 Vahid Ezzatizadeh a,Ricardo Mouro Pinto b, Chiranjeevi Sandi a, Madhavi Sandi a, Sahar Al-Mahdawi a, Hein te Riele c, Mark A. Pook a. a Division of Biosciences, School of Health Sciences and Social Care, Brunel University, Uxbridge, UB8 3PH, UK b Molecular Neurogenetics Unit, Center for Human

Oxidative stress induces mitochondrial fragmentation in frataxin-deficient cells

2012-01-21T19:16:00.000+01:00

Biochemical and Biophysical Research Communications, Available online 16 January 2012, In Press, Accepted Manuscript. http://dx.doi.org/10.1016/j.bbrc.2012.01.022 Sophie Lefevre a, b, 1, Dominika Sliwa a, 1, Pierre Rustin c, d, Jean-Michel Camadro a, Renata Santos a. a Mitochondria, Metals and Oxidative Stress Laboratory, Institut Jacques Monod, CNRS-Université Paris-Diderot, Sorbonne Paris Cité

Hippotherapy: An Intervention to Habilitate Balance Deficits in Children With Movement Disorders--A Clinical Trial.

2012-01-21T18:29:00.000+01:00

Phys Ther. 2012 Jan 12, Published online before print, doi: 10.2522/ptj.20110081 Silkwood-Sherer DJ, Killian CB, Long TM, Martin KS. D.J Silkwood-Sherer, PT, DHS, HPCS, Graduate Program in Physical Therapy, Herbert H. and Grace A. Dow College of Health Professions, 1202 Health Professions Bldg, Central Michigan University, Mt Pleasant, MI 48859 (USA). Keywords: hippotherapy, children with

Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cells

2012-01-20T14:04:00.000+01:00

Nucl. Acids Res. (2012) doi: 10.1093/nar/gks021. Gurangad S. Chandok 1, Mayank P. Patel 1, Sergei M. Mirkin 2 and Maria M. Krasilnikova Department of Biochemistry and Molecular Biology, Penn State University, University Park, PA 16802 and 2Department of Biology, Tufts University. Keyword: Friedreich's ataxia (FRDA),(GAA)n repeat, age-dependent instability, episomal DNA replication, chromatin.

Reactive Oxygen Species and Aging in Caenorhabditis elegans: Causal or Casual Relationship?

2012-01-19T10:05:00.000+01:00

Jeremy Michael Van Raamsdonk and Siegfried Hekimi and. Antioxidants & Redox Signaling. December 15, 2010, 13(12): 1911-1953. doi:10.1089/ars.2010.3215. Keywords: reactive oxygen species (ROS), aging, Caenorhabditis elegans, frh-1-frataxin

S-Glutathionylation: From Molecular Mechanisms to Health Outcomes

2012-01-19T09:56:00.000+01:00

Antioxidants & Redox Signaling. July 1, 2011, 15(1): 233-270. doi:10.1089/ars.2010.3540. Ying Xiong, Joachim D. Uys, Kenneth D. Tew, and Danyelle M. Townsend. KEYWORDS: Redox homeostasis, human disease pathologies, glutathione, Friedreich's ataxia

Mechanisms of Altered Redox Regulation in Neurodegenerative Diseases—Focus on S-Glutathionylation

2012-01-19T09:43:00.001+01:00

Antioxidants & Redox Signaling. null, Vol. 0, No. 0,-Not available-, ahead of print. doi:10.1089/ars.2011.4119. Elizabeth A. Sabens Liedhegner 1, Xing-Huang Gao 2, and John J. Mieyal 2,3 1Neuroscience Research Center, Medical College of Wisconsin, Milwaukee, Wisconsin. 2Department of Pharmacology, Case Western Reserve University, School of Medicine, Cleveland, Ohio. 3Louis B. Stokes Veterans

The European Hospital Exemption Clause—New Option for Gene Therapy?

2012-01-17T09:28:00.000+01:00

Human Gene Therapy. Christian J. Buchholz, Ralf Sanzenbacher, and Silke Schüle. January 2012, 23(1): 7-12. doi:10.1089/hum.2011.2529. Keywords: Gene-therapy medicinal products, authorized clinical trials, centralized procedure, European Medicines Agency, Regulation (EC) No. 1394/2007, cell-therapy products, hospital exemption, exclusive professional responsibility.

Friedreich-Like Ataxia as an Initial Manifestation of Mitochondrial DNA 8344A>G Mutation.

2012-01-14T17:07:00.000+01:00

J Child Neurol. 2012 Jan 12. Chevallier JA, Koenig MK. Department of Pediatrics, Division of Child and Adolescent Neurology, University of Texas Health Science Center, Houston, TX, USA. Keywords: subacute onset of ataxia, acute-onset cardiac and pulmonary failure, Magnetic resonance imaging (MRI),nerve conduction velocities, electromyography, sensorimotor axonal neuropathy, Friedreich ataxia,

Iron Intake In Teen Years Can Impact Brain In Later Life

2012-01-14T11:27:00.000+01:00

University of California - Los Angeles. (2012, January 13). "Iron Intake In Teen Years Can Impact Brain In Later Life." Medical News Today "The findings may aid future studies of how iron transport affects brain function, development and the risk of neurodegeneration." Reference: Brain structure in healthy adults is related to serum transferrin and the H63D polymorphism in the HFE gene.

