Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia

Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia. Bettina Brendel, Matthis Synofzik, Hermann Ackermann, Tobias Lindig, Theresa Schölderle, Ludger Schöls, Wolfram Ziegler; Journal of Neurology, September 2014. DOI 10.1007/s00415-014-7511-8

Idebenone and neuroprotection: antioxidant, pro-oxidant, or electron carrier?

Idebenone and neuroprotection: antioxidant, pro-oxidant, or electron carrier?. Sausan Jaber, Brian M. Polster; Journal of Bioenergetics and Biomembranes
September 2014 DOI 10.1007/s10863-014-9571-y

A Novel Mouse Model for Friedreich's Ataxia

A Novel Mouse Model for Friedreich's Ataxia. Inventors: Geschwind, Daniel H.; UCLA Office of Intellectual Property & Industry Sponsored Research

This new model exhibits various symptoms observed in FRDA patients, including cardiac atrophy, elevated iron-responsive proteins, neurodegeneration, motor neuropathy–and for the first time in an FRDA model–scoliosis and ataxia.

Next-Generation R&D Partnerships: The NCATS Success Story

Next-Generation R&D Partnerships: The NCATS Success Story , Information Technology and Innovation Foundation.

Free event on Wednesday, October 29, 2014,10:00 AM - 11:30 AM, Rayburn House Office Building 45 Independence Ave SW
(2168) Washington, DC20515

FGF8 Activates Proliferation and Migration in Mouse Post-Natal Oligodendrocyte Progenitor Cells

FGF8 Activates Proliferation and Migration in Mouse Post-Natal Oligodendrocyte Progenitor Cells . Pablo Cruz-Martinez, Almudena Martinez-Ferre, Jesus Jaramillo-Merchán, Alicia Estirado, Salvador Martinez, Jonathan Jones; PLoS ONE 9(9): e108241. doi:10.1371/journal.pone.0108241

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FA Dyclonine Study Review

FA Dyclonine Study Review. Posted: Sep 19 2014, By: Robert Dean

Understanding the frustration arising from the competition between function, misfolding, and aggregation in a globular protein.

Understanding the frustration arising from the competition between function, misfolding, and aggregation in a globular protein. Gianni S, Camilloni C, Giri R, Toto A, Bonetti D, Morrone A, Sormanni P, Brunori M, Vendruscolo M. Proc Natl Acad Sci U S A. 2014 Sep 16. pii: 201405233. [Epub ahead of print]

R2* mapping for brain iron: Associations with cognition in normal aging

R2* mapping for brain iron: Associations with cognition in normal aging; Christine Ghadery, Lukas Pirpamer, Edith Hofer, Christian Langkammer, Katja Petrovic, Marisa Loitfelder, Petra Schwingenschuh, Stephan Seiler, Marco Duering, Eric Jouvent, Helena Schmidt, Franz Fazekas, Jean-Francois Mangin, Hugues Chabriat, Martin Dichgans, Stefan Ropele, Reinhold Schmidt; Neurobiology of Aging, Available online 19 September 2014, ISSN 0197-4580, http://dx.doi.org/10.1016/j.neurobiolaging.2014.09.013.

We found the highest iron concentration in the globus pallidus, and pallidal as well as putaminal iron was significantly and inversely associated with cognitive performance in all cognitive domains, except memory. These associations were iron load-dependent. Vascular brain lesions and brain volume did not mediate the relationship between iron and cognitive performance.

Overlapping Binding Sites of the Frataxin Homologue Assembly Factor and the Heat Shock Protein 70 Transfer Factor on the Isu Iron-sulfur Cluster Scaffold Protein

Overlapping Binding Sites of the Frataxin Homologue Assembly Factor and the Heat Shock Protein 70 Transfer Factor on the Isu Iron-sulfur Cluster Scaffold Protein . Mateusz Manicki, Julia Majewska, Szymon Ciesielski, Brenda Schilke, Anna Blenska, Jacek Kominek, Jaroslaw Marszalek, Elizabeth A. Craig, and Rafal Dutkiewicz; J. Biol. Chem. jbc.M114.596726. First Published on September 16, 2014, doi:10.1074/jbc.M114.596726

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Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery

Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Nunziata Maio, Tracey.A. Rouault; Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Available online 19 September 2014, ISSN 0167-4889, http://dx.doi.org/10.1016/j.bbamcr.2014.09.009.

The tissue- specific phenotypes of FRDA might arise from the critical requirement of specific isoforms of FXN, which may be severely decreased in the disease. Interestingly, two rare frataxin isoforms have been recently identified [198], and their expression was substantially reduced in the heart (isoform III), and cerebellum (isoform II) of a FRDA patient, suggesting that novel expression patterns may explain some FRDA tissue specific phenotypes.

