Thursday, May 28, 2015

Frataxin accelerates [2Fe-2S] cluster formation on the human Fe-S assembly complex

Frataxin accelerates [2Fe-2S] cluster formation on the human Fe-S assembly complex. Nicholas G. Fox , Deepika Das , Mrinmoy Chakrabarti , Paul Alan Lindahl , and David P. Barondeau, Biochemistry, Just Accepted Manuscript DOI: 10.1021/bi5014497 Publication Date (Web): May 27, 2015

Nuclear-mitochondrial proteins: too much to process

Nuclear-mitochondrial proteins: too much to process. Rita Horvath , Patrick F. Chinnery, Brain First published online: 26 May 2015, DOI: http://dx.doi.org/10.1093/brain/awv072 1451-1453



Trinucleotide repeat expansions and point mutations in FXN, which codes for frataxin, cause the most common form of autosomal recessive ataxia—Friedreich’s ataxia—providing a link between PMPCA and the ataxia affecting the 17 patients described by Jobling et al.

Tuesday, May 26, 2015

Inhibition of the tyrosine kinase Src might be a new strategy for treating Friedreich ataxia

Inhibition of the tyrosine kinase Src might be a new strategy for treating Friedreich ataxia. Nature Reviews Neurology (2015) Research Highlight-In brief, doi:10.1038/nrneurol.2015.89 Published online 26 May 2015

Original article Cherubini, F. et al. Src inhibitors modulate frataxin protein levels. Hum. Mol. Genet. doi:10.1093/hmg/ddv162

Friday, May 22, 2015

Turning Escherichia coli into a Frataxin-Dependent Organism

Turning Escherichia coli into a Frataxin-Dependent Organism. Roche B, Agrebi R, Huguenot A, Ollagnier de Choudens S, Barras F, Py B (2015), PLoS Genet 11(5): e1005134. doi:10.1371/journal.pgen.1005134

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Thursday, May 21, 2015

Trading Places—Switching Frataxin Function by a Single Amino Acid Substitution within the [Fe-S] Cluster Assembly Scaffold

Trading Places—Switching Frataxin Function by a Single Amino Acid Substitution within the [Fe-S] Cluster Assembly Scaffold. Dean DR, Dos Santos PC (2015) PLoS Genet 11(5): e1005192. doi:10.1371/journal.pgen.1005192

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Turning Saccharomyces cerevisiae into a Frataxin-Independent Organism

Turning Saccharomyces cerevisiae into a Frataxin-Independent Organism. Yoon H, Knight SAB, Pandey A, Pain J, Turkarslan S, Pain D, Andrew Dancis. (2015) PLoS Genet 11(5): e1005135. doi:10.1371/journal.pgen.1005135

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Wednesday, May 20, 2015

Use of MAPK pathway inhibitors for the treatment of Friedreich Ataxia

Use of MAPK pathway inhibitors for the treatment of Friedreich Ataxia . University of Pennsylvania, posted on 05/19/2015

Brief Description: A novel treatment for rare disease Friedreich ataxia using p38 or MK2 kinase inhibitors

A First in Human Study of RT001 in Patients With Friedreich's Ataxia

A First in Human Study of RT001 in Patients With Friedreich's Ataxia.ClinicalTrials.gov Identifier: NCT02445794, Sponsor: Retrotope, Inc.

Study Type: Interventional
Study Design: Allocation: Randomized
Endpoint Classification: Safety Study
Intervention Model: Parallel Assignment
Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor)
Primary Purpose: Treatment

Estimated Enrollment: 18
Study Start Date: July 2015
Estimated Study Completion Date: February 2016
Estimated Primary Completion Date: January 2016 (Final data collection date for primary outcome measure)

The Cardiomyopathy in Friedreich’s Ataxia – New Biomarker for Staging Cardiac Involvement

The Cardiomyopathy in Friedreich’s Ataxia – New Biomarker for Staging Cardiac Involvement. Frank Weidemann, Dan Liu, Kai Hu, Cristiane Florescu, Markus Niemann, Sebastian Herrmann, Bastian Kramer, Stephan Klebe, Kathrin Doppler, Nurcan Üçeyler, Christian Oliver Ritter, Georg Ertl, Stefan Störk, International Journal of Cardiology, Available online 15 May 2015, ISSN 0167-5273, http://dx.doi.org/10.1016/j.ijcard.2015.05.074.

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A biomarker for determining mitochondrial damage in friedreich's ataxia

A biomarker for determining mitochondrial damage in friedreich's ataxia. Patent WO 2013130964, Pub. No.: WO/2013/130964, International Application No.: PCT/US2013/028609, Publication Date: 06.09.2013, International Filing Date: 01.03.2013

Applicants:INDIANA UNIVERSITY RESEARCH & TECHNOLOGY CORPORATION
Inventors: PAYNE, Ronald Mark; (US), WAGNER, Gregory R.; (US), BABBEY, Clifford M.; (US), PRIDE, P. Melanie; (US)

The compositions and methods include determining the acetylation status of mitochondrial proteins