DEVELOPPEMENT D’UN SCORE DE STABILITE CHEZ LES PERSONNES PRESENTANT DES PATHOLOGIES D’ORIGINE NEUROLOGIQUE ENTRAINANT DES TROUBLES DE LA MARCHE ET/OU DE L’EQUILIBRE

2012-01-12T21:19:00.000+01:00

THESE, Pour l’obtention du grade de DOCTEUR DE L’UNIVERSITE PARIS-SUD 11 Arnaud GOUELLE Soutenue le 13 décembre 2011 CHAPITRE VI - Apport du GVI dans l’évaluation de l’ataxie de Friedreich 155 VI.1 Préambule 155 VI.2 Introduction 157 VI.3 Méthode 158 VI.4 Résultats 160 VI.5 Discussion 163

Movement disorders: Genetic and epigenetic factors determine the clinical course in Friedreich ataxia

2012-01-11T14:10:00.000+01:00

Nat Rev Neurol. 2012 Jan 10., doi:10.1038/nrneurol.2011.215 Katie Kingwell Keywords: Friedreich ataxia (FRDA, GAA repeat expansion, frataxin gene (FXN), DNA methylation.

China stops unapproved stem cell treatments

2012-01-10T10:18:00.000+01:00

(Reuters) - BEIJING | Tue Jan 10, 2012 China has ordered a halt to all unapproved stem cell treatments and clinical trials, state media reported on Tuesday, as Beijing seeks to rein in the largely untested stem cell therapies now on offer across the country. "Health providers could no longer charge money for experimental stem cell applications"

Solving the Structure of a Protein That Shows Promise as a DNA-Targeting Molecule for Gene Correction, Therapy

2012-01-09T09:37:00.000+01:00

ScienceDaily, 5 Jan. 2012. Web. 9 Jan. 2012. Fred Hutchinson Cancer Research Center. "Solving the structure of a protein that shows promise as a DNA-targeting molecule for gene correction, therapy." ScienceDaily (Jan. 5, 2012) — Researchers at Fred Hutchinson Cancer Research Center have solved the three-dimensional structure of a newly discovered type of gene-targeting protein that has shown to

Chromatin changes in the development and pathology of the Fragile X-associated Disorders and Friedreich ataxia

2012-01-07T12:49:00.001+01:00

Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms In Press, Accepted Manuscript, doi:10.1016/j.bbagrm.2011.12.009 Daman Kumari, Rachel Lokanga, Dmitry Yudkin, Xiao-Nan Zhao, Karen Usdin Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda Keywords:

Conference about the research project on Friedreich Ataxia given by Dr. Jacques P.Tremblay

2012-01-07T02:58:00.002+01:00

"Development of a potential therapy for Friedreich ataxia" This research project is directed by Dr. Jacques P. Tremblay, Ph.D., professor in the Department of Molecular Medicine of Laval University in Quebec and main investigator at the Research Centre of Quebec City (CHUL).

New Clinical Trial in Friedreich's Ataxia in Italy

2012-01-06T13:02:00.000+01:00

FARA, January 5, 2012 -- The Italian Health Ministry and the Ethics Committee of the San Luigi Hospital in Torino, Italy, have given investigators at the hospital approval to initiate a Phase I clinical trial of a new drug designed specifically to treat Friedreich's ataxia. After additional study site preparations, this Phase I trial will test the Repligen drug, known as RG2833, in patients with

Erythropoietin in friedreich ataxia: No effect on frataxin in a randomized controlled trial

2012-01-04T17:01:00.000+01:00

Movement Disorder, Article first published online: 4 JAN 2012 | DOI: 10.1002/mds.24066 Caterina Mariotti, Roberto Fancellu, Serena Caldarazzo, Lorenzo Nanetti, Daniela Di Bella, Massimo Plumari, Giuseppe Lauria, Maria D. Cappellini, Lorena Duca, Alessandra Solari and Franco Taroni Results: Erythropoietin treatment was safe and well tolerated, but did not result in any significant hematological

Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target

2012-01-02T19:00:00.003+01:00

Nucleic Acids Research, 2012, Vol. 40, No. 1 11–26 doi:10.1093/nar/gkr729 Wlodzimierz J. Krzyzosiak, Krzysztof Sobczak, Marzena Wojciechowska, Agnieszka Fiszer, Agnieszka Mykowska and Piotr Kozlowski. Laboratory of Cancer Genetics, Institute of Bioorganic Chemistry, Polish Academy of sciences, Noskowskiego, 12/14, 61-704 Poznan, Poland Over 20 different genes containing unstable TNRs have been

Changes in mitochondrial glutathione levels and protein thiol oxidation in ∆yfh1 yeast cells and the lymphoblasts of patients with Friedreich's ataxia.

