Science Heroes: Annalisa Pastore: A love story with the double helix that started at 17

Science Heroes: Annalisa Pastore: A love story with the double helix that started at 17. Frontiers Blog, Posted on July 14, 2015

This led her to—at least partially— identify the role of the protein, resulting from the expression of frataxin, in the disease mechanism. These findings could ultimately open the door to designing a new strategy to treat Friedreich’s ataxia, and other neurodegenerative diseases.

Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism.

Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism. Rikke K. J. Olsen, Nanna Cornelius, and Niels Gregersen; J Inherit Metab Dis. 2015; 38(4): 703–719.
Published online 2015 May 30. doi: 10.1007/s10545-015-9861-5

Springer OPEN Choice

Based on our own and other’s studies we re-introduce the ROS triangle model and discuss how inborn errors of mitochondrial metabolism, by production of pathological amounts of ROS, may cause disturbed redox signalling and induce chronic cell stress with non-resolving or compromised cell repair responses and increased susceptibility to cell stress induced cell death.

TORC1 Inhibition by Rapamycin Promotes Antioxidant Defences in a Drosophila Model of Friedreich’s Ataxia

TORC1 Inhibition by Rapamycin Promotes Antioxidant Defences in a Drosophila Model of Friedreich’s Ataxia. Pablo Calap-Quintana, Sirena Soriano, José Vicente Llorens, Ismael Al-Ramahi, Juan Botas, María Dolores Moltó, María José Martínez-Sebastián; PLoS ONE 10(7): e0132376. doi:10.1371/journal.pone.0132376

OPEN ACCESS

We found that genetic reduction in TOR Complex 1 (TORC1) signalling improves the impaired motor performance phenotype of FRDA model flies. Pharmacologic inhibition of TORC1 signalling by rapamycin also restored this phenotype and increased the lifespan and ATP levels. These results point to the TORC1 pathway as a new potential therapeutic target for FRDA and as a guide to finding new promising molecules for disease treatment.

Familial segmental spinal myoclonus: a rare clinical feature of Friedreich’s ataxia

Familial segmental spinal myoclonus: a rare clinical feature of Friedreich’s ataxia. Rajendra Singh Jain, Sunil Kumar and Shankar Tejwani, SpringerPlus 2015, 4:330 doi:10.1186/s40064-015-1121-5

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Spinal segmental myoclonus (SSM) is a unique and rare manifestation of FRDA. This might be the first case report of SSM in FRDA patient.

Dynamics in the sense of dignity over the course of illness: A longitudinal study into the perspectives of seriously ill patients

Dynamics in the sense of dignity over the course of illness: A longitudinal study into the perspectives of seriously ill patients. Isis E. van Gennip, H. Roeline W. Pasman, Mariska G. Oosterveld-Vlug, Dick L. Willems, Bregje D. Onwuteaka-Philipsen; International Journal of Nursing Studies, Available online 27 June 2015, ISSN 0020-7489, http://dx.doi.org/10.1016/j.ijnurstu.2015.06.010.

Single-molecule spectroscopy of protein conformational dynamics in live eukaryotic cells

Single-molecule spectroscopy of protein conformational dynamics in live eukaryotic cells. Iwo König, Arash Zarrine-Afsar, Mikayel Aznauryan, Andrea Soranno, Bengt Wunderlich, Fabian Dingfelder, Jakob C Stüber, Andreas Plückthun, Daniel Nettels & Benjamin Schuler; Nature Methods (2015)doi:10.1038/nmeth.3475 Published online 06 July 2015

Advances in methodology are making it gradually more feasible to investigate biomolecular processes in their native cellular environment. The ultimate goal is to reach quantitative molecular understanding with the same rigor as in test-tube experiments.The results on protein GB1 and frataxin indicated a remarkable robustness in the conformational stabilities and even folding kinetics of these proteins in cells compared to in simple buffered solutions. We therefore expect that single-molecule spectroscopy will play an important role in bridging the gap between our quantitative understanding of biomolecules in vitro and in vivo.


Source: Single-molecule spectroscopy of protein conformational dynamics in live eukaryotic cells

Ultra-structural hair alterations in Friedreich's ataxia: A scanning electron microscopic investigation

Ultra-structural hair alterations in Friedreich's ataxia: A scanning electron microscopic investigation. Turkmenoglu, F. P., Kasirga, U. B. and Celik, H. H., Microsc. Res. Tech.. Article first published online: 3 JUL 2015 doi: 10.1002/jemt.22531

«SARAgrama»: una propuesta de representación gráfica en la evolución de las ataxias

«SARAgrama»: una propuesta de representación gráfica en la evolución de las ataxias. « SARAgraph»: A proposed graphic system for representing ataxia progression . I. Pulido-Valdeolivas, D. Gómez-Andrés, I. Sanz-Gallego, J. Arpa-Gutiérrez, Neurología (English Edition), Available online 11 June 2015,

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.