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.

Modelling Friedreich's Ataxia Using Human Induced Pluripotent Stem Cells

The Scripps Research Institute Graduate Program. Thesis for the degree of Doctor of Philosophy in the subject of Biology.La Jolla,California March 2011.

Sherman Ku

Keywords: Friedreich’s ataxia (FRDA), GAA•TTC triplet repeat expansion, heterochromatin-mediated compaction, frataxin gene, induced pluripotent stemcells (iPSCs), fibroblasts, MSH2.

MOLECULAR DETAILS OF THE PROTEINS INVOLVED MITOCHONDRIAL IRON-SULFUR CLUSTER ASSEMBLY

Wayne State University Theses. Paper 148. (2011)

YOGAPRIYA MURUGESAN

Keywords: Friedrich's ataxia, frataxin, Fe-S cluster assembly, reactive oxygen species, cysteine desulfurase Nfs1, scaffold protein Isu, metal iron.

The Role of Iron in Retinal Diseases

Humana Press. Studies on Retinal and Choroidal Disorders. Oxidative Stress in Applied Basic Research and Clinical Practice, 2012, 259-275,Isbn: 978-1-61779-606-7, Doi: 10.1007/978-1-61779-606-7_12

Sonia Mehta and Joshua L. Dunaief.

Keywords: Iron, free radical generator, retina, macula, oxidative damage, aceruloplasminemia, Friedreich’s ataxia, pantothenate kinase-associated neurodegeneration, iron overload.

Biochemical Characterization of Iron-Sulfur Cluster Assembly in the Scaffold IscU of Escherichia coli.

Biochemistry (Mosc). 2012 Feb;77(2):135-42.

Wu G, Li L.
College of Life Science, Zhejiang University, Hangzhou, 310058, China.

Keywords: Iron-sulfur cluster, IscU, iron, cysteine, environmental pH, IscS, first order reaction, mixed order reaction, zero order reaction, apo-IscU.

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Effector role reversal during evolution: the case of frataxin in Fe-S cluster biosynthesis

Biochemistry, Just Accepted Manuscript, DOI: 10.1021/bi201628j, Publication Date (Web): February 21, 2012

Jennifer Bridwell-Rabb, Clara Iannuzzi, Annalisa Pastore, and David P. Barondeau

Keywords: frataxin (FXN), Friedreich’s ataxia, NFS1-ISD11-ISCU2-FXN (SDUF) core Fe-S assembly complex, cysteine desulfurase, Fe-S cluster biosynthesis.

Cognition in Friedreich Ataxia.

Cerebellum. 2012 Feb 16.

Nieto A, Correia R, de Nóbrega E, Montón F, Hess S, Barroso J.
School of Psychology, University of La Laguna, 38205, La Laguna, Tenerife, Spain,

Keywords: Friedreich ataxia (FRDA), cognitive status, motor problems, processing speed, attention, working memory, executive functions, verbal and visual memory, visuoperceptive and visuospatial skills, visuoconstructive functions, language, depression inventory, executive problems, parieto-temporal dysfunction, mild anomalies in cerebral hemispheres, cerebro-cerebellar circuits..