Cellular Iron Uptake, Trafficking and Metabolism: Key Molecules and Mechanisms and their Roles in Disease

Cellular Iron Uptake, Trafficking and Metabolism: Key Molecules and Mechanisms and their Roles in Disease. D.J.R. Lane, A.M. Merlot, M.L.-H. Huang, D.-H. Bae, P.J. Jansson, S. Sahni, D.S. Kalinowski, D.R. Richardson, Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Available online 4 February 2015, ISSN 0167-4889, http://dx.doi.org/10.1016/j.bbamcr.2015.01.021.

Possible roles of frataxin in iron homeostasis under the prespective of the Friedreich's ataxia

Iron Regulatory Protein 1 Sustains Mitochondrial Iron Loading and Function in Frataxin Deficiency

Iron Regulatory Protein 1 Sustains Mitochondrial Iron Loading and Function in Frataxin Deficiency. Alain Martelli, Stéphane Schmucker, Laurence Reutenauer, Jacques R.R. Mathieu, Carole Peyssonnaux, Zoubida Karim, Hervé Puy, Bruno Galy, Matthias W. Hentze, Hélène Puccio, Cell Metabolism, Volume 21, Issue 2, 3 February 2015, Pages 311-322, ISSN 1550-4131, http://dx.doi.org/10.1016/j.cmet.2015.01.010.

The promise and perils of HDAC inhibitors in neurodegeneration

The promise and perils of HDAC inhibitors in neurodegeneration. Alessandro Didonna and
Puneet Opal; Annals of Clinical and Translational Neurology, Volume 2, Issue 1, pages 79–101, January 2015 DOI: 10.1002/acn3.147

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International Congress on Friedreich’s Ataxia and International conference on “DNA Structure in Health & Disease”

International Congress on Friedreich’s Ataxia and International conference on “DNA Structure in Health & Disease”.; 11th -13th April, 2015 at the All India Institute of Medical Sciences, New Delhi, India.

Frataxin inactivation leads to steroid deficiency in flies and human ovarian cells

Frataxin inactivation leads to steroid deficiency in flies and human ovarian cells . Amandine Palandri, David L'hôte, Joëlle Cohen-Tannoudji, Hervé Tricoire and Véronique Monnier; Hum. Mol. Genet. (2015) doi: 10.1093/hmg/ddv024 First published online: January 26, 2015

Reata Enrolls First Patient in the MOXIe Study, a Phase 2/3 Study Examining RTA 408 in Friedreich's Ataxia Patients

Reata Enrolls First Patient in the MOXIe Study, a Phase 2/3 Study Examining RTA 408 in Friedreich's Ataxia Patients. SOURCE: Reata Pharmaceuticals, Inc., January 29

IRVING, TX--(Marketwired - January 29, 2015) - Reata announces enrollment of the first patient in a Phase 2 dose-ranging study examining the safety, tolerability, and efficacy of RTA 408 Oral Capsules versus placebo for the treatment of patients with Friedreich's ataxia.

Project: Elucidating the molecular basis of gene silencing by an ORC-HP1 interaction and their contribution to human health disorders

Project: Elucidating the molecular basis of gene silencing by an ORC-HP1 interaction and their contribution to human health disorders. Principal Investigator: Christian Speck, Imperial College London, Department Name: Institute of Clinical Sciences. Funded Period: sep 14 - ago 17

We will analyse the effect of ORC-HP1 interactions for its normal role in cells and in the context of the epigenetic disease, Friedreich's Ataxia, to understand the functional relevance of the complex.

Neurodegenerative Diseases and Therapeutic Strategies using Iron chelators

Neurodegenerative Diseases and Therapeutic Strategies using Iron chelators. Roberta J. Ward, David T. Dexter, Robert R. Crichton, Journal of Trace Elements in Medicine and Biology, Available online 22 January 2015, ISSN 0946-672X, http://dx.doi.org/10.1016/j.jtemb.2014.12.012.

Preliminary results from trials of iron chelation therapy in these neurodegenerative diseases is reviewed.

Genome-Engineering Tools to Establish Accurate Reporter Cell Lines That Enable Identification of Therapeutic Strategies to Treat Friedreich’s Ataxia

Genome-Engineering Tools to Establish Accurate Reporter Cell Lines That Enable Identification of Therapeutic Strategies to Treat Friedreich’s Ataxia. Rodrigo Villaseñor, Loren Miraglia, Angelica Romero, Buu Tu, Tanel Punga, Philip Knuckles, Stephan Duss, Tony Orth, and Marc Bühler; J Biomol Screen 1087057114568071, first published on January 23, 2015 as doi:10.1177/1087057114568071


Rational design of small-molecule inhibitors of the identified frataxin repressors and/or high-throughput screening of large siRNA or compound libraries with our system may yield treatments for Friedreich’s ataxia.

Cerebellar transcriptional alterations with Purkinje cell dysfunction and loss in mice lacking PGC-1α

Cerebellar transcriptional alterations with Purkinje cell dysfunction and loss in mice lacking PGC-1α. Lucas EK, Reid CS, McMeekin LJ, Dougherty SE, Floyd CL, Cowell RM. Front Cell Neurosci. 2015 Jan 6;8:441. doi: 10.3389/fncel.2014.00441. eCollection 2014.

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Recently, PGC-1α was also found to be involved in the pathology of Friedreich Ataxia. Friedreich Ataxia is an autosomal recessive disorder and is the most common of the early-onset hereditary ataxias. Friedreich Ataxia is caused by an expanded GAA triplet repeat in the first intron of the frataxin gene, resulting in a 65–95% reduction in frataxin expression in Friedreich Ataxia patients . Transcript expression of PGC-1α and its downstream target MnSOD was found to be decreased in fibroblasts and lymphoblasts of patients with Friedreich Ataxia. In fact, transcript expression of frataxin is highly correlated with that of PGC-1α in Friedreich Ataxia and control cells, and knock down of frataxin in cell culture also decreases transcript expression of PGC-1α.