Friedreich Ataxia Scientific News

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

Sunday, July 22, 2018

Activating frataxin expression by single-stranded siRNAs targeting the GAA repeat expansion

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Xiulong Shen, Audrius Kilikevicius, Daniel O'Reilly, Thazha P. Prakash, Masad J. Damha, Frank Rigo, David R. Corey, Bioorganic & Med...
Monday, July 16, 2018

Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome

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Salman OF, El-Rayess HM, Abi Khalil C, Nemer G and Refaat MM (2018) Front. Cardiovasc. Med. 5:77. doi: 10.3389/fcvm.2018.00077
Wednesday, July 11, 2018

Reata Receives Orphan Drug Designation from the European Commission for Omaveloxolone for the Treatment of Friedreich’s Ataxia

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IRVING, Texas, July 10, 2018 (GLOBE NEWSWIRE) -- Reata Pharmaceuticals, Inc. (Nasdaq:RETA), a clinical-stage biopharmaceutical company, toda...
Monday, July 9, 2018

The Cerebellum and Cognition

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Jeremy D. Schmahmann, Neuroscience Letters, 2018, doi:10.1016/j.neulet.2018.07.005. Structure function correlation studies following focal...
Sunday, July 8, 2018

Impact of Drosophila Models in the Study and Treatment of Friedreich’s Ataxia

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Monnier, V.; Llorens, J.V.; Navarro, J.A., Int. J. Mol. Sci. 2018, 19, 1989. Drosophila melanogaster has been for over a century the model...
Friday, July 6, 2018

Architectural Features of Human Mitochondrial Cysteine Desulfurase Complexes from Crosslinking Mass Spectrometry and Small-Angle X-Ray Scattering

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Kai Cai, Ronnie O. Frederick, Hesam Dashti, John L. Markley; Structure, 2018, doi:10.1016/j.str.2018.05.017. We present a structural model...

Targeting ERK signaling pathway by polyphenols as novel therapeutic strategy for neurodegeneration

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Mohammad Hosein Farzaei, Devesh Tewari, Saeideh Momtaz, Sandro Argüelles, Seyed Mohammad Nabavi, Food and Chemical Toxicology, 2018, doi:10....
Thursday, July 5, 2018

The Etiologies of Chronic Progressive Cerebellar Ataxia in a Korean Population

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Kim JS, Kwon S, Ki CS, Youn J, Cho JW.; J Clin Neurol. 2018 Jul;14(3):374-380. Doi:10.3988/jcn.2018.14.3.374 Although the AR ataxias such ...
Monday, July 2, 2018

Frataxin Restoration in the Nervous System: Possibilities for Gene Therapy

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David R. Lynch, Elizabeth Kichula, and Hong Lin. Molecular Therapy, Available online 30 June 2018, ISSN 1525-0016, doi:10.1016/j.ymthe.2018....
Friday, June 29, 2018

Structural characteristics of the central nervous system in Friedreich ataxia: an in vivo spinal cord and brain MRI study

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Imis Dogan, Sandro Romanzetti, Claire Didszun, Shahram Mirzazade, Dagmar Timmann, Carsten Saft, Ludger Schöls, Matthis Synofzik, Ilaria A Gi...
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