Friedreich Ataxia: Executive Control Is Related to Disease Onset and GAA Repeat Length

Friedreich Ataxia: Executive Control Is Related to Disease Onset and GAA Repeat Length. Wolfgang Nachbauer, Thomas Bodner, Sylvia Boesch, Elfriede Karner, Andreas Eigentler, Lisa Neier, Thomas Benke, Margarete Delazer. The Cerebellum August 2013, DOI 10.1007/s12311-013-0513-8

Keywords: Friedreich ataxia (FRDA), specific cognitive impairment, GAA repeat size, age of onset, disease duration, executive functions, attention, memory, visual perception.

A little better than placebo is still better than nothing

A little better than placebo is still better than nothing. Adrian S Dobs. Nature Medicine 19, 962 (2013), doi:10.1038/nm0813-962
Published online 06 August 2013

While we wait for a cure, often we are faced with this situation, and we have great difficulty accessing these "light" drugs, but should exist more "specialists" with these ethical principles.

Doctors often dismiss drugs as ineffective if they fail to outperform dummy pills in randomized trials. That's a mistake. When active medicines have few side effects and produce a strong placebo effect, such drugs, even if they prove just slightly better than placebo, should be embraced for the relief they can bring to patients who have few safe alternatives.

Vitamin E: A Dark Horse at the Crossroad of Cancer Management

Vitamin E: A Dark Horse at the Crossroad of Cancer Management. Eduardo Cardenas, Rita Ghosh; Biochemical Pharmacology, Available online 3 August 2013

Although the paper is focused on the cancer, makes a good review of current knowledge about vitamin E, check all its isoforms, metabolism, absorption, transporters, antioxidant potency, etc..

When evaluating the efficacy of vitamin E prophylactic or therapeutic use in previous and future studies, it is critical to consider dosage to be administered, form of vitamin E and source (such as whether from synthetic or purified from natural sources).

The Role of Mitochondria in Cellular Iron–Sulfur Protein Biogenesis: Mechanisms, Connected Processes, and Diseases

The Role of Mitochondria in Cellular Iron–Sulfur Protein Biogenesis: Mechanisms, Connected Processes, and Diseases. Oliver Stehling and Roland Lill.Cold Spring Harb Perspect Biol August 2013;5:a011312

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Frataxin Mutants

Frataxin Mutants. Roberto Testi; Patent US20130196932 A1,1 Ago 2013.

The invention relates to the identification of a mutant frataxin protein and methods of delivering said protein into cells.

His86 from the N-terminus of frataxin coordinates iron and is required for Fe‒S cluster synthesis

His86 from the N-terminus of frataxin coordinates iron and is required for Fe‒S cluster synthesis. Leslie E Gentry , Matthew A Thacker , Reece Doughty , Russell Timkovich , and Laura S. Busenlehner. Biochemistry, Just Accepted Manuscript, DOI: 10.1021/bi400443n. Publication Date (Web): August 2, 2013

The effect of crowding and confinement: a comparison of Yfh1 stability in different environments

The effect of crowding and confinement: a comparison of Yfh1 stability in different environments . Domenico Sanfelice, Anastasia Politou, Stephen R Martin, Paolo De Los Rios, Pierandrea Temussi and Annalisa Pastore. 2013 Phys. Biol. 10 045002 doi:10.1088/1478-3975/10/4/045002

Repligen, Pharmacology data and biomarker activity from our Phase 1 trial in Friedreich's ataxia (FA) patients of our product candidate, RG2833,

Repligen, Pharmacology data and biomarker activity from Phase 1 trial in Friedreich's ataxia (FA) patients of the product candidate, RG2833.. Reuters, Thu Aug 1, 2013

We analyzed the pharmacology data and biomarker activity from our Phase 1 trial in Friedreich's ataxia (FA) patients of our product candidate, RG2833, a compound that interferes with the function of the histone deacetylase (HDAC) class of enzymes. The trial results show that RG2833 was well tolerated and able to improve the expression of frataxin - a disease biomarker – in a dose-dependent manner. While there were no adverse events reported, the generation of potentially toxic metabolites was observed. Overall, the Phase 1 results support the use of an oral HDAC inhibitor in the treatment of FA, however we believe that other compounds in our HDAC inhibitor portfolio may be more suitable than RG2833 for clinical development. Consistent with our focus on bioprocessing, we are seeking non-profit and biopharmaceutical development partners to support future development.

Mitochondrial Ferritin in Neurodegenerative Diseases

Mitochondrial Ferritin in Neurodegenerative Diseases. Hongkuan Yang, Mingchun Yang, Hongpeng Guan, Ziyi Liu, Shiguang Zhao, Shigeko Takeuchi, Daijiro Yanagisawa, Ikuo Tooyama. Neuroscience Research, Available online 31 July 2013. DOI: http://dx.doi.org/10.1016/j.neures.2013.07.005

Keywords: Mitochondrial ferritin (FtMt), testis and the brain, neurodegenerative diseases, Alzheimer's disease, restless legs syndrome, Parkinson's disease, age-related macular degeneration (AMD), Friedreich's ataxia, frataxin, neuroprotective role.

Routine Clinical Testing Underestimates Proprioceptive Deficits in Friedreich's Ataxia.

Routine Clinical Testing Underestimates Proprioceptive Deficits in Friedreich's Ataxia. Borchers S, Synofzik M, Kiely E, Himmelbach M., Cerebellum. 2013 Jul 27. DOI: http://dx.doi.org/10.1007/s12311-013-0508-5

Keyword: Friedreich's ataxia (FA), degeneration of dorsal root ganglia neurons, proprioceptive deficits, monitoring of disease progression, drug trials, clinical tests for joint position sense (JPS), vibration sense (VS), spatial position sense (SPS).