Friedreich Ataxia Scientific News

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

Monday, September 18, 2017

Relationship Between Neurological Disability and Visual Impairment in Patients With ALS or Friedreich's Ataxia

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ClinicalTrials.gov Identifier: NCT03285204, First received: March 8, 2017 Principal Investigator: Jose L Urcelay, PhD HGU Gregorio Marañón...
Saturday, September 16, 2017

Alternative mitochondrial electron transfer for the treatment of neurodegenerative diseases and cancers: Methylene blue connects the dots

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Shao-Hua Yang, Wenjun Li, Nathalie Sumien, Michael Forster, James W. Simpkins, Ran Liu, In Progress in Neurobiology, Volume 157, 2017, Pages...
Sunday, September 10, 2017

Market access of Spinraza (Nusinersen) for spinal muscular atrophy: intellectual property rights, pricing, value and coverage considerations

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S Simoens and I Huys; Gene Therapy , (7 September 2017) | doi:10.1038/gt.2017.79 In December 2016, Spinraza (Nusinersen), Biogen (Durham, ...

Detection of long repeat expansions from PCR-free whole-genome sequence data

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Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw, Mitchell A. Bekritsky, Marka van Blitterswijk, Giuseppe Narzisi, Subramanian S. Ajay,...
Saturday, September 9, 2017

Nitric oxide prevents Aft1 activation and metabolic remodeling in Frataxin-deficient yeast

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David Alsina, Joaquim Ros, Jordi Tamarit, Redox Biology, Available online 6 September 2017, ISSN 2213-2317, doi:10.1016/j.redox.2017.09.001....
Thursday, September 7, 2017

RNA biology of disease-associated microsatellite repeat expansions

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Kushal J. Rohilla and Keith T. Gagnon, Acta Neuropathologica 20175:63, doi:10.1186/s40478-017-0468-y This review focuses on the potential ...
Wednesday, September 6, 2017

A Defective mRNA Cleavage and Polyadenylation Complex Facilitates Expansions of Transcribed (GAA)n Repeats Associated with Friedreich’s Ataxia

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Ryan J. McGinty, Franco Puleo, Anna Y. Aksenova, Julia A. Hisey, Alexander A. Shishkin, Erika L. Pearson, Eric T. Wang, David E. Housman, Cl...
Tuesday, September 5, 2017

Engineered Axonal Tracts as “Living Electrodes” for Synaptic-Based Modulation of Neural Circuitry

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M. D. Serruya, J. P. Harris, D. O. Adewole, L. A. Struzyna, J. C. Burrell, A. D. Nemes, D. Petrov, R. H. Kraft, H. I. Chen, J. A. Wolf, D. K...
Thursday, August 31, 2017

Biogenesis and functions of mammalian iron-sulfur proteins in the regulation of iron homeostasis and pivotal metabolic pathways.

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Tracey A. Rouault and Nunziata Maio; The Journal of Biological Chemistry 292, 12744-12753. doi: 10.1074/jbc.R117.789537 Fe-S cofactors are...
Wednesday, August 30, 2017

Peptide SS-31 upregulates frataxin expression and improves the quality of mitochondria: implications in the treatment of Friedreich ataxia

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Hongting Zhao, Huihui Li, Shuangying Hao, Jiping Chen, Jing Wu, Chuanhui Song, Meng Zhang, Tong Qiao & Kuanyu Li; Scientific Reports 7, ...
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