Evidence for a Role of Frataxin in Pancreatic Islets Isolated from Multi-Organ Donors with and Without Type 2 Diabetes Mellitus.

Horm Metab Res. 2012 Mar 7. [Epub ahead of print]

Del Guerra S, D'Aleo V, Gualtierotti G, Pandolfi R, Boggi U, Vistoli F, Barnini S, Filipponi F, Del Prato S, Lupi R.
Department of Endocrinology and Metabolism, Section of Metabolic Diseases and Diabetes, Pisa University Hospital, Pisa, Italy.

Keywords: Frataxin (FXN), iron metabolism, reactive oxygen and/or nitrogen species, pancreatic islets, Type 2 diabetes mellitus, insulin release, glucose stimulation (SI), nitrotyrosine.

Small biotechs raring to cash in on the orphan disease market

Nature Medicine 18, 330–331 (2012), doi:10.1038/nm0312-330

Friedreich’s Ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase

Hum. Mol. Genet. (2012) doi: 10.1093/hmg/dds095 First published online: March 6, 2012

Gregory R. Wagner 1, P. Melanie Pride 2, Clifford M. Babbey 2 and R. Mark Payne1,2

1 Dept. of Medical & Molecular Genetics, 2D ept. of Pediatrics, Riley Heart Research Center, Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202

Keywords: Friedreich’s Ataxia (FRDA), frataxin, lysine acetylation, mitochondrial function, SIRT3 deacetylase, protein hyperacetylation.

Confused by genetic tests? NIH’s new online tool may help

An online tool launched today by the National Institutes of Health will make it easier to navigate the rapidly changing landscape of genetic tests. The free resource, called the Genetic Testing Registry (GTR), is available at http://www.ncbi.nlm.nih.gov/gtr/.

Friedreich ataxia

Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease

Dis. Model. Mech. March 2012, doi: 10.1242/dmm.009019 vol. 5 no. 2 155-164

Tracey A. Rouault
National Institute of Child Health and Human Development, Bethesda, MD

Keywords: Iron-sulfur (Fe-S) clusters, electron transport, respiratory chain complexes, regulatory sensing, photosynthesis, DNA repair, Friedreich’s ataxia (FRDA), ISCU myopathy, sideroblastic anemia, encephalomyopathy, mitochondrial iron overload.

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Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models

Dis. Model. Mech. March 2012, doi: 10.1242/dmm.008706 vol. 5 no. 2 165-176

Alain Martelli 1,2,3,4,5, Marek Napierala 6 and Hélène Puccio 1,2,3,4,5,*
1 Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404, Illkirch, France
2 Inserm, U596, 67400, Illkirch, France
3 CNRS, UMR7104, 67400, Illkirch, France
4 Université de Strasbourg, 67000, Strasbourg, France
5 Collège de France, Chaire de génétique humaine, 67400, Illkirch, France
6 The Department of Molecular Carcinogenesis, Center for Cancer Epigenetics, University of Texas MD Anderson Cancer Center Science Park, Smithville, TX, USA

Keywords: Friedreich’s ataxia (FRDA), frataxin (FXN), GAA.

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Cardiomyopathy in Friedreich's Ataxia: Exemplifying the Challenges Faced by the Cardiologists in the Management of Rare Diseases

CIRCULATIONAHA.112.095364 Published online before print February 29, 2012, doi: 10.1161/​CIRCULATIONAHA.112.095364

Morten Kvistholm Jensen; Henning Bundgaard
The Heart Centre, Rigshospitalet, Copenenhagen, Denmark

Keywords: Friedreich's ataxia (FA), cardiomyopathy, left ventricular hypertrophy (FA-CM), antioxidants, Idebenone, MICONOS study group.

Cardiomyopathy of Friedreich's Ataxia (FRDA).

Ir J Med Sci. 2012 Feb 29. [Epub ahead of print]

Payne RM, Peverill RE.
Indiana University School of Medicine, 1044 W Walnut, R4-302, Indianapolis, IN, 46202, USA, rpayne@iupui.edu.

No abstract available

Selecting and isolating colonies of human induced pluripotent stem cells reprogrammed from adult fibroblasts.

J Vis Exp. 2012 Feb 20;(60). pii: 3416. doi: 10.3791/3416.

Polak U, Hirsch C, Ku S, Gottesfeld J, Dent SY, Napierala M.
Department of Molecular Carcinogenesis and Center for Cancer Epigenetics, University of Texas M.D. Anderson Cancer Center.

Keywords: human adult fibroblasts, human induced pluripotent stem cells (hiPSC), retroviral vectors, Oct3/4, Sox2, Klf4, c-myc (OSKM), Friedreich ataxia.

The Heart in Friedreich Ataxia: Definition of Cardiomyopathy, Disease Severity, and Correlation with Neurological Symptoms

CIRCULATIONAHA.111.059477, Published online before print February 29, 2012, doi: 10.1161/​CIRCULATIONAHA.111.059477

Original Research Article

The Heart in Friedreich Ataxia: Definition of Cardiomyopathy, Disease Severity, and Correlation with Neurological Symptoms

Frank Weidemann 1; Christian Rummey 2; Bart Bijnens 3; Stefan Störk 1; Ruta Jasaityte 4; Jan Dhooge 4; Aigul Baltabaeva 5; George Sutherland 5; Jörg B. Schulz 5; Thomas Meier 2.
1 University of Würzburg, Würzburg, Germany; 2 Santhera Pharmaceuticals, Liestal, Switzerland; 3 ICREA - Universitat Pompeu Fabra, Barcelona, Spain & University of Leuven, Leuven, Belgium; 4 University of Leuven, Leuven, Belgium; 5 St. George's Hospital, London, United Kingdom; 6 University Hospital, RWTH Aachen & JARA-Brain, Aachen, Germany

KEYWORDS: Friedreich ataxia (FA), cardiomyopathy (FA-CM), standard echocardiography, color Doppler myocardial imaging (CDMI), cardiac magnetic resonance imaging (cMRI), electrocardiography (ECG), neurological function.