High-Throughput Immunoassay for the Biochemical Diagnosis of Friedreich Ataxia in Dried Blood Spots and Whole Blood

High-Throughput Immunoassay for the Biochemical Diagnosis of Friedreich Ataxia in Dried Blood Spots and Whole Blood. Devin Oglesbee, Charles Kroll, Oleksandr Gakh, Eric C. Deutsch, David R. Lynch, Ralitza Gavrilova, Silvia Tortorelli, Kimiyo Raymond, Dimitar Gavrilov, Piero Rinaldo, Dietrich Matern and Grazia Isaya; Clinical Chemistry clinchem.2013.207472 Published July 9, 2013.

Keywords: Friedreich ataxia (FRDA), frataxin (FXN), clinical diagnosis, therapeutic monitoring, population screening, immunoassay for measuring FXN.

Ferredoxin competes with bacterial frataxin in binding to the desulfurase IscS

Ferredoxin competes with bacterial frataxin in binding to the desulfurase IscS. Robert Yan, Petr V. Konarev, Clara Iannuzzi, Salvatore Adinolfi, Beatrice Roche, Geoff Kelly, Lea Simon, Stephen R. Martin, Beatrice Py, Frederic Barras, Dmitri I. Svergun, and Annalisa Pastore; J. Biol. Chem. jbc.M113.480327. First Published on July 9, 2013, doi:10.1074/jbc.M113.480327

Keywords: bacterial ISC operon, iron-sulfur cluster biogenesis, desulfurase IscS, ferredoxin, ferredoxin/IscS complex, frataxin.

Neurodegeneration in Friedreich’s Ataxia: From Defective Frataxin to Oxidative Stress

Neurodegeneration in Friedreich’s Ataxia: From Defective Frataxin to Oxidative Stress. Cláudio M. Gomes and Renata Santos; Oxidative Medicine and Cellular Longevity, vol. 2013, Article ID 487534, 10 pages, 2013. doi:10.1155/2013/487534

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Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction

Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction. Martin St John Sutton, Bonnie Ky, Sean R. Regner, Kim Schadt, Ted Plappert, Jiwei He, Benjamin D'Souza and David R. Lynch; Echocardiography 2013;0:1–8, Article first published online: 9 JUL 2013 | DOI: 10.1111/echo.12287

Keywords: Friedreich ataxia, myocardial strain, speckle tracking echocardiography, left ventricular hypertrophy, heart failure