Mitochondrial iron homeostasis and its dysfunctions in neurodegenerative disorders

Mitochondrial iron homeostasis and its dysfunctions in neurodegenerative disorders. Natalia P. Mena, Pamela J. Urrutia, Fernanda Lourido, Carlos M. Carrasco, Marco T. Núñez, Mitochondrion, Volume 21, March 2015, Pages 92-105, ISSN 1567-7249, http://dx.doi.org/10.1016/j.mito.2015.02.001.

Conference: 2nd Rare Disease Collaboration

Conference: 2nd Rare Disease Collaboration: 15th July 2015 at 08:00 - 16th July 2015 at 17:00 (GMT-04:00) Atlantic Time (Canada) Nature Events Directory.

Speakers: Gail Adinamis, Globalcare Clinical Trials, LTD, Rino Aldrighetti, Pulmonary Hypertension Association, Ronald Bartek, Friedreich's Ataxia Research Alliance (FARA), Diane Berry, Sarepta Therapeutics,

The role of mitochondria and the cytosolic iron-sulfur protein assembly machinery in the maturation of cytosolic and nuclear iron-sulfur proteins

The role of mitochondria and the cytosolic iron-sulfur protein assembly machinery in the maturation of cytosolic and nuclear iron-sulfur proteins. Roland Lill, Rafal Dutkiewicz, Sven Freibert, Torsten Heidenreich, Judita Mascarenhas, Daili Netz, Victoria D. Paul, Antonio J. Pierik, Nadine Richter, Martin Stümpfig, Vasundara Srinivasan, Oliver Stehling, Ulrich Mühlenhoff, European Journal of Cell Biology, Available online 31 May 2015, ISSN 0171-9335, http://dx.doi.org/10.1016/j.ejcb.2015.05.002.

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