Frataxin knockdown in human astrocytes triggers cell death and the release of factors that cause neuronal toxicity

Frataxin knockdown in human astrocytes triggers cell death and the release of factors that cause neuronal toxicity. Frida Loría, Javier Díaz-Nido, Neurobiology of Disease, Available online 29 December 2014, ISSN 0969-9961, http://dx.doi.org/10.1016/j.nbd.2014.12.017.

Findings confirm a detrimental effect of frataxin silencing, not only for astrocytes, but also for neuron-glia interactions, underlining the need to take into account the role of non-cell autonomous processes in FA.

Selective dendritic susceptibility to bioenergetic and redox perturbations in cortical neurons

Selective dendritic susceptibility to bioenergetic and redox perturbations in cortical neurons. Philip Hasel, Sean Mckay, Jing Qiu, Giles E. Hardingham; Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Available online 22 December 2014, ISSN 0167-4889, http://dx.doi.org/10.1016/j.bbamcr.2014.12.021.

Deregulation of glutathione homeostasis and other antioxidant systems is implicated in the aetiology of several neurodegenerative disorders associated with dendritic pathologies, including: Alzheimer's disease, Huntington's disease, ALS Friedreich's ataxia, and Parkinson's disease, and activation of GSH pathway enzymes, particularly in astrocytes, is a potential therapeutic strategy for combating oxidative stress in the brain.

Transition of Thalassaemia and Friedreich ataxia from fatal to chronic diseases

Transition of Thalassaemia and Friedreich ataxia from fatal to chronic diseases. Annita Kolnagou, Christina N Kontoghiorghe, and George J Kontoghiorghes; World J Methodol. Dec 26, 2014; 4(4): 197–218. Published online Dec 26, 2014. doi: 10.5662/wjm.v4.i4.197

Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells

Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells. Alessandra Rufini, Francesca Cavallo, Ivano Condo’, Silvia Fortuni, Gabriella De Martino, Ottaviano Incani, Almerinda Di Venere, Monica Benini, Damiano Sergio Massaro, Gaetano Arcuri, Dario Serio, Florence Malisan, Roberto Testi; Neurobiology of Disease, Available online 27 December 2014, ISSN 0969-9961, http://dx.doi.org/10.1016/j.nbd.2014.12.011.

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Identical mutation associated with distinct clinical phenotypes of Friedreich’s ataxia: case report

Identical mutation associated with distinct clinical phenotypes of Friedreich’s ataxia: case report . M. Malenica, M. Kukuruzović, S. Bitanga, G. Krakar, B. Valent, Lj. Cvitanović-Šojat; Paediatr Croat. 2014;58:291-4 DOI: http://dx.doi.org/10.13112/PC.2014.51

The cases of our patients prove that it is not advisable to foresee the clinical course based solely on thenumber of repeats.

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

Grant Alert: Elucidating the molecular basis of gene silencing by an ORC-HP1 interaction and their contribution to human health disorders. Christian Speck (Principal Investigator), Till Bartke (Co-Investigator), Richard J Festenstein (Co-Investigator); Source: RCUK Grant #BBM0037601, Organisation: Imperial College London (BBSRC award)

Misregulation of 'heterochromatin' and HP1 is involved in several diseases, including epigenetic diseases such as Friedreich's Ataxia or Facioscapulohumeral muscular dystrophy.

Molecular genetic analysis of Trinucleotide Repeat Disorders (TRDs) in Indian population and application of repeat primed PCR

Molecular genetic analysis of Trinucleotide Repeat Disorders (TRDs) in Indian population and application of repeat primed PCR. Aneek Das Bhowmik, Savithri Rangaswamiah, G. Srinivas, Ashwin B. Dalal, European Journal of Medical Genetics, Available online 19 December 2014, ISSN 1769-7212, http://dx.doi.org/10.1016/j.ejmg.2014.12.010.

Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)

Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA). ClinicalTrials.gov, Verified December 2014 by Weill Medical College of Cornell University

ClinicalTrials.gov identifier: NCT02316314
Sponsors and Collaborators: Weill Medical College of Cornell University
Principal Investigator: Ronald Crystal, MD

Assembly of Fe/S proteins in bacterial systems ☆: Biochemistry of the bacterial ISC system

Assembly of Fe/S proteins in bacterial systems ☆: Biochemistry of the bacterial ISC system. B. Blanc, C. Gerez, S. Ollagnier de Choudens; Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Available online 13 December 2014, ISSN 0167-4889, http://dx.doi.org/10.1016/j.bbamcr.2014.12.009.

