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

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 cluster, oxidative stress, glutathione homeostasis, protein thiols, GSH/GSSG ratio, aconitase, KGDH.

Small Molecules Mimicking Key Brain Growth Factor Identified By Study

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 neurodegeneration induced by frataxin deficiency in neuronal cultures.

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

UT GSBS Dissertations and Theses, 12/2011

Keywords: Epigenetics, Chromatin Structure, Histone Modification, Frataxin, FRDA, Neurodegenerative Disease, Repetitive DNA, Triplet repeat, Repeat Diseases

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

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

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 of Medicine, Philadelphia, PA 19134, USA
b Mitochondrial Disease Laboratory, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA

Keywors: Respiratory chain, Mitochondrial disease, Buccal swab, biopsied skeletal muscle, mitochondrial enzyme activities, Buccal citrate synthase, mitochondrial frataxin levels, relatively high correlation (over 82%), non-invasive.

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

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, laryngeal, velopharyngeal, articulatory systems.

Efficacy Study of Epoetin Alfa in Friedreich Ataxia (FRIEMAX)

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

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

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

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

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

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

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 declines, synaptic plasticity, dendritic spines, reduced histone acetylation, brain-derived neurotrophic factor (Bdnf) gene, H3 and H4 acetylation, HDAC inhibition, 7,8-dihydroxyflavone, trkB, epigenetic or pharmacological.

Substantia nigra hypoechogenicity in friedreich ataxia

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

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 identification of additional natural substrates cleaved by DLD.

Structure-function study of cellular iron chemistry

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

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

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, peroxynitrite, cysteine residues, reversible protein-S-glutathionylation, mitochondria, cardiovascular system, neurodegenerative diseases.

DiseaseMeth: a human disease methylation database

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.

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

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 with normal LVEF and mass.