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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