Terapia ocupacional en ataxia de friedreich

Terapia ocupacional en ataxia de friedreich. Ana Cristina Martín Pérez, Dolores Moreno Antequera; Revista electrónica de terapia ocupacional Galicia, TOG, ISSN-e 1885-527X, Nº. 20 (Noviembre), 2014


Occupational therapy in friedreich ataxia (Paper in Spanish)

The objective of this article is to present management "Framework for the practice of occupational therapy (domains and processes) and contrast their utility for assessment, diagnosis and intervention in the area of basic and instrumental activities of daily living daily, leisure time and social participation

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Iron Metabolism and Related Disorders

Iron Metabolism and Related Disorders. K. Hoda, C.L. Bowlus, T.W. Chu and J.R. Gruen, In Reference Module in Biomedical Sciences, Elsevier, 2014, Current as of 1 December 2014, ISBN 9780128012383, http://dx.doi.org/10.1016/B978-0-12-801238-3.05573-2.

Fast-Tracking the Development of Effective Therapeutics in Mitochondrial Medicine

Fast-Tracking the Development of Effective Therapeutics in Mitochondrial Medicine. S P Hersh, Clinical Pharmacology & Therapeutics (2014); 96 6, 641–643. doi:10.1038/clpt.2014.163.

Helix–Coil Transition Induced by Metal Ion Interaction with a Grafted Iron–Binding Site of the CyaY Protein Family

Helix–Coil Transition Induced by Metal Ion Interaction with a Grafted Iron–Binding Site of the CyaY Protein Family. Diego Sebastián Vazquez, William Armando Agudelo, Angel Yone, Nora Vizioli, Martín Arán, Luis Gonzalez Flecha, Mariano Camilo González Lebrero and Javier Santos; Dalton Trans., 2014,
DOI: 10.1039/C4DT02796E

These results contribute to an understanding of the iron–binding mechanisms in proteins and, in particular, in the case of human frataxin.

Protecting the mitochondrial powerhouse

Protecting the mitochondrial powerhouse. Morten Scheibye-Knudsen, Evandro F. Fang, Deborah L. Croteau, David M. Wilson III, Vilhelm A. Bohr; Trends in Cell Biology, Available online 11 December 2014, ISSN 0962-8924, http://dx.doi.org/10.1016/j.tcb.2014.11.002.

Keywords: mitochondria; DNA repair; mitophagy; reactive oxygen species; disease

Principled compassion, 'right to try'

Principled compassion, 'right to try' . Editorial, Nature Medicine 20, 1355 (2014) doi:10.1038/nm.3772

As the momentum of right-to-try legislation demonstrates, the public increasingly demands access to the compassionate use of investigational treatments, and companies and regulators need to adapt to this new reality.

A methodological framework for drug development in rare diseases

A methodological framework for drug development in rare diseases. Patrice Nony, Polina Kurbatova, Agathe Bajard, Salma Malik, Charlotte Castellan, Sylvie Chabaud, Vitaly Volpert, Nathalie Eymard, Behrouz Kassai, Catherine Cornu and The CRESim and Epi-CRESim study groups; Orphanet Journal of Rare Diseases 2014, 9:164 doi:10.1186/s13023-014-0164-y

OPEN ACCES, FULL TEXT PDF

Monitoring Cardiac Function During Idebenone Therapy in Friedreich's Ataxia

Monitoring Cardiac Function During Idebenone Therapy in Friedreich's Ataxia. Di Salvo Giovanni, Pergola Valeria, Fadel Bahaa and Al Fayyadh Majid; Curr Pharm Des. 2014;21(4):479-83. DOI: 10.2174/138161282104141204142917

The iron-binding CyaY and IscX proteins assist the ISC-catalyzed Fe-S 1 biogenesis in Escherichia coli

The iron-binding CyaY and IscX proteins assist the ISC-catalyzed Fe-S 1 biogenesis in Escherichia coli. Béatrice Roche, Allison Huguenot, Frédéric Barras and Béatrice Py; Molecular Microbiology (Accepted Article)2014, DOI: 10.1111/mmi.12888

The Mitochondria in Heart Failure: A Target for Coenzyme Q10 Therapy?

The Mitochondria in Heart Failure: A Target for Coenzyme Q10 Therapy?. A Mortensen and A L Mortensen, Clinical Pharmacology & Therapeutics 96, 645-647 (December 2014) | doi:10.1038/clpt.2014.175

Pharmaceutical pricing, cost containment and new treatments for rare diseases in children

Pharmaceutical pricing, cost containment and new treatments for rare diseases in children. Peter Stella and Gabrielle Gold-von Simson; Orphanet Journal of Rare Diseases 2014, 9:152 doi:10.1186/s13023-014-0152-2

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Mitochondria, Energetics, Epigenetics, and Cellular Responses to Stress

Mitochondria, Energetics, Epigenetics, and Cellular Responses to Stress. Shaughnessy DT, McAllister K, Worth L, Haugen AC, Meyer JN, Domann FE, Van Houten B, Mostoslavsky R, Bultman SJ, Baccarelli AA, Begley TJ, Sobol RW, Hirschey MD, Ideker T, Santos JH, Copeland WC, Tice RR, Balshaw DM, Tyson FL.; Environ Health Perspect 122:1271–1278; http://dx.doi.org/10.1289/ehp.1408418

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Ataxia

Ataxia. Umar Akbar, Tetsuo Ashizawa, Neurologic Clinics, Volume 33, Issue 1, February 2015, Pages 225-248, ISSN 0733-8619, http://dx.doi.org/10.1016/j.ncl.2014.09.004.

