Friedreich Ataxia Scientific News

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

Tuesday, February 21, 2023

EvolClustDB: exploring eukaryotic gene clusters with evolutionarily conserved genomic neighbourhoods, Journal of Molecular Biology

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Marcet-Houben, M., Collado-Cala, I., Fuentes-Palacios, D., Gómez, A. D., Molina, M., Garisoain-Zafra, A., … Gabaldón, T. (2023). EvolClustDB...
Sunday, February 19, 2023

Liquid chromatography-mass spectrometry analysis of frataxin proteoforms in whole blood as biomarkers of the genetic disease friedreich’s ataxia

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Rojsajjakul, T., Wu, L., Grady, C. B., Hwang, W.-T., Mesaros, C., Lynch, D. R., & Blair, I. A. (2023). Liquid chromatography-mass spectr...
Friday, February 17, 2023

Substitution to hydrophobic linker and formation of host-guest complex enhanced the effect of synthetic transcription factor made of pyrrole-imidazole polyamide

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Hatanaka J, Hashiya K, Bando T, Sugiyama H. Substitution to hydrophobic linker and formation of host-guest complex enhanced the effect of sy...
Tuesday, February 14, 2023

Removal of the GAA repeat in the heart of a Friedreich’s ataxia mouse model using CjCas9

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Pouiré Yaméogo, Catherine Gérard, Nathalie Majeau & Jacques P. Tremblay. Removal of the GAA repeat in the heart of a Friedreich’s ataxia...
Monday, February 13, 2023

Pathways to healing: plants with therapeutic potential for neurodegenerative diseases

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Tyler, S. E. B., & Tyler, L. D. K. (2023). Pathways to healing: plants with therapeutic potential for neurodegenerative diseases. IBRO N...

Bioactive fumarate improves cardiac function and expands lifespan in Friedrech’s ataxia

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Salinas, L., Figueroa, F., Montgomery, C. B., Thai, P. N., Chiamvimonvat, N., Dugar, S., Sen, S., Cortopassi, G., & Dedkova, E. N. (202...
Sunday, February 12, 2023

Genome-Wide Identification, Characterization and Expression Profiling of Potato (Solanum tuberosum) Frataxin (FH)

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Kurt F, Filiz E, Yildiz K, Akbudak MA. Genome-Wide Identification, Characterization and Expression Profiling of Potato (Solanum tuberosum) F...

Pseudodominance in Friedreich ataxia – impact of high prevalence of carriers and intrafamilial clinical variation

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Malaquias, M.J., Oliveira, J., Santos, M., Brandão, A.F., Sardoeira, A., Sequeiros, J., Barros, J. and Damásio, J. (2023), Pseudodominance i...
Tuesday, February 7, 2023

Small molecule modulators of chromatin remodeling: from neurodevelopment to neurodegeneration

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Jiang D, Li T, Guo C, Tang TS, Liu H. Small molecule modulators of chromatin remodeling: from neurodevelopment to neurodegeneration. Cell ...

Leveraging Computational Intelligence Techniques for Diagnosing Degenerative Nerve Diseases: A Comprehensive Review, Open Challenges, and Future Research Directions

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Bhachawat S, Shriram E, Srinivasan K, Hu YC. Leveraging Computational Intelligence Techniques for Diagnosing Degenerative Nerve Diseases: A ...
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