Frataxin expression in reticulocytes of non-splenectomized and splenectomized patients with HbE-β-thalassaemia

Yollada Suebpeng, Arunee Jetsrisuparb, Supan Fucharoen, Amporn Tripatara, Clinical Biochemistry, Available online 14 November 2015, ISSN 0009-9120, doi: 10.1016/j.clinbiochem.2015.11.008.

The relative FXN expression in the patients was found to be correlated with the levels of MDA and ferritin but not correlated with transferrin saturation. The elevation of FXN expression in the reticulocytes of these patients seems to be linked to oxidative stress and iron status. Findings also suggest that FXN expression is at least partially regulated by the mitochondrial demand for iron for haem synthesis.

Efficient attenuation of Friedreich's ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA,

Yee-Ki Lee, Yee-Man Lau, Kwong-Man Ng, Wing-Hon Lai, Shu-Leong Ho, Hung-Fat Tse, Chung-Wah Siu, Philip Wing-Lok Ho, International Journal of Cardiology, Available online 17 November 2015, ISSN 0167-5273, doi:10.1016/j.ijcard.2015.11.101.

Life without Fe-S clusters

Agostinho G. Rocha and Andrew Dancis, Molecular Microbiology 1365-2958, DOI - 10.1111/mmi.13273

Microcommentary on “Novel features of the ISC machinery revealed by characterization of Escherichia coli mutants that survive without iron-sulfur clusters” by Naoyuki Tanaka, Miaki Kanazawa, Keitaro Tonosaki, Nao Yokoyama, Tomohisa Kuzuyama, Yasuhiro Takahashi.

Développement d'un nouveau modèle cellulaire de l'ataxie de Friedreich : différenciation de cellules pluripotentes induites de patients en cardiomyocytes

Aurore Hick. (Theses) Rhumatologie et système ostéo-articulaire. Université de Strasbourg, 2014. Français.

Frataxin knockdown in Drosophila alters mitochondrial homeostasis and degradation in muscles and glia

Seminars: IGC - Instituto Gulbenkian de Ciência (Portugal), Speaker: Juan Navarro, Affiliation: Institut für Zoologie, Universität Regensburg, Germany, Date 13/11/2015

Normative Data for an Instrumental Assessment of the Upper-Limb Functionality

Marco Caimmi, Eleonora Guanziroli, Matteo Malosio, Nicola Pedrocchi, Federico Vicentini, Lorenzo Molinari Tosatti and Franco Molteni, BioMed Research International Volume 2015 (2015), Article ID 484131, 14 pages doi:10.1155/2015/484131


This work led to the creation of a reliable database of normative data of the Reaching and Hand-to-Mouth Evaluation Method. Its simplicity and brevity make the whole procedure widely applicable to the UL functional assessment.

Structural and Functional Magnetic Resonance Imaging of the Cerebellum: Considerations for Assessing Cerebellar Ataxias

Andreas Deistung , Maria R. Stefanescu, Thomas M. Ernst, Marc Schlamann, Mark E. Ladd, Jürgen R. Reichenbach, Dagmar Timmann, Review: The Cerebellum pp 1-5 First online: 31 October 2015 DOI 10.1007/s12311-015-0738-9

Data from initial fMRI studies are presented in three common forms of hereditary ataxias (Friedreich’s ataxia, spinocerebellar ataxia type 3, and spinocerebellar ataxia type 6).

Patent: METHODS AND PHARMACEUTICAL COMPOSITIONS FOR THE TREATMENT AND THE PREVENTION OF CARDIOMYOPATHY DUE TO FRIEDREICH ATAXIA

Inventor(s): PUCCIO HELENE MONIQUE [FR]; AUBOURG PATRICK [FR]; CRYSTAL RONALD G [US]; BOUGNERES PIERRE [FR]

Application number: US201514718696 20150521

A method for preventing or treating cardiomyopathy due to energy failure in a subject in need thereof is provided. The method comprises administering to the subject a therapeutically effective amount of a vector which comprises a nucleic acid sequence encoding a gene that can reverse energy failure. An exemplary cardiomyopathy is that which is associated with Friedreich ataxia and an exemplary nucleic acid sequence comprises a nucleic acid that encodes frataxin (FXN).

Management of Children with Mild, Moderate, and Moderately Severe Sensorineural Hearing Loss

Anne Marie Tharpe, Samantha Gustafson, Otolaryngologic Clinics of North America, Volume 48, Issue 6, December 2015, Pages 983-994, ISSN 0030-6665, doi:10.1016/j.otc.2015.07.005.

The roles of pediatricians and otolaryngologists in referring children for appropriate assessments and interventions, and encouraging families to comply with hearing technology use and therapeutic intervention are crucial to ensuring the best possible outcomes.

UAB researchers seek Friedreich’s ataxia biomarkers

UAB News, University of Alabama at Birmingham, November 04, 2015

“There is a high demand for biomarkers because of ongoing clinical trials with Friedreich’s ataxia patients,” said Marek Napierala, Ph.D., assistant professor in UAB Department of Biochemistry and Molecular Genetics, UAB Stem Cell Institute. “We need better measures of the progression of the disease and the therapeutic response.”