Monday, July 23, 2018

Zinc(II) binding on human wild-type ISCU and Met140 variants modulates NFS1 desulfurase activity

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Nicholas G. Fox, Alain Martelli, Joseph F. Nabhan, Jay Janz, Oktawia Borkowska, Christine Bulawa, Wyatt W. Yue, Biochimie, 2018, doi:10.1016...

Genome damage from CRISPR/Cas9 gene editing higher than thought

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ScienceDaily, 19 July 2018. Scientists at the Wellcome Sanger Institute have discovered that CRISPR/Cas9 gene editing can cause greater gene...

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 Although t...

Sodium magnetic resonance imaging in Friedreich ataxia – A preliminary study

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J.S. Krahe, S. Romanzetti, I. Dogan, C. Didszun, J.B. Schulz, K. Reetz, Clinical Neurophysiology, Volume 129, Issue 8, 2018, Pages e71-e72, ...

Novel Nrf2-Inducer Prevents Mitochondrial Defects and Oxidative Stress in Friedreich’s Ataxia Models

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Abeti R, Baccaro A, Esteras N and Giunti P (2018); Front. Cell. Neurosci. 12:188. doi: 10.3389/fncel.2018.00188 Omaveloxolone was protecti...
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...