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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