Iron metabolism and the role of iron in neurodegenerative disorders

Iron metabolism and the role of iron in neurodegenerative disorders; Maya Hadzhieva, Elmar Kirches, Christian Mawrin. Neuropathology and Applied Neurobiology
Accepted Article (Accepted, unedited articles published online and citable. The final edited and typeset version of record will appear in future.) DOI: 10.1111/nan.12096

KEYWORDS: neurodegeneration; ROS; iron; mitoferrin; TfR; DMT1; ferritin; frataxin; IscU

Late onset Friedreich ataxia: clinical description of a family in Argentina.

Late onset Friedreich ataxia: clinical description of a family in Argentina.; Perez Akly M and Alvarez F Medicina (B Aires). 2013;73(5):457-460.

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Unclassified cardiomyopathies in neuromuscular disorders.

Unclassified cardiomyopathies in neuromuscular disorders.. Finsterer J, Stöllberger; Wien Med Wochenschr 2013 Oct 24

Clinical Neurogenetics : Friedreich Ataxia

Clinical Neurogenetics : Friedreich Ataxia. Abigail Collins; Neurologic Clinics, Volume 31, Issue 4, November 2013, Pages 1095-1120. http://dx.doi.org/10.1016/j.ncl.2013.05.002

Modelling biochemical features of mitochondrial neuropathology

Modelling biochemical features of mitochondrial neuropathology ; Matthew J. Bird, David R. Thorburn, Ann E. Frazier; Biochimica et Biophysica Acta (BBA) - General Subjects, Available online 23 October 2013. http://dx.doi.org/10.1016/j.bbagen.2013.10.017

Keywords: Neuropathology; mitochondrial disease; mouse models; cybrids; iPS; OXPHOS; membrane potential; Ca2 +; reactive oxygen species; mitochondrial morphology; frataxin

The Nervous System Cytoskeleton under Oxidative Stress

The Nervous System Cytoskeleton under Oxidative Stress. Gardiner, J.; Overall, R.; Marc, J.; Diseases 2013, 1, 36-50.

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Fixing Frataxin: “Ironing Out” the Metabolic Defect in Friedreich's Ataxia

Fixing Frataxin: “Ironing Out” the Metabolic Defect in Friedreich's Ataxia. A. Anzovino, D. J. R. Lane, M. L.-H. Huang, D. R. Richardson, British Journal of Pharmacology, Accepted manuscript online: 21 OCT 2013, DOI: 10.1111/bph.12470

Keywords: Frataxin; Mitochondrial Iron Accumulation; Oxidative Stress; Autophagy; Cardio- and Neuro-Degeneration; Friedriech's Ataxia

Open-label Pilot Study of Interferon Gamma-1b (Actimmune™) for the Treatment of Friedreich Ataxia

Open-label Pilot Study of Interferon Gamma-1b (Actimmune™) for the Treatment of Friedreich Ataxia. ClinicalTrials.gov (October 17, 2013).

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease of children and adults for which there is presently no therapy. Recently, a study reported that interferon gamma (IFN-g) could raise frataxin protein levels in both cell lines derived from patients with Friedreich ataxia and in a mouse model with Friedreich ataxia. The present study will test whether IFN-g is safe, tolerated and potentially efficacious in a heterogeneous cohort of children with FRDA.

Sponsor: Children's Hospital of Philadelphia
Collaborators: Friedreich Ataxia Research Alliance (FARA), Vidara Therapeutics Research Ltd
Information provided by (Responsible Party): Children's Hospital of Philadelphia

Developing epigenetic diagnostics and therapeutics for brain disorders

Developing epigenetic diagnostics and therapeutics for brain disorders. Irfan A. Qureshi, Mark F. Mehler; Trends in Molecular Medicine, Available online 18 October 2013. http://dx.doi.org/10.1016/j.molmed.2013.09.003

Keywords: bromodomain; epigenomic; exosome; glioma; histone deacetylase; long non-coding RNA; microRNA

EPI-743 in Friedreich's Ataxia Point Mutations

EPI-743 in Friedreich's Ataxia Point Mutations.

