Ageing, neuroinflammation and neurodegeneration

Ageing, neuroinflammation and neurodegeneration. Roberta J Ward, David T. Dexter, Robert R. Crichton; Frontiers in Bioscience, Scholar, 7, 189-204, June 1, 2015

Access to new medicines in Europe: technical review of policy initiatives and opportunities for collaboration and research

Access to new medicines in Europe: technical review of policy initiatives and opportunities for collaboration and research. WHO Regional Office for Europe

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Oxidative Stress and the Homeodynamics of Iron Metabolism

Oxidative Stress and the Homeodynamics of Iron Metabolism. Nikolaus Bresgen and Peter M. Eck; Biomolecules 2015, 5(2), 808-847; doi:10.3390/biom5020808

Open access

Src inhibitors modulate frataxin protein levels

Src inhibitors modulate frataxin protein levels. Fabio Cherubini, Dario Serio, Ilaria Guccini, Silvia Fortuni, Gaetano Arcuri, Ivano Condò, Alessandra Rufini, Shadman Moiz, Serena Camerini, Marco Crescenzi, Roberto Testi and Florence Malisan; Hum. Mol. Genet. (2015) doi: 10.1093/hmg/ddv162, First published online: May 6, 2015

Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act

Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act. Konstantin Mechler, William K Mountford, Georg F Hoffmann and Markus Ries; Orphanet Journal of Rare Diseases 2015, 10:46 doi:10.1186/s13023-015-0262-5

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The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development. Emma Heslop, Cristina Csimma, Volker Straub, John McCall, Kanneboyina Nagaraju, Kathryn R Wagner, Didier Caizergues, Rudolf Korinthenberg, Kevin M Flanigan, Petra Kaufmann, Elizabeth McNeil, Jerry Mendell, Sharon Hesterlee, Dominic J Wells and Kate Bushby; Orphanet Journal of Rare Diseases 2015, 10:49 doi:10.1186/s13023-015-0258-1

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Principles for consistent value assessment and sustainable funding of orphan drugs in Europe

Principles for consistent value assessment and sustainable funding of orphan drugs in Europe. Laura Gutierrez, Julien Patris, Adam Hutchings and Warren Cowell; Orphanet Journal of Rare Diseases 2015, 10:53 doi:10.1186/s13023-015-0269-y

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U.S. clinics avoiding government oversight of "stem cell" treatments

Federal Regulatory Oversight of US Clinics Marketing Adipose-Derived Autologous Stem Cell Interventions: Insights From 3 New FDA Draft Guidance Documents. Leigh G. Turner, PhD, Mayo Clinic Proceedings, Volume 90, Issue 5, May 2015, Pages 567–571

Chondrial Therapeutics is pleased to announce several development milestones. Update 05.15

Chondrial Therapeutics is pleased to announce several development milestones. Update 05.15.

May 1, 2015

Chondrial Therapeutics is pleased to announce several development milestones. The company has successfully manufactured its lead commercial drug candidate for Friedreich’s Ataxia. It has also initiated preclinical validation studies and preliminary results are very encouraging. The company plans on pre-IND discussions later this year and conducting GLP Toxicology studies early next year.

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Rebekah K. Jobling , Mirna Assoum , Oleksandr Gakh , Susan Blaser , Julian A. Raiman , Cyril Mignot , Emmanuel Roze , Alexandra Dürr , Alexis Brice , Nicolas Lévy , Chitra Prasad , Tara Paton , Andrew D. Paterson , Nicole M. Roslin , Christian R. Marshall , Jean-Pierre Desvignes , Nathalie Roëckel-Trevisiol , Stephen W. Scherer , Guy A. Rouleau , André Mégarbané , Grazia Isaya , Valérie Delague , Grace Yoon; Brain. 2015 Mar 25. pii: awv057. [Epub ahead of print] DOI: http://dx.doi.org/10.1093/brain/awv057

In particular, this mutation impacts the maturation process of frataxin, the protein which is depleted in Friedreich ataxia.