Facilitating the development of gene therapies

Facilitating the development of gene therapies. The European Medicines Agency (EMA). 20/05/2015


EMA invites feedback on its new draft guideline


Draft guideline on the quality, non-clinical and clinical aspects of gene therapy medicinal products

Delivery of the 135 kb human frataxin genomic DNA locus gives rise to different frataxin isoforms

Delivery of the 135 kb human frataxin genomic DNA locus gives rise to different frataxin isoforms. S. Pérez-Luz, A. Gimenez-Cassina, I. Fernández-Frías, R. Wade-Martins, J. Díaz-Nido, Genomics, Available online 28 May 2015, ISSN 0888-7543, http://dx.doi.org/10.1016/j.ygeno.2015.05.006.

Cerebellar damage impairs the self-rating of regret feeling in a gambling task

Cerebellar damage impairs the self-rating of regret feeling in a gambling task. Clausi S, Coricelli G, Pisotta I, Pavone EF, Lauriola M, Molinari M and Leggio M (2015); Front. Behav. Neurosci. 9:113. doi: 10.3389/fnbeh.2015.00113

Seminar: Dr. Javier Díaz-Nido, Friedreich's Ataxia as model for neurodegenerative diseases: From molecular biology to the quest for therapies

Seminar: Dr. Javier Díaz-Nido, Friedreich's Ataxia as model for neurodegenerative diseases: From molecular biology to the quest for therapies. 2015-06-0414:00 Petrén lecture hall, Nobels väg 12b (Solna).Campus Solna

Frataxin accelerates [2Fe-2S] cluster formation on the human Fe-S assembly complex

Frataxin accelerates [2Fe-2S] cluster formation on the human Fe-S assembly complex. Nicholas G. Fox , Deepika Das , Mrinmoy Chakrabarti , Paul Alan Lindahl , and David P. Barondeau, Biochemistry, Just Accepted Manuscript DOI: 10.1021/bi5014497 Publication Date (Web): May 27, 2015

Nuclear-mitochondrial proteins: too much to process

Nuclear-mitochondrial proteins: too much to process. Rita Horvath , Patrick F. Chinnery, Brain First published online: 26 May 2015, DOI: http://dx.doi.org/10.1093/brain/awv072 1451-1453



Trinucleotide repeat expansions and point mutations in FXN, which codes for frataxin, cause the most common form of autosomal recessive ataxia—Friedreich’s ataxia—providing a link between PMPCA and the ataxia affecting the 17 patients described by Jobling et al.

Inhibition of the tyrosine kinase Src might be a new strategy for treating Friedreich ataxia

Inhibition of the tyrosine kinase Src might be a new strategy for treating Friedreich ataxia. Nature Reviews Neurology (2015) Research Highlight-In brief, doi:10.1038/nrneurol.2015.89 Published online 26 May 2015

Original article Cherubini, F. et al. Src inhibitors modulate frataxin protein levels. Hum. Mol. Genet. doi:10.1093/hmg/ddv162

Turning Escherichia coli into a Frataxin-Dependent Organism

Turning Escherichia coli into a Frataxin-Dependent Organism. Roche B, Agrebi R, Huguenot A, Ollagnier de Choudens S, Barras F, Py B (2015), PLoS Genet 11(5): e1005134. doi:10.1371/journal.pgen.1005134

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Trading Places—Switching Frataxin Function by a Single Amino Acid Substitution within the [Fe-S] Cluster Assembly Scaffold

Trading Places—Switching Frataxin Function by a Single Amino Acid Substitution within the [Fe-S] Cluster Assembly Scaffold. Dean DR, Dos Santos PC (2015) PLoS Genet 11(5): e1005192. doi:10.1371/journal.pgen.1005192

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Turning Saccharomyces cerevisiae into a Frataxin-Independent Organism

Turning Saccharomyces cerevisiae into a Frataxin-Independent Organism. Yoon H, Knight SAB, Pandey A, Pain J, Turkarslan S, Pain D, Andrew Dancis. (2015) PLoS Genet 11(5): e1005135. doi:10.1371/journal.pgen.1005135

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