Friedreich Ataxia Scientific News

Friedreich Ataxia and close related scientific news. Topics related to rare diseases.

Monday, May 16, 2022

Antioxidantes en el tratamiento de la ataxia de Friedreich. Ensayo in vitro de la eficacia del aceite esencial de clavo

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García Vivancos, Marta; Repositorio Institucional Universitat de les Illes Balears, URI: http://hdl.handle.net/11201/157022, Fecha: 2021, Fe...
Sunday, May 15, 2022

EU/3/21/2456: Orphan designation for the treatment of Friedreich's ataxia. Withdrawn

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Sponsor: Novartis Gene Therapies EU Limited The designation was withdrawn from the Union Register of orphan medicinal products in March 202...

Neurological Recovery with Interferon-gamma Treatment in Friedreich's Ataxia

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Tekin HG, Levent E.; J Coll Physicians Surg Pak. 2022 May;32(5):671-673. doi: 10.29271/jcpsp.2022.05.671. PMID: 35546709.  The treatment was...
Tuesday, May 10, 2022

Frataxin deficiency lowers lean mass and triggers the integrated stress response in skeletal muscle

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César Vásquez-Trincado, Julia Dunn, Ji In Han, Briyanna Hymms, Jaclyn Tamaroff, Monika Patel, Sara Nguyen, Anna Dedio, Kristin Wade, Chinaz...
Tuesday, May 3, 2022

Identification of the Minimum Therapeutic Intravenous Dose of AAVrh.10hFXN to Treat the Cardiac Manifestations of Friedreich’s Ataxia

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Presenter: Carlos Munoz Zuluaga, M.D., Weill Cornell Medicine Date/Time: Wednesday, May 18, 2022 at 5:30 PM ET Session Title: AAV Vectors – ...
Friday, April 29, 2022

Towards a metabolomic approach to investigate iron-sulfur cluster biogenesis

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Marengo M, Fissore A, Oliaro-Bosso S, Adinolfi S, Pastore A.; IUBMB Life. 2022 Apr 27. doi: 10.1002/iub.2618. Epub ahead of print. PMID: 354...
Thursday, April 28, 2022

Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich’s Ataxia Blood

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Wang, Q., L. Laboureur, L. Weng, N. M. Eskenazi, L. A. Hauser, C. Mesaros, D. R. Lynch, and I. A. Blair, 2022, Frontiers, doi:10.3389/fnins....
Wednesday, April 27, 2022

Increased brain tissue sodium concentration in Friedreich ataxia: a multimodal MR Imaging study

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Janna Krahe, Imis Dogan, Claire Didszun, Shahram Mirzazade, Alexa Haeger, Nadim Joni Shah, Ilaria A. Giordano, Thomas Klockgether, Guillaume...
Tuesday, April 26, 2022

Posttranslational Regulation of Mitochondrial Frataxin and Identification of Compounds that Increase Frataxin Levels in Friedreich’s Ataxia

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Peter T. Hackett, Xuan Jia, Liangtao Li, Diane M. Ward; Journal of Biological Chemistry, 2022, 101982, ISSN 0021-9258, doi:10.1016/j.jbc.202...
Friday, April 22, 2022

Spinal cord damage in Friedreich's ataxia: Results from ENIGMA-Ataxia

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Thiago JR Rezende, Isaac M Adanyeguh, Filippo Arrigoni, Benjamin Bender, Fernando Cendes, Louise A Corben, Andreas Deistung, Martin Delatyck...
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