2011-12-29T01:30:00.000+01:00

Biochim Biophys Acta. 2011 Nov 11;1822(2):212-225 Bulteau AL, Planamente S, Jornea L, Dur A, Lesuisse E, Camadro JM, Auchère F. CRICM-INSERM-UMRS975, CNRS UMR 7225-UPMC, Hôpital de la Salpétrière, Physiopathologie cellulaire et moléculaire des maladies mitochondriales, 91, bd de l'hôpital, salle 336, 75651 Paris Cedex 13, France. Keywords: Friedreich's ataxia (FRDA), frataxin, iron, iron-sulfur

Small Molecules Mimicking Key Brain Growth Factor Identified By Study

2011-12-28T00:21:00.001+01:00

Stanford University Medical Center. The patents for these four compounds are held by the University of North Carolina and UCSF, where Longo worked before coming to Stanford. While at UNC, Longo founded PharmatrophiX, a company focused on the commercial development of small molecules similar to and including those identified in this study. Related to: The neurotrophic factor BDNF reduces

DEFINITION OF THE LANDSCAPE OF CHROMATIN STRUCTURE AT THE FRATAXIN GENE IN FRIEDREICH’S ATAXIA

2011-12-22T20:47:00.000+01:00

UT GSBS Dissertations and Theses, 12/2011 Keywords: Epigenetics, Chromatin Structure, Histone Modification, Frataxin, FRDA, Neurodegenerative Disease, Repetitive DNA, Triplet repeat, Repeat Diseases Full text PDF

Orphan designation interferon gamma for the treatment of Friedreich’s ataxia.

2011-12-21T02:05:00.000+01:00

On 9 December 2011, orphan designation (EU/3/11/935) was granted by the European Commission to Prof. Roberto Testi, Italy, for interferon gamma for the treatment of Friedreich’s ataxia.

Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: Comparison with studies in muscle biopsy

2011-12-21T01:22:00.000+01:00

Molecular Genetics and Metabolism, In Press, Corrected Proof, doi:10.1016/j.ymgme.2011.11.193 Michael J. Goldenthal a, b, Teddy Kuruvilla b, Shirish Damle b, Leon Salganicoff b, Sudip Sheth b, Nidhi Shah b, Harold Marks a, b, Divya Khurana a, Ignacio Valencia a, Agustin Legido a. a Section of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College

Differentiating profiles of speech impairments in Friedreich's ataxia: a perceptual and instrumental approach

2011-12-16T17:42:00.000+01:00

International Journal of Language & Communication Disorders. doi: 10.1111/j.1460-6984.2011.00078.x Folker, J. E., Murdoch, B. E., Rosen, K. M., Cahill, L. M., Delatycki, M. B., Corben, L. A. and Vogel, A. P. Keywords: dysarthria, neurodegenerative diseases, motor speech disorders, Friedreich's ataxia (FRDA), speech sample using an interval rating scale, instrumental measures, respiratory,

Efficacy Study of Epoetin Alfa in Friedreich Ataxia (FRIEMAX)

2011-12-16T17:34:00.000+01:00

ClinicalTrials.gov Identifier: NCT01493973 Sponsor: Federico II University Collaborators: Friedreich's Ataxia Research Alliance (FARA) Associazione Italiana per la lotta alle Sindromi Atassiche (AISA) Information provided by (Responsible Party): Alessandro Filla, Federico II University "This study is not yet open for participant recruitment."

Pharmacodynamic studies of a histone deacetylase inhibitor in Friedreich’s ataxia

2011-12-16T01:12:00.002+01:00

EU Clinical Trials Register EudraCT Number: 2011-002744-27 Sponsor's Protocol Code Number: CR01849 National Competent Authority: UK - MHRA Clinical Trial Type: EEA CTA Trial Status: Ongoing Date on which this record was first entered in the EudraCT database: 2011-09-16 Ataxia UK, Lay summary of Festenstein's hdaci study

HSC20 interacts with Frataxin and is involved in iron-sulfur cluster biogenesis and iron homeostasis

2011-12-15T19:55:00.000+01:00

Hum. Mol. Genet. (2011) doi: 10.1093/hmg/ddr582 Yuxi Shan and Gino Cortopassi Molecular Biosciences, 1120 Haring Hall, University of California, Davis, CA 95616 Keywords: Friedreich’s ataxia (FRDA), frataxin, mitochondrial iron-sulfur cluster (ISC) biosynthesis, ISC assembly machinery, mitochondrial chaperone HSC20, iron-dependent, ISCU/Nfs1, GRP75 ISC chaperone.

Improved Histone Deacetylase Inhibitors as Therapeutics for the Neurodegenerative Disease Friedreich’s Ataxia: A New Synthetic Route

2011-12-14T13:07:00.000+01:00

Pharmaceuticals 2011, 4, 1578-1590; doi:10.3390/ph4121578 (doi registration under processing) Chunping Xu 1, Elisabetta Soragni 1, Vincent Jacques 2, James R. Rusche 2 and Joel M. Gottesfeld 1. 1 Department of Molecular Biology, The Scripps Research Institute, 10550 N. Torreys Pines Road, La Jolla, CA 92037, USA 2 Repligen Corporation, 41 Seyon Street, Waltham, MA 02453, USA OPEN ACCESS FULL

Grant Award: Electrical activity in a stem cell model of Friedreich Ataxia.

2011-12-13T21:17:00.001+01:00

The Brain Foundation. Australian Brain Research - Dr Karina Needham from the University of Melbourne received the Friedreich Ataxia Grant Award for her project title: Electrical activity in a stem cell model of Friedreich Ataxia.

