Saturday, June 17, 2017

Lower medulla hypoplasia in Friedreich ataxia: MR Imaging confirmation 140 years later

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Mario Mascalchi, Andrea Bianchi, Stefano Ciulli, Andrea Ginestroni, Marco Aiello, Maria Teresa Dotti, Fabrizio Salvi, Emanuele Nicolai, Andr...
Friday, June 16, 2017

DNA trinucleotide (GAA) repeats in human genome: hint for disease pathogenesis?

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Himanshu Narayan Singh, Barbara Scheiber-Mojdehkar, and Moganty R. Rajeswari, Journal of Biomolecular Structure and Dynamics Vol. 0 , Iss. j...
Wednesday, June 7, 2017

Neurodegenerative disease mechanism and potential drug identified: Offers hope for patients with Friedreich's Ataxia and related diseases

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University of California - Davis. ScienceDaily, 6 June 2017. Two new studies of neurodegenerative diseases linked to mitochondrial defects...
Sunday, June 4, 2017

Tert-butylhydroquinone protects PC12 cells against ferrous sulfate-induced oxidative and inflammatory injury via the Nrf2/ARE pathway

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Wenzhe Xu, Feng Li, Zhenkuan Xu, Bin Sun, Jingwei Cao, Yuguang Liu, Chemico-Biological Interactions, Available online 2 June 2017, ISSN 0009...
Friday, June 2, 2017

Is Reata's Friedreich's Ataxia Study a Failure?

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Rare Disease ReportData from a Phase 2 Friedreich’s ataxia (FA) study by Reata Pharmaceuticals is making its rounds on social media today. T...

Reata Pharmaceuticals, Inc. Announces Positive Data From Part One of Moxie Trial of Omaveloxolone for Friedreich’s Ataxia

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IRVING, Texas, June 01, 2017 (GLOBE NEWSWIRE) -- Reata Pharmaceuticals, Inc. (Nasdaq:RETA) (“Reata” or “the Company”), a clinical-stage biop...

Friedreich’s ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency

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Duncan E. Crombie, Claire L. Curl, Antonia JA Raaijmakers, Priyadharshini Sivakumaran, Tejal Kulkarni, Raymond CB Wong, Itsunari Minami, Mar...
Thursday, June 1, 2017

Single-step blood direct PCR: A robust and rapid method to diagnose triplet repeat disorders

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Inder Singh, Vishnu Swarup, Sunil Shakya, Vinay Goyal, Mohammed Faruq, Achal Kumar Srivastava, Single-step blood direct PCR: A robust and ra...
Wednesday, May 31, 2017

Developing gene and cell therapies for rare diseases: an opportunity for synergy between academia and industry

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F Mavilio; Gene Therapy , (25 May 2017) doi:10.1038/gt.2017.36 For the last 20 years, academic research has been the major, and often onl...
Tuesday, May 30, 2017

Blood–brain barrier peptide shuttles

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Macarena Sánchez-Navarro, Ernest Giralt, Meritxell Teixidó, Current Opinion in Chemical Biology, Volume 38, June 2017, Pages 134-140, ISSN 1...