Friday, February 26, 2021

The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients

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Davide Doni, Giovanni Rigoni, Elisa Palumbo, Elisa Baschiera, Roberta Peruzzo, Edith De Rosa, Federico Caicci, Leonardo Passerini, Daniela B...
Thursday, February 25, 2021

Retrotope Granted Rare Pediatric Disease Designation from FDA for Lead Development Candidate, RT001, in Two Life-Threatening Neurodegenerative Indications

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LOS ALTOS, Calif., Feb. 25, 2021 (GLOBE NEWSWIRE) -- Retrotope, a clinical-stage biopharmaceutical company focused on the development of nov...
Wednesday, February 24, 2021

Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington's Disease

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Zhao X, Kumari D, Miller CJ, Kim GY, Hayward B, Vitalo AG, Pinto RM, Usdin K.; J Huntingtons Dis. 2021;10(1):149-163. doi: 10.3233/JHD-20042...

Nuclear Factor Erythroid 2-Related Factor 2 Activation Might Mitigate Clinical Symptoms in Friedreich’s Ataxia: Clues of an “Out-Brain Origin” of the Disease From a Family Study

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Petrillo S, Santoro M, La Rosa P, Perna A, Gallo MG, Bertini ES, Silvestri G and Piemonte F; Front. Neurosci. 15:638810. (2021) doi:10.3389/...
Sunday, February 21, 2021

Frataxins Emerge as New Players of the Intracellular Antioxidant Machinery

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Uceda, A.B.; Donoso, J.; Frau, J.; Vilanova, B.; Adrover, M.; Antioxidants 2021, 10, 315. doi:10.3390/antiox10020315  Consequently, our work...
Saturday, February 20, 2021

Energy deficit-independent stress response in the Frataxin-depleted heart: evidence that Integrated Stress Response can predominate over mTORC1 activation

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Cesar Vasquez, Monika Patel, Aishwarya Sivaramakrishnan, Carmen Bekeova, Lauren Anderson-Pullinger, Nadan Wang, Hsin-Yao Tang, Erin L Seifer...
Friday, February 19, 2021

Friedreich’s Ataxia and Auditory Processing Disorder

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Teive, H.A., Iliadou, V.M. & Manto, M.; Cerebellum (2021). doi:10.1007/s12311-021-01238-7 The link between auditory deprivation (in this...

Auditory Phenotypic Variability in Friedreich’s Ataxia Patients

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Koohi, N., Thomas-Black, G., Giunti, P., Doris-Eva Bamiou.; Cerebellum (2021). doi:10.1007/s12311-021-01236-9 To our knowledge, this is the ...
Thursday, February 18, 2021

Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis

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Chiabrando D, Bertino F, Tolosano E.; Int J Mol Sci. 2020 May 26;21(11):3760. doi: 10.3390/ijms21113760. Mutations in genes involved in heme...
Sunday, February 14, 2021

Prognostic value of longitudinal strain and ejection fraction in Friedreich ataxia

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L. Legrand, C. Heuze, A. Diallo, M.L. Monin, C. Ewenczyk, E. Vicaut, G. Montalescot, R. Isnard, A. Durr, F. Pousset. International Journal o...