Letter by Peverill Regarding Article, “The Heart in Friedreich Ataxia: Definition of Cardiomyopathy, Disease Severity, and Correlation With Neurological Symptoms”

Letter by Peverill Regarding Article, “The Heart in Friedreich Ataxia: Definition of Cardiomyopathy, Disease Severity, and Correlation With Neurological Symptoms” , Roger E. Peverill, MB, BS, PhD; Circulation. 2012; 126: e272 doi: 10.1161/CIRCULATIONAHA.112.115287

Keywords: Friedreich ataxia (FA), cardiac disease, premature mortality, cardiomyopathy in FA, left ventricular (LV) mass, interventricular septal thickness.

R- and S-Equol have equivalent cytoprotective effects in Friedreich's Ataxia

R- and S-Equol have equivalent cytoprotective effects in Friedreich's Ataxia, Timothy E Richardson and James W Simpkins, BMC Pharmacology and Toxicology 2012, doi:10.1186/2050-6511-13-12. Published: 22 October 2012

OPEN ACCESS

FULL TEXT PDF

These preliminary data demonstrate that estrogen and soy-derived equols could have a beneficial effect in delaying the onset and decreasing the severity of symptoms in FRDA patients by an antioxidant mechanism. In addition, these data confirm that the protection seen previously with E2 was indeed unrelated to ER binding.

Novel Therapeutic Challenges in Cerebellar Diseases

Novel Therapeutic Challenges in Cerebellar Diseases. Antoni Matilla Dueñas, Carme Serrano, Yerko Ivanovic, Ramiro Alvarez, Pilar Latorre, and David Genıs. Documentos RIBERMOV (19/10/2012)

FULL TEXT PDF

New Project: Developing bone marrow transplant and novel therapeutic vectors to treat Friedreich ataxia

New Project: Developing bone marrow transplant and novel therapeutic vectors to treat Friedreich ataxia.  Professor Martin Delatycki.  Federal Government's National Health and Medical Research Council (NHMRC) funding (Australia).

Chemical and technological delivery systems for idebenone: a review of literature production

Chemical and technological delivery systems for idebenone: a review of literature production. Claudia Carbone, Rosario Pignatello, Teresa Musumeci, and Giovanni Puglisi; Expert Opinion on Drug Delivery, November 2012, Vol. 9, No. 11 : Pages 1377-1392. doi: 10.1517/17425247.2012.724396.

Keywords: antioxidant activity, cyclodextrins, drug delivery systems, lipoamino acids, liposomes, microemulsions, nanoparticles, prodrugs, SLN, solid lipid nanoparticles, Idebenone (IDE).

Reply to Beconi et al.: Oral Administration of the Pimelic Diphenylamide HDAC Inhibitor HDACi 4b Is Unsuitable for Chronic Inhibition of HDAC Activity in the CNS In Vivo

Reply to Beconi et al.: Oral Administration of the Pimelic Diphenylamide HDAC Inhibitor HDACi 4b Is Unsuitable for Chronic Inhibition of HDAC Activity in the CNS In Vivo. Joel M. Gottesfeld and Elizabeth A. Thomas. PLoS ONE 7(9): e44498. doi:10.1371/journal.pone.0044498 Comment posted by joelg on 19 Oct 2012 at 18:39 GMT

Consumers Angry That Genetics Testing Company Has Used Their Data to Obtain a Patent

Consumers Angry That Genetics Testing Company Has Used Their Data to Obtain a Patent. Biotechnology Law Report. October 2012, 31(5): 473-473, doi:10.1089/blr.2012.9711.

Novel Frataxin Isoforms May Contribute to the Pathological Mechanism of Friedreich Ataxia

Novel Frataxin Isoforms May Contribute to the Pathological Mechanism of Friedreich Ataxia. Haiyan Xia1, Yun Cao, Xiaoman Dai, Zvonimir Marelja, Di Zhou, Ran Mo, Sahar Al-Mahdawi, Mark A. Pook, Silke Leimkühler, Tracey A. Rouault, Kuanyu Li; PLoS ONE 7(10): e47847. doi:10.1371/journal.pone.0047847

"Findings highly relevant to understanding the mechanism of tissue-specific pathology in FRDA."

OPEN ACCESS (Thanks!)

FULL TEXT PDF

Molecular mechanisms underlying pathology of Friedreich ataxia and Fragile X syndrome

PhD Research Project: Molecular mechanisms underlying pathology of Friedreich ataxia and Fragile X syndrome. Dr N Gromak, Sir William Dunn School of Pathology, University of Oxford. Application Deadline: 04 January 2013.

Keywords: expanded repeat sequences, Friedreich ataxia, Fragile X syndrome, frataxin (FXN) gene, transcriptional defect, transcriptional silencing.

When secondary comes first – the importance of non-canonical DNA structures

When secondary comes first – the importance of non-canonical DNA structures. Natalie Saini, Yu Zhang, Karen Usdin, Kirill S. Lobachev; Biochimie, Available online 16 October 2012.

Keywords: Triplex, G-quartet, hairpin, cruciform, Holliday junction, RNA:DNA hybrid, replication transcription collision, evolution, polymorphisms and diseases.