Epigenetic Enhancement of BDNF Signaling Rescues Synaptic Plasticity in Aging

2011-12-12T22:19:00.000+01:00

The Journal of Neuroscience, 7 December 2011, 31(49): 17800-17810; doi: 10.1523/JNEUROSCI.3878-11.2011 Yan Zeng, Miao Tan, Jun Kohyama, Marissa Sneddon, Joseph B. Watson, Yi E. Sun, and Cui-Wei Xie Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California 90024 Keywords: Aging-related cognitive

Substantia nigra hypoechogenicity in friedreich ataxia

2011-12-10T00:17:00.000+01:00

Movement Disorders, Article first published online: 9 DEC 2011 | DOI: 10.1002/mds.23989 Heike Stockner MD, Martin Sojer MD, Sascha Hering MD, Wolfgang Nachbauer MD, Klaus Seppi MD, Christoph Schmidauer MD, Werner Poewe MD, Sylvia

Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells

2011-12-09T01:57:00.000+01:00

J. Biol. Chem. jbc.M111.274415. First Published on September 19, 2011, doi:10.1074/jbc.M111.274415 Rachael A. Vaubel, Pierre Rustin, and Grazia Isaya DLD dimer interface mutations may accelerate frataxin turnover via an unknown mechanism The role of DLD proteolytic activity remains unclear, and will require a better understanding of conditions that accelerate FXN turnover and the

Structure-function study of cellular iron chemistry

2011-12-07T19:01:00.001+01:00

OhioLINK ETD Center, Document number: osu1245414801 Huang, Jia Keywords: iron-sulfur clusters, frataxin, ferrous iron, scaffold protein human ISU, cytosolic aconitase, IRP1, HscB, ITC.

The yeast metacaspase is implicated in oxidative stress response in frataxin-deficient cells

2011-12-07T18:46:00.000+01:00

FEBS Letters - 07 December 2011 (10.1016/j.febslet.2011.12.002) Sophie Lefevre, Dominika Sliwa, Françoise Auchère, Caroline Brossas, Christoph Ruckenstuhl, Nicole Boggetto, Emmanuel Lesuisse, Frank Madeo, Jean-Michel Camadro, Renata Santos Keywords: Friedreich ataxia, mitochondrial frataxin, iron-sulfur cluster, heme biosynthesis, antioxidant therapies, hydrogen peroxide, metacaspase.

Posttranslational Modification of Cysteine in Redox Signaling and Oxidative Stress – Focus on S-Glutathionylation

2011-12-04T22:28:00.000+01:00

Antioxidants & Redox Signaling. null, Vol. 0, No. ja Prof. John J. Mieyal, Case Western Reserve University, School of Medicine, Pharmacology, Cleveland, Ohio, United States. Boon Chock, NHLBI, National Institutes of Health, Laboratory of Biochemistry, Bethesda, Maryland, United States. Keywords: Reactive oxygen species (ROS), reactive nitrogen species (RNS), cellular signaling pathways,

DiseaseMeth: a human disease methylation database

2011-12-03T01:58:00.000+01:00

Nucl. Acids Res. (2011) doi: 10.1093/nar/gkr1169 Jie Lv, Hongbo Liu, Jianzhong Su, Xueting Wu, Hui Liu, Boyan Li, Xue Xiao, Fang Wang, Qiong Wu, and Yan Zhang OPEN ACCESS Keywords: DNA methylation, epigenetic modification, genomic regulation, disease biomarkers, DNA methylation repository, DiseaseMeth, human disease methylation database, gene–disease relationship. FULL TEXT PDF

Normal left ventricular ejection fraction and mass but subclinical myocardial dysfunction in patients with Friedreich's ataxia.

2011-12-01T14:22:00.000+01:00

Eur J Echocardiogr. 2011 Nov 28. Dedobbeleer C, Rai M, Donal E, Pandolfo M, Unger P. Department of Cardiology, Erasme Hospital, Université Libre de Bruxelles, 808 Rte de Lennik, Brussels 1070, Belgium. Keywords: Myocardial involvement, Friedreich's ataxia (FRDA), iron deposits, diffuse fibrosis, focal necrosis. There is evidence of morphological and functional abnormalities in FRDA patients

Specialized Function of Yeast Isa1 and Isa2 Proteins in the Maturation of Mitochondrial [4Fe-4S] Proteins

2011-11-26T00:40:00.000+01:00

J. Biol. Chem. 2011 286: 41205-41216. First Published on October 10, 2011, doi:10.1074/jbc.M111.296152 Ulrich Mühlenhoff, Nadine Richter, Ophry Pines, Antonio J. Pierik, and Roland Lill Full text PDF

FXN methylation predicts expression and clinical outcome in friedreich ataxia

2011-11-25T20:13:00.000+01:00

Annals of Neurology, Accepted manuscript online: 25 NOV 2011 08:37AM EST | DOI: 10.1002/ana.22671 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,

A TAT-Frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich’s Ataxia mouse model

2011-11-23T17:14:00.000+01:00

Hum. Mol. Genet. (2011) doi: 10.1093/hmg/ddr554 Piyush M. Vyas, Wendy J. Tomamichel, P. Melanie Pride, Clifford M. Babbey, Qiujuan Wang, Jennifer Mercier, Elizabeth M. Martin, and R. Mark Payne Keywords:Friedreich’s Ataxia (FRDA), frataxin, iron-sulfur (Fe-S) cluster, progressive ataxia, fatal cardiomyopathy, TAT-Frataxin (TAT-FXN) fusion protein, reduced caspase 3 activation, iron oxidant

Cardiomyopathy in Friedreich’s Ataxia

2011-11-23T11:11:00.000+01:00

Acta Neurologica Belgica, N° 3 (Vol. 111/3) p.183-187, 2011. Faisal Rahman and Massimo Pandolfo The John Radcliffe Hospital, Oxford, UK; Service de Neurologie, Hôpital Erasme - Université Libre de Bruxelles, Brussels, Belgium Keywords: Friedreich’s ataxia (FRDA), spinocerebellar degeneration, cardiomyopathy, frataxin, iron, iron-sulphur clusters, oxidative stress.