The purpose of this study is to evaluate the effects of EPI-743 in patients with Friedreich's Ataxia point mutations.

Official Title: A Phase 2A Clinical Trial of EPI-743 (Vincerinone™) on Visual Function in Friedreich's Ataxia Patients With Point Mutations.

Sponsor: University of South Florida
Collaborators: Edison Pharmaceuticals Inc, Friedreich's Ataxia Research Alliance

Sequence Complexity Effects on Speech Production in Healthy Speakers and Speakers with Hypokinetic or Ataxic Dysarthria

Sequence Complexity Effects on Speech Production in Healthy Speakers and Speakers with Hypokinetic or Ataxic Dysarthria.Reilly KJ, Spencer KA, PLoS ONE 8(10): e77450. doi:10.1371/journal.pone.0077450. (2013)

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Friedreich’s ataxia and other hereditary ataxias in Greece: An 18-year perspective

Friedreich’s ataxia and other hereditary ataxias in Greece: An 18-year perspective. Georgios Koutsis, Athina Kladi, Georgia Karadima, Henry Houlden, Nicholas W. Wood, Kyproula Christodoulou, Marios Panas; Journal of the Neurological Sciences, Available online 16 October 2013; http://dx.doi.org/10.1016/j.jns.2013.10.012

Keywords: Friedreich’s ataxia; spinocerebellar ataxia; autosomal recessive cerebellar ataxia; autosomal dominant cerebellar ataxia; SCA

Orphan Drug Designations and Approvals

Orphan Drug Designations and Approvals.

Generic Name: dimethyl fumarate
Date Designated: 09-11-2013
Orphan Designation: Treatment of Friedreich's Ataxia
Orphan Designation Status: Designated
FDA Orphan Approval Status: Not FDA Approved for Orphan Indication
Sponsor: Gino Cortopassi

RNA-INDUCED TRANSCRIPTIONAL GENE SILENCING IN FRIEDREICH ATAXIA

RNA-INDUCED TRANSCRIPTIONAL GENE SILENCING IN FRIEDREICH ATAXIA. PROJECT: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

Project Number: 5R01NS072418-04
Project Leader: BIDICHANDANI, SANJAY I
Awardee Organization: UNIVERSITY OF OKLAHOMA HLTH SCIENCES CTR

Turn up the power - pharmacological activation of mitochondrial biogenesis in mouse models

Turn up the power - pharmacological activation of mitochondrial biogenesis in mouse models. J C Komen and D R Thorburn; British Journal of Pharmacology, Accepted manuscript online: 17 SEP 2013 11:12PM EST | DOI: 10.1111/bph.12413

Keywords: mitochondria; oxidative phosphorylation; PGC-1α; mitochondrial biogenesis; bezafibrate; resveratrol; AICAR; mouse models; mitochondrial disease

Exercise Induces Hippocampal BDNF through a PGC-1α/FNDC5 Pathway

Exercise Induces Hippocampal BDNF through a PGC-1α/FNDC5 Pathway. Christiane D. Wrann, James P. White, John Salogiannnis, Dina Laznik-Bogoslavski, Jun Wu, Di Ma, Jiandie D. Lin, Michael E. Greenberg, Bruce M. Spiegelman; Cell Metabolism, Available online 10 October 2013. http://dx.doi.org/10.1016/j.cmet.2013.09.008

This findings link endurance exercise and the important metabolic mediators, PGC-1α and FNDC5, with BDNF expression in the brain.

Methylene blue rescues heart defects in a Drosophila model of Friedreich's ataxia

Methylene blue rescues heart defects in a Drosophila model of Friedreich's ataxia. Hervé Tricoire, Amandine Palandri, Arthur Bourdais, Jean-Michel Camadro and Véronique Monnier. Hum. Mol. Genet. (2013) doi: 10.1093/hmg/ddt493.

KEYWORDS: Friedreich's Ataxia (FRDA), Drosophila, neurons, glial cells, methylene blue (MB), alternative electron carrier.