Keywords: Ataxia; Inherited; Sporadic; Autosomal dominant; Autosomal recessive; Mitochondrial; Diagnosis; Treatment

Topoisomerase I Plays a Critical Role in Suppressing Genome Instability at a Highly Transcribed G-Quadruplex-Forming Sequence

Topoisomerase I Plays a Critical Role in Suppressing Genome Instability at a Highly Transcribed G-Quadruplex-Forming Sequence . Puja Yadav, Victoria Harcy, Juan Lucas Argueso, Margaret Dominska, Sue Jinks-Robertson, Nayun Kim; PLoS Genet 10(12): e1004839. doi:10.1371/journal.pgen.1004839

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Genomic instability at purine-rich GAA•TTC repeats and CAG•CTG repeats, which can fold into three-stranded H-DNA and a slipped hairpin structure, forms the molecular basis of multiple neurodegenerative diseases, such as Freidreich's Ataxia and Huntington's disease, respectively.

Hawking's speech software goes open source for disabled

Hawking's speech software goes open source for disabled. Phys-Org News 12/2014

The system that helps Stephen Hawking communicate with the outside world will be made available online from January in a move that could help millions of motor neurone disease sufferers, scientists said Tuesday.

Friedreich ataxia in chinese population (short note)

Friedreich ataxia in chinese population. Dr Xuefeng Pan, Dr Xuefeng Pan's Web Log


We have identified at least two cases of Friedreich ataxia in chinese population in chinese mainland, our findings for the first time unraveled a fact that Chinese people are also vulnerable to Friedreich ataxia

Consensus clinical management guidelines for Friedreich ataxia

Consensus clinical management guidelines for Friedreich ataxia.. Louise A Corben, David Lynch, Massimo Pandolfo, Jörg B Schulz, Martin B Delatycki and On behalf of the Clinical Management Guidelines Writing Group; Orphanet Journal of Rare Diseases 2014, 9:184 doi:10.1186/s13023-014-0184-7

OPEN ACCESS (Summary of recommendations and process of developing the guidelines).

FARA FUNDED: Awesome document with the support of FARA. A knowledge upgrade which gathers the views of clinicians from several countries. It has been developed under the newest international standards of assessment and analysis of the clinical management of the disease.

Consensus Clinical Management Guidelines (Full Text Only Available on the FARA Website)

User's Guide


Authors:
Executive committee: Professor Martin Delatycki, Dr Louise Corben, Professor Massimo Pandolfo, Professor David Lynch, Professor Jörg Shultz.

Contributing authors: Dr Laura Balcer (USA), Mr Ron Bartek (USA), Dr Claire Bates (UK), Ms Emma Campagna (Australia), Dr Louise Corben (Australia), Dr Miriam Cnop (Belgium), Professor Martin Delatycki (Australia), Professor Alexandra Dürr (France), Dr Anton Emmanuel (UK), Ms Jennifer Farmer (USA), Professor John Flynn (USA), Ms Lisa S. Friedman (USA), Dr Paola Giunti (UK), Dr Marios Hadjivassiliou (UK), Dr Michael Ho (Australia), Dr Grazia Isaya (USA), Dr Mary Kearney (Ireland), Ms Melissa Loucas (UK), Professor David R. Lynch (USA), Dr Caterina Marotti (Italy), Ms Sarah Milne (Australia), Dr Thierry Morlet (USA), Dr Andrew McGarry (USA), Professor Massimo Pandolfo (Belgium), Dr Jalesh Panicker (UK), Dr Michael Parkinson (UK), Dr R Mark Payne (USA), Dr Roger Peverill (Australia), Associate Professor Gary Rance (Australia), Ms Lucy Rodriguez (UK), Ms Kimberly A. Schadt (USA), Ms Lauren Seyer (USA), Professor Jörg Shultz (Germany), Dr S.H Subramony (USA), Dr. Kelly L. Sullivan (USA), Dr Adam Vogel (Australia), Dr Eppie Yiu (Australia), Dr Grace Yoon (Canada), Dr. Theresa A. Zesiewicz (USA).