Friedreich Ataxia Scientific News

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

Wednesday, July 27, 2016

The Replication of Frataxin Gene Is Assured by Activation of Dormant Origins in the Presence of a GAA-Repeat Expansion

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Stevanoni M, Palumbo E, Russo A (2016). PLoS Genet 12(7): e1006201. doi:10.1371/journal.pgen.1006201 Open access (Creative Commons Attribu...
Tuesday, July 26, 2016

Progression of Friedreich ataxia: quantitative characterization over 5 years

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Patel, M., Isaacs, C. J., Seyer, L., Brigatti, K., Gelbard, S., Strawser, C., Foerster, D., Shinnick, J., Schadt, K., Yiu, E. M., Delatycki,...
Monday, July 25, 2016

Non-coding RNAs as drug targets

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Masayuki Matsui & David R. Corey, Nature Reviews Drug Discovery (2016), doi:10.1038/nrd.2016.117 The ability of ncRNAs to control gen...
Sunday, July 24, 2016

A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)

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ClinicalTrials.gov Identifier: NCT02840669, First received: July 19, 2016 Locations: Hôpital Pitié-Salpêtrière, Paris, France, Sponsors an...
Friday, July 22, 2016

Labile Low-Molecular-Mass Metal Complexes in Mitochondria: Trials and Tribulations of a Burgeoning Field

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Paul A. Lindahl and Michael J. Moore, Biochemistry, Article ASAP, DOI: 10.1021/acs.biochem.6b00216, Publication Date (Web): July 19, 2016 ...
Thursday, July 21, 2016

Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease

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Soriano S, Calap-Quintana P, Llorens JV, Al-Ramahi I, Gutiérrez L, Martínez-Sebastián MJ, Juan Botas, María Dolores Moltó. PLoS ONE 11(7): ...
Wednesday, July 20, 2016

Crystal Structure of Bacillus subtilis Cysteine Desulfurase SufS and Its Dynamic Interaction with Frataxin and Scaffold Protein SufU

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Blauenburg B, Mielcarek A, Altegoer F, Fage CD, Linne U, Bange G, Mohamed A. Marahiel. PLoS ONE 11(7): e0158749. doi:10.1371/journal.pone.01...
Tuesday, July 19, 2016

Frenkel: one of the forerunners of neurorehabilitation? / Frenkel: ¿un precursor de la neurorrehabilitación?

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Cano-de-la-Cuerda R, Rev Neurol. 2016 Jul 16;63(2):79-84. [Article in Spanish] Neurorehabilitation is understood as the process intended...
Sunday, July 17, 2016

Cerebellar Dysfunction and Ataxia in Patients with Epilepsy: Coincidence, Consequence, or Cause?

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Filip P, Bareš M, Brázdil M.; Tremor Other Hyperkinet Mov. 2016; 6. doi: 10.7916/D8KH0NBT Open-access  (article distributed under the ter...
Saturday, July 16, 2016

Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich’s Ataxia Cells

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Jeannine Gerhardt, Angela D. Bhalla, Jill Sergesketter Butler, James W. Puckett, Peter B. Dervan, Zev Rosenwaks, Marek Napierala, Cell Repor...
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