Friedreich's footprint. Steven Goodrick, The Lancet Neurology, Volume 14, Issue 2, February 2015, Page 141, ISSN 1474-4422, http://dx.doi.org/10.1016/S1474-4422(15)70005-0.
We can only hope that the time to a treatment or cure will not be so long.
Monday, January 12, 2015
Mitochondrial proteases and protein quality control in ageing and longevity
Mitochondrial proteases and protein quality control in ageing and longevity. Marie-Paule Hamon, Anne-Laure Bulteau, Bertrand Friguet, Ageing Research Reviews, Available online 8 January 2015, ISSN 1568-1637, http://dx.doi.org/10.1016/j.arr.2014.12.010.
Concomitant increased Lon and ClpP levels and loss of mitochondrial Fe-S proteins have been found in the muscle creatine kinase mouse heart model for Friedreich ataxia. To our knowledge, no Lon mutation has been identified to date in patients enabling the determination of a phenotype associated with a Lon defect. Nevertheless, its involvement in age-related and other diseases may consider using it as target for anti-ageing strategy or disease treatments.
Variations in ClpP levels have been noted in hereditary spastic paraplegia and Friedreich ataxia. As for Lon, due to its its involvement in age-related and other diseases, the Clp protease may be considered as a target for disease treatments or anti-ageing strategy.
Concomitant increased Lon and ClpP levels and loss of mitochondrial Fe-S proteins have been found in the muscle creatine kinase mouse heart model for Friedreich ataxia. To our knowledge, no Lon mutation has been identified to date in patients enabling the determination of a phenotype associated with a Lon defect. Nevertheless, its involvement in age-related and other diseases may consider using it as target for anti-ageing strategy or disease treatments.
Variations in ClpP levels have been noted in hereditary spastic paraplegia and Friedreich ataxia. As for Lon, due to its its involvement in age-related and other diseases, the Clp protease may be considered as a target for disease treatments or anti-ageing strategy.
Sunday, January 11, 2015
Friedreich Ataxia: Failure of GABA-ergic and Glycinergic Synaptic Transmission in the Dentate Nucleus.
Friedreich Ataxia: Failure of GABA-ergic and Glycinergic Synaptic Transmission in the Dentate Nucleus. Koeppen, Arnulf H. MD; Ramirez, R. Liane MS; Becker, Alyssa B. BA; Feustel, Paul J. PhD; Mazurkiewicz, Joseph E. PhD; Journal of Neuropathology & Experimental Neurology, January 8, 2015, doi: 10.1097/NEN.0000000000000160
Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability
Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability. Viktoria Désirée Paul, Roland Lill, Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Available online 10 January 2015, ISSN 0167-4889, http://dx.doi.org/10.1016/j.bbamcr.2014.12.018.
Friday, January 9, 2015
Isotope-Reinforced Polyunsaturated Fatty Acids Protect Mitochondria from Oxidative Stress
Isotope-Reinforced Polyunsaturated Fatty Acids Protect Mitochondria from Oxidative Stress. Alexander Y. Andreyev, Hui S. Tsui, Ginger L. Milne, Vadim V. Shmanai, Andrei V. Bekish, Maksim A. Fomich, Minhhan N. Pham, Yvonne Nong, Anne N. Murphy, Catherine F. Clarke, Mikhail S. Shchepinov, Free Radical Biology and Medicine, Available online 8 January 2015, ISSN 0891-5849, http://dx.doi.org/10.1016/j.freeradbiomed.2014.12.023.
Gait and Balance in Adults with Friedreich's Ataxia
Gait and Balance in Adults with Friedreich's Ataxia. Jeannie Stephenson, Theresa Zesiewicz, Clifton Gooch, Lynn Wecker, Kelly Sullivan, Israt Jahan, Seok Hun Kim, Gait & Posture, Available online 8 January 2015, ISSN 0966-6362, http://dx.doi.org/10.1016/j.gaitpost.2015.01.002.
Wednesday, January 7, 2015
A novel model for brain iron uptake: introducing the concept of regulation
A novel model for brain iron uptake: introducing the concept of regulation. Ian A Simpson, Padmavathi Ponnuru, Marianne E Klinger, Roland L Myers, Kavi Devraj, Christopher L Coe, Gabriele R Lubach, Anthony Carruthers and James R Connor, Journal of Cerebral Blood Flow & Metabolism (2015) 35, 48–57; doi:10.1038/jcbfm.2014.168; published online 15 October 2014
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Full text PDF
Monday, January 5, 2015
Friedreich's ataxia: the European consortium
Friedreich's ataxia: the European consortium. David R Lynch, Susan L Perlman, The Lancet Neurology, Available online 5 January 2015, ISSN 1474-4422, http://dx.doi.org/10.1016/S1474-4422(14)70327-8.
Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data
Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data. Kathrin Reetz, Imis Dogan, Ana S Costa, Manuel Dafotakis, Kathrin Fedosov, Paola Giunti, Michael H Parkinson, Mary G Sweeney, Caterina Mariotti, Marta Panzeri, Lorenzo Nanetti, Javier Arpa, Irene Sanz-Gallego, Alexandra Durr, Perrine Charles, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Ivan Karin, Chantal Depondt, Jennifer Müller vom Hagen, Ludger Schöls, Ilaria A Giordano, Thomas Klockgether, Katrin Bürk, Massimo Pandolfo, Jörg B Schulz. In Press, Corrected Proof, Available online 5 January 2015, DOI: http://dx.doi.org/10.1016/S1474-4422(14)70321-7
The Impact of Base Excision DNA Repair in Age-Related Neurodegenerative Diseases
The Impact of Base Excision DNA Repair in Age-Related Neurodegenerative Diseases. Giovana S. Leandro, Peter Sykora, Vilhelm A. Bohr, Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Available online 4 January 2015, ISSN 0027-5107, http://dx.doi.org/10.1016/j.mrfmmm.2014.12.011.
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