Friedreich Ataxia Scientific News

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

Tuesday, December 14, 2010

Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function

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Mitochondrion, Article in Press, Accepted Manuscript, doi:10.1016/j.mito.2010.12.003 Mary A. Selak a, Elise Lyver b, Elizabeth Micklow b, ...

Restless legs syndrome in Friedreich ataxia: A polysomnographic study

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Movement Disorders, n/a. doi: 10.1002/mds.22769 (Early View (Articles online in advance of print) Frauscher, B., Hering, S., Högl, B., Gsch...
Sunday, December 12, 2010

US reviews human trial participant protections

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The Lancet, Volume 376, Issue 9757, Pages 1975 - 1976, 11 December 2010, doi:10.1016/S0140-6736(10)62247-7 Nellie Bristol Commission Cha...
Thursday, December 9, 2010

Electrophysiology of Respiratory Chain Complexes and the ADP-ATP Exchanger in Native Mitochondrial Membranes.

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Biochemistry. 2010 Dec 7;49(48):10308-18. Epub 2010 Nov 11. Watzke N, Diekert K, Obrdlik P. IonGate Biosciences GmbH, Industriepark Hoech...
Wednesday, December 8, 2010

Axial diffusivity is increased in the degenerating superior cerebellar peduncles of Friedreich's ataxia.

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Neuroradiology. 2010 Dec 3. [Epub ahead of print] Della Nave R, Ginestroni A, Diciotti S, Salvatore E, Soricelli A, Mascalchi M., S. Giuse...
Tuesday, December 7, 2010

Large-scale in silico modeling of metabolic interactions between cell types in the human brain

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Nature Biotechnology, Year published:(2010), DOI: doi:10.1038/nbt.1711 Nathan E Lewis, Gunnar Schramm, Aarash Bordbar, Jan Schellenberger,...
Monday, December 6, 2010

Taking the lottery out of gene therapy

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NEW SCIENTIST HEALTH ,Magazine issue 2789 GENE therapy should become a more exact science thanks to the discovery that it is possible to p...

Catalysis and Mechanistic Insights into Sirtuin Activation.

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Chembiochem. 2010 Nov 9. [Epub ahead of print]  Dittenhafer-Reed KE, Feldman JL, Denu JM. Department of Biomolecular Chemistry, School of M...

Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells

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J Biol Chem. 2010 Dec 2. [Epub ahead of print] Kumari D, Biacsi RE, Usdin K., NIH, United States. Keywords: Expansion of a GAA·TTC-repea...
Sunday, December 5, 2010

Accelerating orphan drug development

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Nature Reviews Drug Discovery 9, 901-902 (December 2010) | doi:10.1038/nrd3340 Timothy R. Coté, Kui Xu & Anne R. Pariser "Given...
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