Friedreich Ataxia Scientific News

Friedreich Ataxia and close related scientific news. Topics related to rare diseases.

Saturday, December 24, 2022

Protection of dystrophic muscle cells using Idebenone correlates with the interplay between calcium, oxidative stress and inflammation

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Amanda Harduim Valduga, Daniela Sayuri Mizobuti, Fernanda dos Santos Rapucci Moraes, Rafael Dias Mâncio, Luis Henrique Rapucci Moraes, Túlio...

Astrocytic mitochondrial frataxin—A promising target for ischemic brain injury

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Hazra, R, Novelli, EM, Hu, X.; CNS Neurosci Ther. 2022; 00: 1- 6. doi:10.1111/cns.14068  In the ischemic brain, hypoxia leads to mitochondri...
Thursday, December 22, 2022

Study traces shared and unique cellular hallmarks found in 6 neurodegenerative diseases

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ScienceDaily, 21 December 2022. Arizona State University.  In a study appearing in the current issue of Alzheimer's & Dementia: The ...

Blood RNA transcripts reveal similar and differential alterations in fundamental cellular processes in Alzheimer's disease and other neurodegenerative diseases

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Carol J. Huseby, Elaine Delvaux, Danielle L. Brokaw, Paul D. Coleman; Alzheimer's & Dementia, 2022; DOI: 10.1002/alz.12880   We repo...
Saturday, December 17, 2022

Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES)

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Pandolfo M, Reetz K, Darling A, Rodriguez de Rivera FJ, Henry PG, Joers J, Lenglet C, Adanyeguh I, Deelchand D, Mochel F, Pousset F, Pascual...
Thursday, December 15, 2022

Design and Delivery of SINEUP: A New Modular Tool to Increase Protein Translation

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Arnoldi M, Zarantonello G, Espinoza S, Gustincich S, Di Leva F, Biagioli M.; Methods Mol Biol. 2022;2434:63-87. doi: 10.1007/978-1-0716-2010...

Recurrent repeat expansions in human cancer genomes

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Erwin, G.S., Gürsoy, G., Al-Abri, R. et al.; Nature (2022). doi:10.1038/s41586-022-05515-1  Expansions of tandem DNA repeats (TRs) are known...

Researchers may have found a new path for halting cancer cell production

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Stanford Medicine; December 14, 2022;  The project began not with cancer, but with a rare, neurodegenerative disease without a cure, Friedre...
Wednesday, December 14, 2022

Kaleibe launched by Replay to target genetic brain disorders with gene therapy

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14-12-2022​. Replay, a genome writing company reprogramming biology by writing and delivering big DNA, has announced the launch of Kaleibe, ...

G-rich motifs within phosphorothioate-based antisense oligonucleotides (ASOs) drive activation of FXN expression through indirect effects

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Feng Wang, Ezequiel Calvo-Roitberg, Julia M Rembetsy-Brown, Minggang Fang, Jacquelyn Sousa, Zachary J Kartje, Pranathi Meda Krishnamurthy, J...
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