Exploring frataxin function.

2011-11-19T20:29:00.000+01:00

IUBMB Life. 2011 Nov 17. doi: 10.1002/iub.577. [Epub ahead of print] Busi MV, Gomez-Casati DF. Centro de Estudios Fotosintéticos y Bioquímicos (CEFOBI-CONICET), Universidad Nacional de Rosario, Suipacha 531, 2000, Rosario, Argentina and Instituto de Investigaciones Biotecnológicas (IIB-INTECH), Universidad Nacional de General San Martín (UNSAM), Argentina. Keywords: Frataxin, nuclear-encoded

Ophthalmic features of Friedreich ataxia

2011-11-18T20:36:00.000+01:00

Eye , (18 November 2011) | doi:10.1038/eye.2011.291 Clinical Study S Noval, I Contreras, I Sanz-Gallego, R K Manrique and J Arpa "The study show that the visual pathway is affected in FRDA. However, in most patients there is no significant visual impairment" Keywords: ocular abnormalities,Friedreich ataxia (FRDA), prospective cohort, extensive ophthalmologic examination, low-contrast Sloan

Primary and Secondary Drug Screening Assays for Friedreich Ataxia.

2011-11-17T16:23:00.000+01:00

J Biomol Screen. 2011 Nov 15. [Epub ahead of print] Cotticelli MG, Rasmussen L, Kushner NL, McKellip S, Sosa MI, Manouvakhova A, Feng S, White EL, Maddry JA, Heemskerk J, Oldt RJ, Surrey LF, Ochs R, Wilson RB. Keywords: Friedreich ataxia (FRDA), neuro- and cardiodegenerative disorder, frataxin, decreased ISC assembly, mitochondrial iron accumulation, increased oxidative stress, tetrazolium dye

Towards a modern definition of vitamin E– evidence for a quinone hypothesis

2011-11-17T09:25:00.000+01:00

Bioorganic & Medicinal Chemistry Letters, In Press, Accepted Manuscript, doi:10.1016/j.bmcl.2011.10.117 William D. Shrader a, Akiko Amagata a, Adam Barnes a, Andrew Hinman a, Orion Jankowski a, Edgar Lee a, Viktoria Kheifets a, Ryo Komatsuzaki a, Paul Mollard a, Katsuyuki Murase a, Patrice Rioux c, Kieron Wesson a, Guy Miller a, b a Edison Pharmaceuticals, Inc., 350 North Bernardo Avenue,

New orphan medicinal product designation for Friedreich's Ataxia

2011-11-15T21:23:00.000+01:00

10 October 2011, EMA/COMP/811210/2011, Human Medicines Development and Evaluation, Monthly report, The Committee for Orphan Medicinal Products held its 127th plenary meeting on 5-7 October 2011. Interferon gamma for treatment of Friedreich’s ataxia, Prof. Roberto Testi.

Hepatic mitochondrial dysfunction in Friedreich Ataxia

2011-11-15T21:16:00.000+01:00

BMC Neurology 2011, 11:145 doi:10.1186/1471-2377-11-145 OPEN ACCESS Sven H Stüwe1, Oliver Goetze2,3, Larissa Arning4, Matthias Banasch2, Wolfgang E Schmidt2, Ludger Schöls5, 6,Carsten Saft1 1 Department of Neurology, Ruhr-University, St. Josef-Hospital, Bochum, Germany 2 Department of Internal Medicine I, Ruhr-University, St. Josef-Hospital, Bochum, Germany 3 Division of Gastroenterology and

Changes in mitochondrial glutathione levels and protein thiol oxidation in Δyfh1 yeast cells and the lymphoblasts of patients with Friedreich ataxia

2011-11-12T02:12:00.000+01:00

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, Available online 11 November 2011, doi:10.1016/j.bbadis.2011.11.003 A.L. Bulteau, S. Planamente, L. Jornea, A. Dur, E. Lesuisse, J.M. Camadro, F. Auchère Keywords: Friedreich's ataxia; glutathione; iron; mitochondria; thiol oxidation; protein glutathionylation

DNA TRIPLEX STRUCTURES IN HUMAN DISEASE

2011-11-11T21:21:00.001+01:00

Rajeswari R. Moganty Department of Biochemistry, All India Institute of Medical Sciences, New Delhi-110029 KEYWORS: “unusual” DNA structure, human hereditary disorders, the triplet repeat expansion (TRE), Friedreich's ataxia, GAA repeats, Frataxin gene.

