Friedreich Ataxia Scientific News

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

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...
Thursday, July 14, 2016

Downregulation of GSTK1 Is a Common Mechanism Underlying Hypertrophic Cardiomyopathy

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Nishimura Yuhei, Sasagawa Shota, Okabe Shiko, Murakami Soichiro, Ashikawa Yoshifumi, Yuge Mizuki, Kawaguchi Koki, Kawase Reiko, Okamoto Ryuj...
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