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

Thursday, May 14, 2015

Gene therapy possibilities for certain heart diseases

Gene therapy possibilities for certain heart diseases. Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University. By bioethicsnewsbot | May 13, 2015

Pill of super-protective 'heavy' fat may be key to eternal youth

Pill of super-protective 'heavy' fat may be key to eternal youth. 13 May 2015 by Jessica Hamzelou, New Scientist, Issue 3021

Mikhail Shchepinov, director of Retrotope, a biotech company based in Los Altos, California, wants eventually to slow down the ageing process. But he is starting with a related problem – treating the inherited movement disorder Friedreich's ataxia, with which ageing shares a mechanism.

The trial launching in June is a safety study. The team will be checking that the doses of heavy fat are well tolerated by 18 people with Friedreich's ataxia.

Metabolomics in Precision Medicine

Magazine Preview: Metabolomics in Precision Medicine. Ian Clift, Ph.D.; From May 15 Issue:Genetic Engineering & Biotechnology News

Dr. Blair studies Friedreich’s ataxia, a disease caused by a mutation in the gene frataxin or by a triplet GAA expansion in intron 1 of the gene

Wednesday, May 13, 2015

Ageing, neuroinflammation and neurodegeneration

Ageing, neuroinflammation and neurodegeneration. Roberta J Ward, David T. Dexter, Robert R. Crichton; Frontiers in Bioscience, Scholar, 7, 189-204, June 1, 2015