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

MRI abnormalities of the cerebellar cortex and nuclei in SCA3, SCA6, and Friedreich’s ataxia. M.R. Stefanescu, M. Dohnalek, S. Maderwald, M. Thürling, M. Minnerop, A. Beck, M. Schlamann, J. Diedrichsen, M.E. Ladd, D. Timmann, Clinical Neurophysiology, Volume 126, Issue 8, August 2015, Page e73, ISSN 1388-2457, http://dx.doi.org/10.1016/j.clinph.2015.04.094

Do large purine repeat sequences play a role in transcriptional regulation of genes associated with neurological disorders?

Do large purine repeat sequences play a role in transcriptional regulation of genes associated with neurological disorders?. Himanshu Narayan Singh, Moganty R. Rajeswari, Gene, Available online 3 July 2015, ISSN 0378-1119, http://dx.doi.org/10.1016/j.gene.2015.07.007.

Iron-Starvation-Induced Mitophagy Mediates Lifespan Extension upon Mitochondrial Stress in C. elegans

Iron-Starvation-Induced Mitophagy Mediates Lifespan Extension upon Mitochondrial Stress in C. elegans. Alfonso Schiavi, Silvia Maglioni, Konstantinos Palikaras, Anjumara Shaik, Flavie Strapazzon, Vanessa Brinkmann, Alessandro Torgovnick, Natascha Castelein, Sasha De Henau, Bart P. Braeckman, Francesco Cecconi, Nektarios Tavernarakis, Natascia Ventura; Current Biology, Available online 2 July 2015, ISSN 0960-9822, http://dx.doi.org/10.1016/j.cub.2015.05.059.

Mitochondrial autophagy is an evolutionarily conserved response to frataxin silencing, mitophagy is activated in response to mitochondrial stress. Mitophagy induction is part of an adaptive iron starvation response induced as a protective mechanism against mitochondrial stress, thus suggesting novel potential therapeutic strategies for the treatment of mitochondrial disorders.

Targeting lipid peroxidation and mitochondrial imbalance in Friedreich's ataxia

Targeting lipid peroxidation and mitochondrial imbalance in Friedreich's ataxia. Rosella Abeti, Ebru Uzun, Indhushri Renganathan, Tadashi Honda, Mark A. Pook, Paola Giunti, Pharmacological Research, Available online 2 July 2015, ISSN 1043-6618, http://dx.doi.org/10.1016/j.phrs.2015.05.015.

Two different categories of protective compounds: deuterised poly-unsaturated fatty acids (dPUFAs) and Nrf2-inducers have been shown to protect the cell from damage induced by lipid peroxidation and the latter trigger Nrf2 antioxidant pathway.

Keep the fire burning: Current avenues in the quest of treating mitochondrial disorders

Keep the fire burning: Current avenues in the quest of treating mitochondrial disorders. Christin Tischner, Tina Wenz, Mitochondrion, Available online 30 June 2015, ISSN 1567-7249, http://dx.doi.org/10.1016/j.mito.2015.06.002.

Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells

Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells. Shira Yanovsky-Dagan, Hagar Mor-Shaked and Rachel Eiges, World J Stem Cells 2015 June 26; 7(5): 823-838

Frataxin levels in peripheral tissue in Friedreich ataxia

Frataxin levels in peripheral tissue in Friedreich ataxia. Lazaropolous, M., Dong, Y., Clark, E., Greeley, N. R., Seyer, L. A., Brigatti, K. W., Christie, C., Perlman, S. L., Wilmot, G. R., Gomez, C. M., Mathews, K. D., Yoon, G., Zesiewicz, T., Hoyle, C., Subramony, S. H., Brocht, A. F., Farmer, J. M., Wilson, R. B., Deutsch, E. C. and Lynch, D. R.; Annals of Clinical and Translational Neurology. doi: 10.1002/acn3.225

Breaking bad: R-loops and genome integrity

Breaking bad: R-loops and genome integrity. Julie Sollier, Karlene A. Cimprich, Trends in Cell Biology, Available online 1 June 2015, ISSN 0962-8924, http://dx.doi.org/10.1016/j.tcb.2015.05.003.

How a patient advocacy group developed the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration

How a patient advocacy group developed the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration. Pat Furlong, John F. P. Bridges, Lawrence Charnas, Justin R. Fallon, Ryan Fischer, Kevin M. Flanigan, Timothy R. Franson, Neera Gulati, Craig McDonald, Holly Peay and H. Lee Sweeney; Orphanet Journal of Rare Diseases 2015, 10:82 doi:10.1186/s13023-015-0281-2 Published: 24 June 2015

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Transcription blockage by stable H-DNA analogs in vitro

Transcription blockage by stable H-DNA analogs in vitro. Shristi Pandey, Anna M. Ogloblina, Boris P. Belotserkovskii, Nina G. Dolinnaya, Marianna G. Yakubovskaya, Sergei M. Mirkin and Philip C. Hanawalt, Nucl. Acids Res. (2015) doi: 10.1093/nar/gkv622 First published online: June 22, 2015

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Formation of H-DNA has been implicated in transcription blockage by expanded (GAA)n repeats responsible for the human genetic disease Friedreich's ataxia