The role of iron in brain ageing and neurodegenerative disorders

The role of iron in brain ageing and neurodegenerative disorders. Roberta J Ward, Fabio A Zucca, Jeff H Duyn, Robert R Crichton, Luigi Zecca; The Lancet Neurology, Volume 13, Issue 10, October 2014, Pages 1045-1060, ISSN 1474-4422, http://dx.doi.org/10.1016/S1474-4422(14)70117-6.

Reimbursement of orphan drugs in Belgium: what (else) matters?

Reimbursement of orphan drugs in Belgium: what (else) matters?. Eline Picavet, David Cassiman and Steven Simoens; Orphanet Journal of Rare Diseases 2014, 9:139 doi:10.1186/s13023-014-0139-z

Excellent analysis of the problem, although the study focuses on the problem of orphan drugs in e Belgium, the findings can be extrapolated to most countries.

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The EMA will depend on the European Commissioner for Industry

New EU president moves regulation of medicines to industry department

Very disturbing news in Europe, The European Medicines Agency (EMA), the European equivalent of the FDA in USA, will depend on the European Commissioner for Industry. For European politicians, business are more important than the health of European citizens.

EN: New EU president moves regulation of medicines to industry department

ES: La EMA dependerá de la comisaría europea de Industria

Nasality in Friedreich ataxia

Nasality in Friedreich ataxia; Matthew L. Poole, Jessica S. Wee, Joanne E. Folker, Louise A. Corben, Martin B. Delatycki, Adam P. Vogel; Clinical Linguistics & Phonetics, Ahead of Print : Pages 1-13 (doi: 10.3109/02699206.2014.954734)

Keywords: Ataxia, dysarthria, hypernasality, hyponasality

Friedreich’s Ataxia: A Neuronal Point of View on the Oxidative Stress Hypothesis

Friedreich’s Ataxia: A Neuronal Point of View on the Oxidative Stress Hypothesis; Carletti, Barbara; Piemonte, Fiorella, Antioxidants 2014, 3, 592-603. doi:10.3390/antiox3030592 (registering DOI)

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Unexpected nerve neuroimaging findings in Friedreich’s ataxia

Unexpected nerve neuroimaging findings in Friedreich’s ataxia. Alessandro Salvalaggio, Mario Cacciavillani, Marta Lucchetta, Renzo Manara, Roberto Gasparotti, Chiara Briani; Clinical Neurophysiology, Available online 8 September 2014, ISSN 1388-2457, http://dx.doi.org/10.1016/j.clinph.2014.08.014.

Our findings may support a myelin involvement in the pathogenic mechanism of the FRDA associated neuropathy. The pathogenesis of axonal loss in FRDA is still not clear and both hypomyelination and slow axonal degeneration may play a role.

Cellular, Molecular and Functional Characterisation of YAC Transgenic Mouse Models of Friedreich Ataxia

Cellular, Molecular and Functional Characterisation of YAC Transgenic Mouse Models of Friedreich Ataxia .Anjomani Virmouni S, Sandi C, Al-Mahdawi S, Pook MA; PLoS ONE 9(9): e107416. doi:10.1371/journal.pone.0107416

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Screening for E3-Ubiquitin ligase inhibitors: challenges and opportunities

Screening for E3-Ubiquitin ligase inhibitors: challenges and opportunities. Vivien Landré, Barak Rotblat, Sonia Melino, Francesca Bernassola and Gerry Melino; Oncotarget, Published: September 03, 2014, Advance Publications

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Another interesting approach to inhibit ubiquitination of a specific substrate is to block the ubiquitination of the target rather than blocking the E3 ligase and therefore the ubiquitination of all its targets. This was demonstrated by a study that identified an inhibitor of the ubiquitination of frataxin, a mitochondrial protein whose downregulation is linked to Friedreich’s ataxia, a neuro-and cardiodegenerative disorder. Lavecchia et al.identified the ubiquitination site on frataxin and modelled the position of ubiquitin on the protein surface using in silico docking programs. Next, they used structure based virtual screening coupled with a cell-based assay of the 13 top hits, and identified a small molecule that disrupts the frataxin-ubiquitin interactions and thereby inhibits frataxin ubiquitination.

Edison's orphan drug (EPI-743) misses the mark in Phase II (Rett syndrome)

Edison's orphan drug (EPI-743) misses the mark in Phase II (Rett syndrome). FierceBiotech (Daily Biotech Industry Newsletter), September 4, 2014

Despite the setback, the biotech is still chugging along with mid-stage studies to chart EPI-743's potential in its lead indications, the rare CNS ailments Friedreich's ataxia and Leigh syndrome.

Muscle synergy stability and human balance maintenance

Muscle synergy stability and human balance maintenance. Tytus Wojtara, Fady Alnajjar, Shingo Shimoda and Hidenori Kimura; Journal of NeuroEngineering and Rehabilitation 2014, 11:129 doi:10.1186/1743-0003-11-129 Published: 30 August 2014

These results suggest that SSI can be used to quantitatively evaluate balance maintenance ability.

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