A Phenotypic Screen Identifies Cyclic Peptide Compounds that Induce Repeat Expansion in Yeast

A Phenotypic Screen Identifies Cyclic Peptide Compounds that Induce Repeat Expansion in Yeast.Nicholas G. Economos, An honors thesis for the Department of Biology, Tufts University, 2013.

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The iron-sulfur cluster assembly machineries in plants: current knowledge and open questions

The iron-sulfur cluster assembly machineries in plants: current knowledge and open questions. Couturier J, Touraine B, Briat J-F, Gaymard F and Rouhier N, Front. Plant Sci. 4:259. doi: 10.3389/fpls.2013.00259

Review ARTICLE

Keywords: iron-sulfur, assembly machineries, iron donor, repair, scaffold proteins, carrier Proteins, frataxin

Comparison of somatosensory evoked potentials between adolescent idiopathic scoliosis and congenital scoliosis without neural axis abnormalities

Comparison of somatosensory evoked potentials between adolescent idiopathic scoliosis and congenital scoliosis without neural axis abnormalities . Zhijun Chen, Yong Qiu, Weiwei Ma, Bangping Qian, Zezhang Zhu; The Spine Journal, Available online 5 October 2013. DOI: http://dx.doi.org/10.1016/j.spinee.2013.07.465.

Much evidence in recent years has shown neurologic dysfunction to be regarded as an ultimate cause for adolescent idiopathic scoliosis (AIS) and. In growing children, diseases that alter posterior column function (eg, Chiari I malformation, syringomyelia, and Friedreich ataxia) are consistently associated with an idiopathic (rather than a neuromuscular) curve pattern.

Flexible Cavovarus Foot in Children and Adolescents

Flexible Cavovarus Foot in Children and Adolescents. Kelly L. VanderHave, Robert N. Hensinger, Brandon W. King; Foot and Ankle Clinics, Available online 5 October 2013. DOI: http://dx.doi.org/10.1016/j.fcl.2013.08.006

Keywords: Cavovarus feet; Plantar fascia; Calcaneonavicular ligament; Calcaneocuboid ligament; neurologic diseases; Charcot-Marie-Tooth; Friedreich ataxia

Metabolic remodeling in frataxin-deficient yeast is mediated by Cth2 and Adr1

Metabolic remodeling in frataxin-deficient yeast is mediated by Cth2 and Adr1. Armando Moreno-Cermeño, David Alsina, Elisa Cabiscol, Jordi Tamarit, Joaquim Ros. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Available online 5 October 2013. DOI: http://dx.doi.org/10.1016/j.bbamcr.2013.09.019

Keywords: Friedreich ataxia; yeast frataxin; iron; oxidative stress

EFACTS’ (European Friedreich’s Ataxia Consortium for Translational Studies) Annual Newsletter 2013.

EFACTS’ (European Friedreich’s Ataxia Consortium for Translational Studies) Annual Newsletter 2013.

This third issue of EFACTS NEWS presents an update on the status of the EFACTS patient registry as baseline assessments are completed for a core sample of patients. Progress in the various research areas has been made over the past year. Patients are particularly interested in treatment options and may be glad to read that this newsletter contains information on progress in a clinical trial with a potential therapeutic candidate. There have been a number of publications on findings derived from EFACTS projects, which are also presented in this newsletter.

Cognitive Deficits In Friedreich Ataxia Correlate with Micro-structural Changes in Dentatorubral Tract

Cognitive Deficits In Friedreich Ataxia Correlate with Micro-structural Changes in Dentatorubral Tract. Akhlaghi H, Yu J, Corben L, Georgiou-Karistianis N, Bradshaw JL, Storey E, Delatycki MB, Egan GF; Cerebellum (London, England) : 2013 Oct 2 pg. DOI 10.1007/s12311-013-0525-4

Keywords: Friedreich's ataxia, Dentato-rubral tract, Dentato-thalamic tract, Dentate nucleus, Diffusion MRI

Friedreich's Ataxia, Frataxin, PIP5K1B: Echo of a Distant Fracas

Friedreich's Ataxia, Frataxin, PIP5K1B: Echo of a Distant Fracas. Aurélien Bayot and Pierre Rustin, Oxidative Medicine and Cellular Longevity, vol. 2013, Article ID 725635, 7 pages, 2013. doi:10.1155/2013/725635

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Friedreich's Ataxia Active Research Grants funded by MDA (Years 2013,2014,2015,2016)

Friedreich's Ataxia Active Research Grants funded by MDA (Years 2013,2014,2015,2016)

Marek Napierala Ph.D., Correction of the Friedreich’s ataxia gene defect using zinc finger nucleases (2014-2016).

Giovanni Coppola MD, Peripheral Biomarkers in Friedreich's Ataxia (2013-2014).

Ronald Mark Payne M.D., Mechanism of Heart Failure in Friedreich Ataxia (2013-2015).

Jeffrey D. Milbrandt MD, PhD, Manipulating Schwann cell metabolism to treat peripheral neuropathy (2012-2015).

David Lynch MD, PhD, Insulin resistance in Friedreich ataxia (2012-2013)

Joseph Sarsero Ph.D., Development of an improved GAA repeat expansion mouse model of Friedreich ataxia (2012-2014)

Des Richardson Ph.D., D.Sc., Development of Iron Complexes for the Treatment of Friedreich’s Ataxia (2012-2014)

Source: MDA Active Research Grants, CALENDAR YEAR(s): 2013,2014,2015,2016

Association of fibroblast growth factor (FGF-21) as a biomarker with primary mitochondrial disorders, but not with secondary mitochondrial disorders (Friedreich Ataxia)

Association of fibroblast growth factor (FGF-21) as a biomarker with primary mitochondrial disorders, but not with secondary mitochondrial disorders (Friedreich Ataxia) Mohammad Hossein Salehi, Behnam Kamalidehghan, Massoud Houshmand, Omid Aryani, Majid Sadeghizadeh, Mir Majid Mossalaeie. Molecular Biology Reports, September 2013, DOI 10.1007/s11033-013-2767-0

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