Analysis of Echocardiograms in a Large Heterogeneous Cohort of Patients With Friedreich Ataxia

2011-11-11T10:04:00.000+01:00

The American Journal of Cardiology, , Available online 10 November 2011, doi:10.1016/j.amjcard.2011.09.025 Sean R. Regner, Sarah J. Lagedrost, Ted Plappert, Erin K. Paulsen, Lisa S. Friedman, Madeline L. Snyder, Susan L. Perlman, Katherine D. Mathews, George R. Wilmot, Kimberly A. Schadt, Martin St. John Sutton, David R. Lynch Keywords: Friedreich ataxia (FA), cardiomyopathy, echocardiograms,

Annual change in Friedreich's ataxia evaluated by the scale for the assessment and rating of ataxia (SARA) is independent of disease severity

2011-11-11T01:19:00.000+01:00

Movement Disorders. doi: 10.1002/mds.23879, Article first published online: 10 NOV 2011 Marelli, C., Figoni, J., Charles, P., Anheim, M., Tchikviladze, M., Vincitorio, C.-M., du Montcel, S. T., Brice, A., Golmard, J. L. and Dürr, A. "In future therapeutic trials no patient stratification is globally required." Keywords: Friedreich's ataxia, SARA, clinical rating scale, disease progression

MR spectroscopy and atrophy in Gluten, Friedreich’s and SCA6 ataxias

2011-11-10T22:07:00.000+01:00

Acta Neurologica Scandinavica, Article first published online: 10 NOV 2011 | DOI: 10.1111/j.1600-0404.2011.01620.x M. Hadjivassiliou, L. I. Wallis, N. Hoggard, R. A. Grünewald, P. D. Griffiths and I. D. Wilkinson Keywords: movement disorders; neuroimaging; SCA6; gluten ataxia; Friedreich’s ataxia; MR spectroscopy

Initial Experience in the Treatment of Inherited Mitochondrial Disease with EPI-743

2011-11-09T09:26:00.000+01:00

Molecular Genetics and Metabolism, In Press, Accepted Manuscript, doi:10.1016/j.ymgme.2011.10.009 Gregory M. Enns a, Stephen L. Kinsman b, Susan L. Perlman c, Kenneth M. Spicer d, Jose E. Abdenur e, Bruce H. Cohen f, Akiko Amagata g, Adam Barnes g, Viktoria Kheifets g, William D. Shrader g, Martin Thoolen g, Francis Blankenberg h, Guy Miller g i. a Department of Pediatrics, Division of Medical

Pathophysiology of Friedreich's Ataxia Includes Alterations of Thiol Antioxidants, and Screening Based On This Principle Identifies Small Molecule Drugs With Antioxidant and Frataxin Induction Mechanisms

2011-11-09T00:54:00.000+01:00

Free Radical Biology and Medicine, Volume 51, Supplement, 1 November 2011, Pages S85 SFRBM's 18th Annual Meeting: Program and abstracts. doi:10.1016/j.freeradbiomed.2011.10.395 Gino Cortopassi, Robert Schoenfeld, Yuxi Shan, Sunil Sahdeo University of California, Davis No abstrac You can find a similar paper of the same authors in the Strasbourg FARA conference summary. http://www.curefa.org/

Monosodium Luminol could be useful Friedreich’s Ataxia.

2011-11-08T09:22:00.001+01:00

Bach Pharma, Inc. and Destum Partners, Inc. NORTH ANDOVER, Massachusetts – October 31, 2011, "Approvals are in place to annually treat over a half million cancer patients in the CIS countries alone, a very attractive market opportunity especially for an Eastern European partner. In CNS related diseases, GVT® is the subject of a phase I/II clinical study to treat ataxia-telangiectasia (A-T), a

Stem cell. Transplant More Effective When Stem Cells Reprogrammed To A More Basic Form

2011-11-06T13:27:00.000+01:00

Wiley-Blackwell. (2011, November 6). "Transplant More Effective When Stem Cells Reprogrammed To A More Basic Form." Medical News Today. The results confirm that de-differentiation is a workable technique for reengineering cells to an earlier, more primitive state but reprogrammed to have increased cell survival rates and therefore their potential for clinical use. References:

A pilot trial of deferiprone for neurodegeneration with brain iron accumulation

2011-11-05T11:07:00.000+01:00

haematol November 1, 2011 vol. 96 no. 11 1708-1711, doi: 10.3324/haematol.2011.043018 Giovanni Abbruzzese,Giovanni Cossu, Manuela Balocco, Roberta Marchese, Daniela Murgia, Maurizio Melis, Renzo Galanello, Susanna Barella, Gildo Matta, Uberto Ruffinengo, Ubaldo Bonuccelli and Gian Luca Forni. FULL TEXT PDF

Pharmacology: New methods to permeabilize the blood–brain barrier

2011-11-05T00:58:00.000+01:00

Nature Reviews Neurology 7, 597 (November 2011) | doi:10.1038/nrneurol.2011.161 Katy Malpass. Keywords: animal models, tight vascular endothelial junctions, blood–brain barrier (BBB), drug delivery to the brain, neurological disorders.

Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders

2011-11-04T09:43:00.001+01:00

Molecular Therapy (2011); 19 11, 1971–1980. doi:10.1038/mt.2011.157 Adam K Bevan1,2, Sandra Duque3, Kevin D Foust1, Pablo R Morales4, Lyndsey Braun1, Leah Schmelzer1, Curtis M Chan5, Mary McCrate1,6, Louis G Chicoine1,6, Brian D Coley7, Paul N Porensky3,8, Stephen J Kolb3,9, Jerry R Mendell1,6,9, Arthur HM Burghes2,3 and Brian K Kaspar1,2,3,6,10 1Center for Gene Therapy, The Research Institute

Specific Alterations of Carbohydrate Metabolism Are Associated With Hepatocarcinogenesis in Mitochondrially Impaired Mice

2011-11-03T19:55:00.000+01:00

Hum. Mol. Genet. (2011) doi: 10.1093/hmg/ddr499 René Thierbach, Simone Florian, Katharina Wolfrum, Anja Voigt, Gunnar Drewes, Urte Blume, Peter Bannasch, Michael Ristow, Pablo Steinberg Keywords: Friedreich's ataxia, AlbFxn-/- mice, ATP, carbohydrate metabolism, Frataxin, gene disruption, glucose-6-phosphate, glucose transport, glycogen, glycolysis, mitochondria.

Friedreich Ataxia - Pipeline Review, H2 2011

2011-11-02T10:58:00.000+01:00

Published by Global Markets Direct on Oct 26, 2011 , 54 pages This report provides an overview on the therapeutic development for Friedreich Ataxia, it show the Friedreich Ataxia therapeutic pipeline, with latest updates, and late-stage and discontinued projects.

The Role of Mitochondrial Dysfunction in the Pathogenesis of Friedreich's Ataxia

2011-11-01T01:21:00.000+01:00

Egypt J. Neurol. Psychiat. Neurosurg. July 2011 Vol. 48 3 : 229 - 234 Hasan G. Nassar,Wael A. Fadel,Wafaa Ibrahim,Wafik S Bahnasy Keywords: Friedreich's ataxia, Glutathione, Mitochondrial Complexes. Full text pdf

Evaluation of Myocardial Motion in Friedreich Ataxia Patients and Healthy Volunteers by High Temporal and Spatial Resolution MRI Tissue Phase-mapping Imaging

2011-10-30T02:16:00.000+01:00

Oligomerization propensity and flexibility of yeast frataxin studied by X-ray crystallography and small-angle X-ray scattering

2011-10-28T21:36:00.000+02:00

Journal of Molecular Biology, In Press, Accepted Manuscript, doi:10.1016/j.jmb.2011.10.034 Christopher A.G. Söderberg a, [1], Alexander V. Shkumatov b, 2, Sreekanth Rajan a, Oleksandr Gakh c, Dmitri I. Svergun b, Grazia Isaya c,, Salam Al-Karadaghi a. a Center for Molecular Protein Science, Institute for Chemistry and Chemical Engineering, Lund University, PO Box 124, SE-221 00 Lund, Sweden b

The cerebellar cognitive profile

2011-10-28T17:23:00.000+02:00

Brain (2011) first published online October 27, 2011 doi:10.1093/brain/awr266 Anna M. Tedesco, Francesca R. Chiricozzi, Silvia Clausi, Michela Lupo, Marco Molinari, and Maria G. Leggio Keywords: cerebellar role in non-motor functions, cerebellar cognitive affective syndrome, cerebellar damage, ataxia, cerebellum, cognition.

Pioglitazone and bladder cancer

2011-10-28T09:34:00.002+02:00

In France, is currently running Friedreich's Ataxia clinical trial with Pioglitazone The Lancet, Volume 378, Issue 9802, Pages 1543 - 1544, 29 October 2011 Dominique Hillaire-Buys a bEmail Address, Jean-Luc Faillie b c, Jean-Louis Montastruc d e a CHRU Montpellier, Department of Medical Pharmacology and Toxicology, Lapeyronie Hospital, 34295 Montpellier, France b Faculty of Medicine, University

Genes en lugar de fármacos

2011-10-24T01:26:00.000+02:00

Interesting TV report on gene therapy (Spanish language)

Hidden Administration of Drugs

2011-10-22T11:23:00.000+02:00

Clinical Pharmacology & Therapeutics 90, 651-661 (November 2011) | doi:10.1038/clpt.2011.206 F Benedetti, E Carlino and A Pollo Keywords: placebo-controlled trials, dummy treatment (placebo), psychological component, psychology and pharmacodynamics.

An unusual atrial tachycardia in a patient with Friedreich ataxia

2011-10-22T00:16:00.000+02:00

Europace (2011) 13 (11): 1660-1661. doi: 10.1093/europace/eur156 Justin M.S. Lee1,*, Ian Turner1, Ajit Agarwal2 and Simon P. Fynn1 1Department of Cardiology, Papworth Hospital, Cambridge CB23 3RE, UK 2Department of Cardiology, West Suffolk Hospital, Bury St Edmunds, IP33 2QZ, UK Keywords: atrial tachycardia, Friedreich ataxia, arrhythmi, linear ablation.

Anaesthesia for a patient with Friedreich's ataxia.

