Saturday, April 16, 2016

Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia

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Hayashi G, Cortopassi G. PLoS ONE 11(4): e0153574. doi:10.1371/journal.pone.0153574 OPEN ACCESS This work demonstrates that the mRNA abu...
Friday, April 15, 2016

Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency

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Julianna E. Shinnick, Kimberly Schadt, Cassandra Strawser, Nicholas Wilcox, Susan L. Perlman, George R. Wilmot, Christopher M. Gomez, Kather...
Thursday, April 14, 2016

Researchers from Mount Sinai and Sage Bionetworks Report Analysis of Nearly 600,000 Genomes for Resilience Project

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Icahn School of Medicine at Mount Sinai, New York, NY – April 11, 2016 /Press Release/ –– As part of a global collaboration, scientists...
Wednesday, April 13, 2016

Interview with Dr. Javier Diaz-Nido talking about Friedreich's Ataxia (SPA)

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Spanish   From minute 3.40 until minute 15 http://mvod.lvlt.rtve.es/resources/TE_SENTREP/mp3/7/0/1460534569907.mp3  http...

Italian program for independent research on drugs: 10 year follow-up of funded studies in the area of rare diseases

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Giuseppe Traversa, Lucia Masiero, Luciano Sagliocca and Francesco Trotta. Orphanet Journal of Rare Diseases 2016 11:36 DOI: 10.1186/s13023-0...
Tuesday, April 12, 2016

Statistical Enrichment of Epigenetic States Around Triplet Repeats that Can Undergo Expansions

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Alexandra Essebier, Patricia Vera Wolf, Minh Duc Cao, Bernard J. Carroll, Sureshkumar Balasubramanian and Mikael Bodén, Front. Neurosci., 08...
Monday, April 11, 2016

Roles of Fe–S proteins: from cofactor synthesis to iron homeostasis to protein synthesis

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Debkumar Pain, Andrew Dancis, Current Opinion in Genetics & Development, Volume 38, June 2016, Pages 45-51, ISSN 0959-437X, doi:10.1016/...
Sunday, April 10, 2016

The Structure of the Complex Between Yeast Frataxin and Ferrochelatase: Characterization and pre-Steady State Reaction of Ferrous Iron Delivery and Heme Synthesis

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Christopher G. Soderberg, Mallory E. Gillam, Eva-Christina Ahlgren, Gregory A. Hunter, Oleksandr Gakh, Grazia Isaya, Gloria C. Ferreira and ...
Saturday, April 9, 2016

Effects of Genetic Severity on Glucose Homeostasis in Friedreich Ataxia

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Charles J. Isaacs BA, Karlla W. Brigatti MS, Olena Kucheruk RN MPH, Sarah Ratcliffe PhD, Tom Sciascia MD, Shana E. McCormack MD, Steven M. W...
Friday, April 8, 2016

Accessing the accelerated approval pathway for rare disease therapeutics

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Emil D Kakkis, Sara Kowalcyk & Max G Bronstein, Nature Biotechnology 34, 380–383 (2016) doi:10.1038/nbt.3530 Improvements must be made...