Sunday, February 26, 2023

Strategic discussion on funding and access to therapies targeting rare diseases in Spain: an expert consensus paper

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Zozaya, N., Villaseca, J., Abdalla, F., Ancochea, A., Málaga, I., Trapero-Bertran, M., … Hidalgo-Vega, A. (2023). Strategic discussion on fu...
Thursday, February 23, 2023

Ataxia de friedreich, revisión bibliográfica

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Investigación, R. S. (2023, febrero 22). Ataxia de friedreich, revisión bibliográfica. Recuperado el 23 de febrero de 2023, de ▷ RSI - Revis...
Wednesday, February 22, 2023

Insights from yeast: Transcriptional reprogramming following metformin treatment is similar to that of deferiprone in a yeast Friedreich's ataxia model

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Börklü E. Insights from yeast: Transcriptional reprogramming following metformin treatment is similar to that of deferiprone in a yeast Frie...

Frataxin-deficient human brain microvascular endothelial cells lose polymerized actin and are paracellularly permeable -implications for blood-brain barrier integrity in Friedreich's Ataxia

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Smith, F. M., & Kosman, D. J. (2023). Frataxin-deficient human brain microvascular endothelial cells lose polymerized actin and are para...
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...