Monday, August 14, 2017

Mitochondrial biogenesis and neural differentiation of human iPSC is modulated by idebenone in a developmental stage-dependent manner

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J. Augustyniak, J. Lenart, M. Zychowicz, P. P. Stepien, L. Buzanska. Biogerontology (2017) 18: 665. doi:10.1007/s10522-017-9718-4 Idebenon...
Friday, August 11, 2017

Reversible axonal dystrophy by calcium modulation in frataxin-deficient sensory neurons of YG8R mice

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Belén Mollá, Diana C. Muñoz-Lasso, Fatima Riveiro1, Arantxa Bolinches-Amorós, Federico V. Pallardó, Angel Fernandez-Vilata, Maria D. Vaya,...
Thursday, August 10, 2017

Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia

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Alyssa B. Becker, BA Jiang Qian, MD, PhD Benjamin B. Gelman, MD, PhD Michele Yang, MD Peter Bauer, MD Arnulf H. Koeppen, MD; Journal of Neu...
Saturday, August 5, 2017

Mitochondrial dysfunction in the neuro-degenerative and cardio-degenerative disease, Friedreich's ataxia

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Shannon Chiang, Danuta S. Kalinowski, Patric J. Jansson, Des R. Richardson, Michael L.-H. Huang, Friedreich's ataxia, Neurochemistry Int...
Friday, August 4, 2017

Chondrial Announces FDA Orphan Drug Designation for CTI-1601, a Novel Investigational Technology for the Treatment of Friedreich's Ataxia

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BALA CYNWYD, Pa., Aug. 3, 2017 /PRNewswire/ -- Chondrial Therapeutics, Inc., an emerging biotechnology company focused on the treatment of r...
Tuesday, August 1, 2017

The importance of international collaboration for rare diseases research: a European perspective

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D Julkowska, C P Austin, C M Cutillo, D Gancberg, C Hager, J Halftermeyer, A H Jonker, L P L Lau, I Norstedt, A Rath, R Schuster, E Simelyte...
Sunday, July 30, 2017

Impact of diabetes in the Friedreich ataxia clinical outcome measures study

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Ashley McCormick, Jennifer Farmer, Susan Perlman, Martin Delatycki, George Wilmot, Katherine Matthews, Grace Yoon, Chad Hoyle, Sub H. Subram...
Saturday, July 22, 2017

Pharmacological therapeutics in Friedreich Ataxia: The present state

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Cassandra Strawser, Kimberly Schadt, Lauren Hauser, Ashley McCormick, Mckenzie Wells, Jane Larkindale, Hong Lin & David R Lynch; Expert ...
Friday, July 21, 2017

Nicotinamide mononucleotide requires SIRT3 to improve cardiac function and bioenergetics in a Friedreich’s ataxia cardiomyopathy model

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Angelical S. Martin, Dennis M. Abraham, Kathleen A. Hershberger, Dhaval P. Bhatt, Lan Mao, Huaxia Cui, Juan Liu, Xiaojing Liu, Michael J. Mu...
Wednesday, July 19, 2017

Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing

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Qian Liu, Peng Zhang, Depeng Wang, Weihong Gu and Kai Wang; Genome Medicine 20179:65 DOI: 10.1186/s13073-017-0456-7 Microsatellite expansi...