Tuesday, June 14, 2022

Metabolomics analysis reveals dysregulation in one carbon metabolism in Friedreich Ataxia

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Thomas M. O'Connell, David L. Logsdon, R. Mark Payne; Molecular Genetics and Metabolism, 2022, ISSN 1096-7192, doi:10.1016/j.ymgme.2022....

W131 Detection of compound heterozygotes for GAA expansion & a frataxin gene (FXN) point mutation in patients with friedreich’s ataxia

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A. Pagdhune, A. Dalal, M. M; Clinica Chimica Acta, Volume 530, Supplement 1, 2022, Page S341, ISSN 0009-8981, doi:10.1016/j.cca.2022.04.886....

Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich’s Ataxia YG8sR Model: A Multilinear Algebra Approach

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Muñoz-Lasso DC, Mollá B, Sáenz-Gamboa JJ, Insuasty E, de la Iglesia-Vaya M, Pook MA, Pallardó FV, Palau F and Gonzalez-Cabo P (2022). Front....
Tuesday, June 7, 2022

AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives

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Hanaford, A.R., Cho, YJ. & Nakai, H.; Orphanet J Rare Dis 17, 217 (2022). doi:10.1186/s13023-022-02324-7  This review summarizes the pre...
Saturday, June 4, 2022

Neuroinflammation in Friedreich’s Ataxia

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Apolloni, S.; Milani, M.; D’Ambrosi, N.; Int. J. Mol. Sci. 2022, 23, 6297. doi:10.3390/ijms23116297 In this review article, we discuss evid...
Thursday, June 2, 2022

A clinical and epidemiological prevalence study on Friedreich's Ataxia in Latium, Italy

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Romano S, Bacigalupo I, Marcotulli C, Cioffi E, Bertini ES, Vasco G, Perna A, Petrucci A, Massa R, Frezza E, Romano C, Salvetti M, Ristori G...
Wednesday, June 1, 2022

Metal Ion Binding in Wild-Type and Mutated Frataxin: A Stability Study

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Morante, S.; Botticelli, S.; Chiaraluce, R.; Consalvi, V.; La Penna, G.; Novak, L.; et al. (2022); Frontiers. Collection. doi:10.3389/fmolb....
Saturday, May 28, 2022

Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia

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Layne N. Rodden, Christian Rummey, Yi Na Dong, David R. Lynch; Neurol Genet Jun 2022, 8 (3) e683; DOI: 10.1212/NXG.0000000000000683 In the v...

Anaesthesia for a patient with Friedreich’s ataxia undergoing emergency tibia interlocking nail insertion

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Ahmed Abd Elmohsen Bedewy (2022), Egyptian Journal of Anaesthesia, 38:1, 324-325, DOI: 10.1080/11101849.2022.2082789 Friedreich’s ataxia has...
Friday, May 27, 2022

Lexeo to start phase I/II clinical trial for patients with Friedreich’s ataxia cardiomyopathy

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May 26, 2022 -- Gene therapy company Lexeo Therapeutics in 2022 plans to launch a phase I/II clinical trial of its adeno-associated virus-ba...