2011-10-22T00:10:00.000+02:00

Indian J Anaesth. 2011 Jul;55(4):418-20. Ganesan I. Department of Anaesthesiology, SRM Medical College Hospital and Research Centre, Chennai, Tamil Nadu, India. NO ABSTRAC

Inactivation of mitochondrial aspartate aminotransferase contributes to the respiratory deficit of yeast frataxin-deficient cells

2011-10-20T17:34:00.000+02:00

Biochem. J. (2011) Immediate Publication, doi:10.1042/BJ20111574 Dominika Sliwa, Julien Dairou, Jean-Michel Camadro and Renata Santos Institut Jacques Monod, Paris, France Keywords: Friedreich ataxia, frataxin, iron homeostasis, hypersensitivity to oxidants, NAD+ and NADH, malate-aspartate NADH shuttle, mitochondrial aspartate aminotransferase (Aat1), mitochondrial acetylated proteins,

Physiological oxygen level is critical for modeling neuronal metabolism in vitro

2011-10-17T15:31:00.000+02:00

Zhu, J., Aja, S., Kim, E.-K., Park, M. J., Ramamurthy, S., Jia, J., Hu, X., Geng, P. and Ronnett, G. V. (2011), Journal of Neuroscience Research. doi: 10.1002/jnr.22765 KEYWORDS: In vitro models, nonphysiological conditions, ambient (21%) oxygen levels, physiological oxygen level (5% O2), glucose uptake, glycolysis, glucose oxidation , fatty acid oxidation, AMPK activity, intracellular ATP

Un score pour évaluer la stabilité au cours de la marche : méthodologie et validation chez le patient atteint d’ataxie de Friedreich

2011-10-14T00:08:00.000+02:00

A. Gouelle a, ⁎, F. Mégrot b, A. Yelnik c, G.-F. Penneçot d a Plate-forme d’analyse du mouvement, hôpital Robert-Debré, AP–HP, 48, boulevard Sérurier, 75019 Paris, France b Unité clinique d’analyse de la marche et du mouvement, CMPRE Bois-Larris, Lamorlaye, France c Service de médecine physique et de réadaptation, hôpital Fernand-Widal, Paris, France d Service de chirurgie orthopédique,

Friedreich ataxia: The vicious circle hypothesis revisited

2011-10-11T10:00:00.000+02:00

BMC Medicine 2011, 9:112doi:10.1186/1741-7015-9-112, Published: 11 October 2011 Aurelien Bayot, Renata Santos, Jean-Michel Camadro and Pierre Rustin OPEN ACCES Abstract (provisional) Friedreich ataxia, the most frequent progressive autosomal recessive disorder involving the central and peripheral nervous system, is mostly associated with an unstable expansion of GAA trinucleotide repeats in

Mesenchymal Stem Cells Restore Frataxin Expression and Increase Hydrogen Peroxide Scavenging Enzymes in Friedreich Ataxia Fibroblasts

2011-10-08T02:02:00.000+02:00

PLoS ONE 6(10): e26098. doi:10.1371/journal.pone.0026098 (2011) Kemp K, Mallam E, Hares K, Witherick J, Scolding N, et al. Multiple Sclerosis and Stem Cell Group, Institute of Clinical Neurosciences, School of Clinical Sciences, University of Bristol, Bristol, United Kingdom OPEN ACCESS Abstract Top Dramatic advances in recent decades in understanding the genetics of Friedreich ataxia (FRDA)

Rare Diseases and Orphan Products: Accelerating Research and Development (2011)

2011-10-07T01:08:00.000+02:00

THE NATIONAL ACADEMIES PRESS

Modeling neurological disorders by human induced pluripotent stem cells

2011-10-07T01:03:00.000+02:00

Journal of Biomedicine and Biotechnology, Received 11 July 2011; Accepted 6 October 2011 Academic Editor: Ken-ichi Isobe Tanut Kunkanjanawan, Rangsun Parnpai, and Parinya Noisa Received 11 July 2011; Accepted 6 October 2011Academic Editor: Ken-ichi Isobe Friedreich's Ataxia in pg 11. Fulltext PDF

Cell modelsof a neural lineage to study the effects of frataxin deficiency

2011-10-06T09:28:00.000+02:00

Herbert-Worch-Foundation A Spanish University developed cell models to study the effects of frataxin deficiency on human neuron-like cells. Companies from all countries interested in putting on the market a new neuronal cell model for Friedreich´s ataxia are sought. Current and Potential Domain of Application: Screening and testing of possible therapeutic compounds. Current Stage of

Les effets secondaires du principe de précaution

2011-10-04T01:14:00.001+02:00

Article in: Association française contre les myopathies (AFM) Blog (3/10/11) Health authorities (FDA, EMEA, national agencies, etc.) have the obligation to ensure our health and safety from new drugs or treatments, but sometimes look like they know very little about our disease, in this case, in France are blocking a compassionate use due a the very remote possibility of an side effect that can

What is the OX1?

2011-10-02T14:17:00.024+02:00

The OX1 or OXIGON (TM) is the Indole-3-propionic acid (IPA) (SYNONYMS: 3-Indolepropionic Acid, 1H-Indole-3-propanoic acid, beta-Indole-3-propionic acid, 3-(3-Indolyl)propanoic acid, 3-(3-Indolyl)propionic acid, 3-Indolyl propionic acid). It is a compound closely related to melatonin, but with a much more powerful antioxidant action. Has been previously proposed as a possible Alzheimer’s