Oral Administration of the Pimelic Diphenylamide HDAC Inhibitor HDACi 4b Is Unsuitable for Chronic Inhibition of HDAC Activity in the CNS In Vivo

Oral Administration of the Pimelic Diphenylamide HDAC Inhibitor HDACi 4b Is Unsuitable for Chronic Inhibition of HDAC Activity in the CNS In Vivo. Beconi M, Aziz O, Matthews K, Moumné L, O’Connell C, et al., PLoS ONE 7(9): e44498. doi:10.1371/journal.pone.0044498 (2012)
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 Keywords: Histone deacetylase (HDAC) inhibitors, neurological disorders, pimelic diphenylamide HDAC inhibitors, Friedreich’s ataxia, Huntington’s disease.

SIRT3 Regulation of Mitochondrial Oxidative Stress

SIRT3 Regulation of Mitochondrial Oxidative Stress. Alexandra S. Bause, Marcia C. Haigis; Experimental Gerontology, Available online 31 August 2012

Keywords: Mitochondria, reactive oxygen species, metabolism, energy production, mitochondrial ROS detoxification, mitochondrial sirtuin, SIRT3, mitochondrial ROS homeostasis.

Mitochondrion-toxic drugs given to patients with mitochondrial psychoses

Mitochondrion-toxic drugs given to patients with mitochondrial psychoses. Josef Finsterer; Behavioral and Brain Functions 2012, 8:45 doi:10.1186/1744-9081-8-45

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Drugs toxicity is always an added concern in diseases like FA which show greatly diminished mitochondrial function.

Neuro-orthopaedic evaluation of children and adolescents: A simplified algorithm

Neuro-orthopaedic evaluation of children and adolescents: A simplified algorithm ; J. Cottalorda, P. Violas, R. Seringe, the French Society of Pediatric Orthopaedics. Orthopaedics & Traumatology: Surgery & Research, Available online 30 August 2012

Orthopaedic surgeons are often the first physicians to evaluate paediatric patients in the event of delayed walking, gait abnormalities, or parental concern about motor abilities......

Friedreich’s ataxia in patients with FXN p.R165P point mutation

Friedreich’s ataxia in patients with FXN p.R165P point mutation. E. Ygland, F. Taroni, C. Gellera, M. Duno, P. Johnels, M. Soller, A. Puschmann; Neurogenetics, EFNS European Journal of Neurology 19 (Suppl. 1), 458–807.

Keywords: Friedreich’s ataxia (FRDA), postural ataxia, dysarthria, neuropathy, muscle weakness, cardiomyopathy, frataxin, GAA trinucleotide expansions in FXN, point mutation, FXN p.R165P missense mutation, FRDA rating scale (FARS), hemochromatosis, iron metabolism.

Friedreich’s ataxia with GAA expansion and ataxia with vitamin E deficiency with 744 DelA mutation in a Moroccan population.

Friedreich’s ataxia with GAA expansion and ataxia with vitamin E deficiency with 744 DelA mutation in a Moroccan population. F. Imounan, N. Bouslam, W. Regragui, E.H. Ait Benhaddou, A. Bouhouche, A. Benomar, M. Yahyaoui, Neurogenetics Study Group; Neurogenetics, EFNS European Journal of Neurology 19 (Suppl. 1), 458–807.

Keywords: Friedreich’s ataxia, ataxia with vitamin E deficiency (AVED), 744 delA mutation, GAA expanded allele, alphatocopherol treatment.

T.P.15 An open label clinical pilot study of resveratrol as a treatment for Friedreich ataxia

T.P.15 An open label clinical pilot study of resveratrol as a treatment for Friedreich ataxia. E.M. Yiu, R. Peverill, G. Tai, C. Stockley, J. Sarsero, M. Evans-Galea, A. Churchyard, L. Corben, K. Lee, M.M. Ryan, M.B. Delatycki; Neuromuscular Disorders, Volume 22, Issues 9–10, October 2012, Page 851

Keywords: Friedreich ataxia (FRDA), Resveratrol, plant-derived compound, frataxin expression, anti-oxidant, neuroprotective, open-label sequential clinical pilot study, lymphocyte frataxin levels, FXN mRNA expression, markers of oxidative stress, clinical measures of FRDA, echocardiography, safety, pharmacokinetic data.

"SILEC: A new tool to study mitochondrial and metabolic disease"

"SILEC: A new tool to study mitochondrial and metabolic disease" . Sankha S Basu, University of Pennsylvania (January 1, 2012). Dissertations available from ProQuest. Paper AAI3508967. http://repository.upenn.edu/dissertations/AAI3508967

Keywords: Coenzyme A (CoA), CoA thioesters, Stable Isotope Labeling with Essential nutrients in Cell culture (SILEC), [13C15N]-pantothenate, glutathione-CoA (CoASSG), Friedreich's Ataxia (FA), frataxin, novel biomarkers.

A Review of Friedreich Ataxia Clinical Trial Results

A Review of Friedreich Ataxia Clinical Trial Results; Susan L. Perlman, MD; J Child Neurol September 2012 vol. 27 no. 9 1217-1222, doi: 10.1177/0883073812453872

Keywords: therapeutic agents, Friedreich ataxia research pipeline (http://www.curefa.org/pipeline.html), frataxin gene, ClinicalTrials.gov, translational and clinical research.

Resonancia Magnética Nuclear de cráneo en primeras familias cubanas diagnosticadas con ataxia de Friedreich

Resonancia Magnética Nuclear de cráneo en primeras familias cubanas diagnosticadas con ataxia de Friedreich; Tania Cruz Mariño, José Alberto Álvarez Cuesta, Raúl Aguilera Rodríguez, Luis Velásquez Pérez; Ciencias Holguín, Revista trimestral, Año XVII, Enero-marzo, 2011.

Nuclear Magnetic Resonance skull in Cuban families first diagnosed with Friedreich's ataxia

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Keywords: RESONANCIA MAGNÉTICA NUCLEAR; ATAXIA DE FRIEDREICH; ATAXIAS HEREDITARIAS; NUCLEAR MAGNETIC RESONANCE, FRIEDREICH'S ATAXIA, HEREDITARY ATAXIA.