Regulation of fatty acid metabolism by mTOR in adult murine hearts occurs independently of changes in PGC-1α

Regulation of fatty acid metabolism by mTOR in adult murine hearts occurs independently of changes in PGC-1α. Yi Zhu, Jamie Soto, Brandon Anderson, Christian Riehle, Yi Cheng Zhang, Adam R Wende, Deborah Jones, Donald A. McClain, and E. Dale Abel, Am J Physiol Heart Circ Physiol ajpheart.00877.2012; published ahead of print April 26, 2013, doi: 10.​1152/​ajpheart.​00877.​2012

In conclusion, mTOR regulates mitochondrial fatty acid utilization but not glucose utilization in the heart via mechanisms that are independent of changes in PGC expression.

Review on Molecular Diagnostic Techniques in Friedreich’s Ataxia

Review on Molecular Diagnostic Techniques in Friedreich’s Ataxia Pravin D. Potdar and Aarthy Raghu; Annual Review & Research in Biology, ISSN: 2231-4776,Vol.: 3, Issue.: 4 (October-December)

Keywords: Friedreich’s ataxia; frataxin; GAA repeats; molecular diagnostics; triplet-repeat primed PCR; real time PCR.

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Multi-Copper Oxidases and Human Iron Metabolism

Multi-Copper Oxidases and Human Iron Metabolism. Vashchenko, G.; MacGillivray, R.T.A.; Nutrients 2013, 5, 2289-2313.

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Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

Newborn screening for lysosomal storage disorders and other neuronopathic conditions.Matern D, Oglesbee D, Tortorelli S.; Dev Disabil Res Rev. 2013 Jun;17(3):247-253. doi: 10.1002/ddrr.1117.

Keywords: Newborn screening (NBS), public health program, 13 lysosomal storage disorders, X-adrenoleukodystrophy, Wilson disease, Friedreich ataxia.

Final Study Record Detail: Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia

Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia. www.clinicaltrials.gov, A service of the U.S. National Institutes of Health.

Study Design:
Allocation: Randomized; Endpoint Classification: Efficacy Study; Intervention Model: Parallel Assignment; Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor); Primary Purpose: Supportive Care

Due to small sample size and considering there are no specific studies in this population with EGb761; calculation with the use of a statistical hypothesis was not possible. Primary efficacy analyses performed on the mITT population and analysis of safety performed on the safety population.

Modelling the endothelial blood-CNS barriers: a method for the production of robust in vitro models of the rat blood--brain barrier and blood-spinal cord barrier

Modelling the endothelial blood-CNS barriers: a method for the production of robust in vitro models of the rat blood--brain barrier and blood-spinal cord barrier. P Marc Watson, Judy C Paterson, George Thom, Ulrika Ginman, Stefan Lundquist and Carl I Webster, BMC Neuroscience 2013, 14:59 doi:10.1186/1471-2202-14-59 Published: 18 June 2013

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"Interesting in vitro model to test if drugs can reach neurons, in Friedreich's ataxia it's a major handicap reach the neurons to improve the neurological symptoms"

Osteopenia and osteoporosis in Friedreich's ataxia

Osteopenia and osteoporosis in Friedreich's ataxia. Nachbauer, W., Eigentler, A., Gasser, R., Poewe, W., Boesch, S.; Movement Disorders 2013;28 Suppl 1 :698

Keywords: osteoporosis, osteopenia, Friedreich ataxia (FRDA), demographic, clinical values, increased risk of fractures, osteodensitometry, wheelchair-bound patients.

Friedreich ataxia: metal dysmetabolism in dorsal root ganglia

Friedreich ataxia: metal dysmetabolism in dorsal root ganglia. Arnulf H Koeppen, Erik C Kuntzsch, Sarah T Bjork, R Liane Ramirez, Joseph E Mazurkiewicz and Paul J Feustel. Acta Neuropathologica Communications 2013, 1:26 doi:10.1186/2051-5960-1-26
Published: 19 June 2013

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Mitochondrial Diseases of the Brain

Mitochondrial Diseases of the Brain. Rajnish K. Chaturvedi, M. Flint Beal. Free Radical Biology and Medicine, Volume 63, October 2013, Pages 1-29. http://dx.doi.org/10.1016/j.freeradbiomed.2013.03.018

Keywords: Parkinson’s disease, Alzheimer’s disease, Huntington’s disease, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth, Friedreich’s ataxia, Neurodegenerative diseases, Mitochondrial dysfunction, Creatine, Co-Q10, PGC-1α, Sirtuins, Free radicals.

Analysis of the visual system in Friedreich ataxia.

Analysis of the visual system in Friedreich ataxia. Seyer LA, Galetta K, Wilson J, Sakai R, Perlman S, Mathews K, Wilmot GR, Gomez CM, Ravina B, Zesiewicz T, Bushara KO, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Balcer LJ, Lynch DR. Journal of neurology : 2013 Jun 18 pg.

Keywords: optical coherence tomography (OCT), contrast letter acuity, GAA repeat length, highly correlated with neurological outcomes, markers of neurologic progression in FRDA.