Sunday, June 14, 2020

Defining Transcription Regulatory Elements in the Human Frataxin Gene: Implications for Gene Therapy

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Dr. Jixue Li, Dr. Yanjie Li, Dr. Jun Wang, Dr. Trevor J. Gonzalez, Dr. Aravind Asokan, Dr. Jill Napierala, and Dr. Marek Napierala; Hum Gene...
Saturday, June 13, 2020

Treatment of Dilated Cardiomyopathy in a Mouse Model of Friedreich’s Ataxia using N-acetylcysteine and Identification of Alterations in MicroRNA Expression that Could be Involved in its Pathogenesis

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S. Chiang, M.L.H. Huang, D.R. Richardson, Pharmacological Research, 2020, 104994, doi:10.1016/j.phrs.2020.104994. Deficient expression of ...
Friday, June 12, 2020

Vestibular Impact of Friedreich Ataxia in Early Onset Patients

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A Maudoux, N Teissier, M Francois, Th Van Den Abbeele, C Alberti, I Husson, S R Wiener-Vacher; Cerebellum Ataxias. 2020;7:6. Published 2020...
Thursday, June 11, 2020

A Novel Solution-Gated Graphene Transistor Biosensor for Ultrasensitive Detection of Trinucleotide Repeats

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Zhiqi Ge, Mingyu Ma, Zang Chang, Meijun Chen, Hanping He, Xiuhua Zhang and Shengfu Wang, 2020, doi:10.1039/D0AN00205D A new way to detect ...
Monday, June 8, 2020

Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia

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Naeije, G., Rai, M., Allaerts, N., Sjogard, M., De Tiège, X. and Pandolfo, M.; Ann Clin Transl Neurol. doi:10.1002/acn3.51079 Dentate nucl...
Saturday, June 6, 2020

HMTase Inhibitors as a Potential Epigenetic-Based Therapeutic Approach for Friedreich’s Ataxia

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Sherzai, Mursal; Valle, Adamo; Perry, Nicholas; Kalef-Ezra, Ester; Al-Mahdawi, Sahar; Pook, Mark; Sara Anjomani Virmouni. Frontiers. Collect...
Thursday, June 4, 2020

Functional coupling of presequence processing and degradation in human mitochondria

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Kücükköse, C., Taskin, A.A., Marada, A., Brummer, T., Dennerlein, S. and Vögtle, F.‐N. (2020), FEBS J. doi:10.1111/febs.15358 The mitochon...
Friday, May 29, 2020

Significance of NT-proBNP and High-sensitivity Troponin in Friedreich Ataxia

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Legrand, L.; Maupain, C.; Monin, M.-L.; Ewenczyk, C.; Isnard, R.; Alkouri, R.; Durr, A.; Pousset, F.; J. Clin. Med. 2020, 9, 1630. doi:10.33...
Friday, May 22, 2020

Efficacy and Safety of CSF- Delivered AVXS-401 in Mice and NonHuman Primates for the Treatment of Friedreich’s Ataxia

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Martin Fugere, Rajeev Sivasankaran, Susan McQuown, Chang Choi, Katrina Salvador, Shirley Phillips, Yin Gu, Binh Chu, Janet Do, Tsun-Kai Chan...
Thursday, May 21, 2020

PTC announced delays in its gene therapy program for Friedreich’s ataxia

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MAY 19, 2020. PTC announced delays in its gene therapy program for Friedreich’s ataxia and in the opening of a manufacturing facility in Ne...