A Phenotypic Screen Identifies Cyclic Peptide Compounds that Induce Repeat Expansion in Yeast

A Phenotypic Screen Identifies Cyclic Peptide Compounds that Induce Repeat Expansion in Yeast.Nicholas G. Economos, An honors thesis for the Department of Biology, Tufts University, 2013.

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The iron-sulfur cluster assembly machineries in plants: current knowledge and open questions

The iron-sulfur cluster assembly machineries in plants: current knowledge and open questions. Couturier J, Touraine B, Briat J-F, Gaymard F and Rouhier N, Front. Plant Sci. 4:259. doi: 10.3389/fpls.2013.00259

Review ARTICLE

Keywords: iron-sulfur, assembly machineries, iron donor, repair, scaffold proteins, carrier Proteins, frataxin

Comparison of somatosensory evoked potentials between adolescent idiopathic scoliosis and congenital scoliosis without neural axis abnormalities

Comparison of somatosensory evoked potentials between adolescent idiopathic scoliosis and congenital scoliosis without neural axis abnormalities . Zhijun Chen, Yong Qiu, Weiwei Ma, Bangping Qian, Zezhang Zhu; The Spine Journal, Available online 5 October 2013. DOI: http://dx.doi.org/10.1016/j.spinee.2013.07.465.

Much evidence in recent years has shown neurologic dysfunction to be regarded as an ultimate cause for adolescent idiopathic scoliosis (AIS) and. In growing children, diseases that alter posterior column function (eg, Chiari I malformation, syringomyelia, and Friedreich ataxia) are consistently associated with an idiopathic (rather than a neuromuscular) curve pattern.

Flexible Cavovarus Foot in Children and Adolescents

Flexible Cavovarus Foot in Children and Adolescents. Kelly L. VanderHave, Robert N. Hensinger, Brandon W. King; Foot and Ankle Clinics, Available online 5 October 2013. DOI: http://dx.doi.org/10.1016/j.fcl.2013.08.006

Keywords: Cavovarus feet; Plantar fascia; Calcaneonavicular ligament; Calcaneocuboid ligament; neurologic diseases; Charcot-Marie-Tooth; Friedreich ataxia

Metabolic remodeling in frataxin-deficient yeast is mediated by Cth2 and Adr1

Metabolic remodeling in frataxin-deficient yeast is mediated by Cth2 and Adr1. Armando Moreno-Cermeño, David Alsina, Elisa Cabiscol, Jordi Tamarit, Joaquim Ros. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Available online 5 October 2013. DOI: http://dx.doi.org/10.1016/j.bbamcr.2013.09.019

Keywords: Friedreich ataxia; yeast frataxin; iron; oxidative stress

EFACTS’ (European Friedreich’s Ataxia Consortium for Translational Studies) Annual Newsletter 2013.

EFACTS’ (European Friedreich’s Ataxia Consortium for Translational Studies) Annual Newsletter 2013.

This third issue of EFACTS NEWS presents an update on the status of the EFACTS patient registry as baseline assessments are completed for a core sample of patients. Progress in the various research areas has been made over the past year. Patients are particularly interested in treatment options and may be glad to read that this newsletter contains information on progress in a clinical trial with a potential therapeutic candidate. There have been a number of publications on findings derived from EFACTS projects, which are also presented in this newsletter.

Cognitive Deficits In Friedreich Ataxia Correlate with Micro-structural Changes in Dentatorubral Tract

Cognitive Deficits In Friedreich Ataxia Correlate with Micro-structural Changes in Dentatorubral Tract. Akhlaghi H, Yu J, Corben L, Georgiou-Karistianis N, Bradshaw JL, Storey E, Delatycki MB, Egan GF; Cerebellum (London, England) : 2013 Oct 2 pg. DOI 10.1007/s12311-013-0525-4

Keywords: Friedreich's ataxia, Dentato-rubral tract, Dentato-thalamic tract, Dentate nucleus, Diffusion MRI