Metabolic approaches to Friedreich ataxia

Project Information: Metabolic approaches to Friedreich ataxia. LYNCH, DAVID ROBINSON, Recieved:02-Apr-2015

Project Information

PUBLIC HEALTH RELEVANCE: The present proposal will investigate the metabolic causes of the disease Friedreich ataxia, concentrating on fatty acid metabolism. If successful, this will lea to new treatments for the disorder and new ways to follow the disease.

Mitoferrin modulates iron toxicity in a drosophila model of Friedreich´s ataxia

Mitoferrin modulates iron toxicity in a drosophila model of Friedreich´s ataxia. Juan A. Navarro, Jose A. Botella, Christoph Metzendorf, Maria I. Lind, Stephan Schneuwly, Free Radical Biology and Medicine, Available online 2 April 2015, ISSN 0891-5849, http://dx.doi.org/10.1016/j.freeradbiomed.2015.03.014.

Friedreich's ataxia – a case of aberrant transcription termination?

Friedreich's ataxia – a case of aberrant transcription termination?. Jill Sergesketter Butler & Marek Napierala; Transcription. 2015 Apr 1:0. DOI:10.1080/21541264.2015.1026538

Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich’s ataxia

Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich’s ataxia. Maria R. Stefanescu , Moritz Dohnalek , Stefan Maderwald , Markus Thürling , Martina Minnerop , Andreas Beck , Marc Schlamann , Joern Diedrichsen , Mark E. Ladd , Dagmar Timmann
Brain. 2015 Mar 28, DOI: http://dx.doi.org/10.1093/brain/awv064 First published online: 28 March 2015

Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells

Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells. Ana M. Silva, Jill M. Brown, Veronica J. Buckle, Richard Wade-Martins and Michele M.P. Lufino; Hum. Mol. Genet. (2015) doi: 10.1093/hmg/ddv096 First published online: March 26, 2015

BioBlast Pharma Announces Positive Preclinical Proof-of-Concept Results of Its Novel Mitochondrial Protein Replacement Platform in Friedreich's Ataxia

BioBlast Pharma Announces Positive Preclinical Proof-of-Concept Results of Its Novel Mitochondrial Protein Replacement Platform in Friedreich's Ataxia. GlobeNewswire, March 26, 2015 Source: BioBlast Pharma.

In in-vitro studies performed in Friedreich's Ataxia patients' cells, BB-FA successfully penetrated the mitochondria and restored the damaged mitochondrial functions to close to normal levels
In two different mouse models, BB-FA rescued both brain and heart tissues, returning their activity to near normal function. BB-FA induced weight gain, prevented the development of heart disease (commonly the cause of death in Friedreich's Ataxia patients) and increased survival.

Catabasis Pharmaceuticals to Present at International Ataxia Research Conference

Catabasis Pharmaceuticals to Present at International Ataxia Research Conference. CAMBRIDGE, Mass.--(BUSINESS WIRE)--

Andrew Nichols, Ph.D., vice president, head of research at Catabasis, will present a poster titled “CAT-4001, a Novel Nrf2 Activator and NF-kB Inhibitor, for the Treatment of Friedreich’s Ataxia.” The poster will be presented on Friday, March 27, 2015, from 12:00pm to 2:00pm GMT.

Gene and cell therapy for neurogenetic disease: hope through research

Gene and cell therapy for neurogenetic disease: hope through research. INTERNATIONAL INNOVATION, Dr Marguerite Evans-Galea PhD, Murdoch Childrens Research Institute, Melbourne, Australia; Executive Member, Australasian Gene and Cell Therapy Society

AMELIORATION OF THE EFFECTS OF FRIEDRIECH'S ATAXIA .

AMELIORATION OF THE EFFECTS OF FRIEDRIECH'S ATAXIA. Applicants: WILSON, Robert, B., COTTICELLI, M., Grazia CRABBE, Andrew, M. Publication Date: 26.02.2015

The effects of Friedreich's Ataxia are ameliorated by administering to a patient known or suspected of having the disease with essentially free cis Δ9 fatty acid having from 12 to 24 carbon atoms and a single double bond in a cis configuration at the C9 carbon atom

Modelling sarcomeric cardiomyopathies in the dish: from human heart samples to iPSC cardiomyocytes.

Modelling sarcomeric cardiomyopathies in the dish: from human heart samples to iPSC cardiomyocytes. Thomas Eschenhagen, Christine Mummery and Bjorn C. Knollmann. Cardiovasc Res. 2015 April 1; 105(4): 424–438. doi: 10.1093/cvr/cvv017

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