Tuesday, April 14, 2020

The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich’s ataxia

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Wai Yan Yau, Mafalda Raposo, Conceição Bettencourt, Robyn Labrum, João Vasconcelos, Michael H Parkinson, Paola Giunti, Nicholas W Wood, Manu...
Monday, April 13, 2020

Frataxin-deficient cardiomyocytes present an altered thiol-redox state which targets actin and pyruvate dehydrogenase

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Rosa Purroy, Marta Medina-Carbonero, Joaquim Ros, Jordi Tamarit; Redox Biology, Volume 32, 2020, 101520, doi:10.1016/j.redox.2020.101520. ...
Sunday, April 12, 2020

Calpain-Inhibitors Protect Frataxin-Deficient Dorsal Root Ganglia Neurons from Loss of Mitochondrial Na+/Ca2+ Exchanger, NCLX, and Apoptosis

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Elena Britti, Fabien Delaspre, Jordi Tamarit & Joaquim Ros; Res (2020). doi:10.1007/s11064-020-03020-3 Calpains are calcium-dependent ...
Saturday, April 11, 2020

Calcitriol increases frataxin levels and restores altered markers in cell models of Friedreich Ataxia

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Elena Britti, Fabien Delaspre, Marta Medina-Carbonero, Arabela Sanz, Marta Llovera, Rosa Purroy, Stefka Mincheva-Tasheva, Jordi Tamarit, Joa...
Friday, April 10, 2020

Particle-mediated delivery of frataxin plasmid to a human sensory neuronal model of Friedreich's ataxia

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Ewa Czuba-Wojnilowicz, Serena Viventi, Sara E. Howden, Simon Maksour, Amy E. Hulme, Christina Cortez-Jugo, Mirella Dottori and Frank Caruso...
Thursday, April 9, 2020

Long-term voluntary running prevents the onset of symptomatic Friedreich’s ataxia in mice

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Henan Zhao, Beven M. Lewellen, Rebecca J. Wilson, Di Cui, Joshua C. Drake, Mei Zhang & Zhen Yan; Sci Rep 10, 6095 (2020). doi:10.1038/s4...
Monday, April 6, 2020

Progress towards drug discovery for Friedreich’s Ataxia: Identifying synthetic oligonucleotides that more potently activate expression of human frataxin protein

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Xiulong Shen, Johnathan Wong, Thahza P. Prakash, Frank Rigo, Yanjie Li, Marek Napierala, David R. Corey; Bioorganic & Medicinal Chemistr...
Thursday, April 2, 2020

High levels of frataxin overexpression leads to mitochondrial and cardiac toxicity in mouse models

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Brahim Belbellaa, Laurence Reutenauer, Nadia Messaddeq, Laurent Monassier, Helene Puccio; bioRxiv 2020.03.31.015255; doi:10.1101/2020.03.31....
Tuesday, March 31, 2020

Disarrangement of Endoplasmic reticulum-mitochondria communication impairs Ca2+ homeostasis in FRDA

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Laura R Rodríguez, Pablo Calap-Quintana, Tamara Lapeña-Luzón, Federico V Pallardó, Stephan Schneuwly, Juan Antonio Navarro Langa, Pilar Gonz...
Monday, March 30, 2020

Cofilin dysregulation alters actin turnover in frataxin-deficient neurons

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Diana C. Muñoz-Lasso, Belén Mollá, Pablo Calap-Quintana, José Luis García-Giménez, Federico V. Pallardo, Francesc Palau & Pilar Gonzalez...