Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function

Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function. Luisa Iommarini, Susana Peralta, Alessandra Torraco, Francisca Diaz, P, Mitochondrion, Available online 29 January 2015, ISSN 1567-7249, http://dx.doi.org/10.1016/j.mito.2015.01.008.


Interestingly, in contrast to what has been observed extensively in clinical studies, the mice did not show any oxidative damage. This difference could be explained because in mice the total deletion of Fxn happens in a certain tissue at a specific time, whereas FRDA is characterized by partial Frataxin deficiency in all cells throughout the lifetime.

Mitochondrial diseases Part III: Therapeutic interventions in mouse models of oxphos deficiencies

Mitochondrial diseases Part III: Therapeutic interventions in mouse models of oxphos deficiencies. Mitochondrion, Available online 29 January 2015, ISSN 1567-7249, http://dx.doi.org/10.1016/j.mito.2015.01.007.

This review summarize and discuss the different therapeutic interventions tested in some mouse models of mitochondrial diseases laying emphasis on the molecular mechanisms of action and their potential applications.

Emerging critical roles of Fe-S clusters in DNA replication and repair

Emerging critical roles of Fe-S clusters in DNA replication and repair. Jill O. Fuss, Chi-Lin Tsai, Justin P. Ishida, John A. Tainer, Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Available online 2 February 2015, ISSN 0167-4889, http://dx.doi.org/10.1016/j.bbamcr.2015.01.018.

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.