Results 21 to 30 of about 4,355 (175)

Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models [PDF]

Disease Models & Mechanisms, 2012
In 1996, a link was identified between Friedreich’s ataxia (FRDA), the most common inherited ataxia in men, and alterations in the gene encoding frataxin (FXN).
Alain Martelli, Marek Napierala, Hélène Puccio   +2 more
doaj   +2 more sources

Neuroinflammation in Friedreich's Ataxia. [PDF]

Int J Mol Sci, 2022
Friedreich’s ataxia (FRDA) is a rare genetic disorder caused by mutations in the gene frataxin, encoding for a mitochondrial protein involved in iron handling and in the biogenesis of iron−sulphur clusters, and leading to progressive nervous system ...
Apolloni S, Milani M, D'Ambrosi N.
europepmc   +2 more sources

Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy

Annals of Noninvasive Electrocardiology, 2021
Friedreich's ataxia is a rare degenerative neuromuscular disorder, caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, with a broad clinical phenotype characterized by progressive gait and limb ataxia, dysarthria, and loss of ...
Sandra Mastroianno, Michele Germano, Angela Maggio, Raimondo Massaro, Domenico Rosario Potenza, Aldo Russo, Massimo Carella, Giuseppe Di Stolfo   +7 more
doaj   +1 more source

FDA Approves Omaveloxolone based on Successful Moxie Trial Results for Friedreich's Ataxia - Review

Journal of Education, Health and Sport, 2023
Introduction: In recent years, the medical community has witnessed a significant breakthrough in the treatment of Friedreich's Ataxia (FRDA), a rare and debilitating genetic disorder affecting the nervous system.
Krzysztof Kania, Joanna Kania, Karolina Niekurzak, Maciej Jędrak, Maciej Józefiak, Piotr Sobkiewicz   +5 more
doaj   +1 more source

Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia [PDF]

, 2013
Copyright @ 2013 Li et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are ...
Martin B Delatycki, Voullaire, L, Lucille Voullaire, Li, L, Ioannou Panos A., Sarsero, JP, Voullaire Lucille, Li Lingli, Joseph P Sarsero, Sandi, C, Pook, MA, Delatycki, MB, Chiranjeevi Sandi, Sandi Chiranjeevi, Lingli Li, Delatycki Martin B., Pook Mark A., Panos A Ioannou, Ioannou, PA, Sarsero Joseph P., Mark A Pook   +20 more
core   +1 more source

Sensitivity of Neuroimaging Indicators in Monitoring the Effects of Interferon Gamma Treatment in Friedreich’s Ataxia

Frontiers in Neuroscience, 2020
The identification of efficient markers of disease progression and response to possibly effective treatments is a key priority for slowly progressive, rare and neurodegenerative diseases, such as Friedreich’s ataxia.
Marinela Vavla, Marinela Vavla, Filippo Arrigoni, Nicola Toschi, Nicola Toschi, Denis Peruzzo, Maria Grazia D’Angelo, Sandra Gandossini, Annamaria Russo, Eleonora Diella, Stefania Tirelli, Roberto Salati, Alessandra Rufini, Alessandra Rufini, Ivano Condo, Roberto Testi, Roberto Testi, Andrea Martinuzzi   +17 more
doaj   +1 more source

Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models [PDF]

, 2014
This article has been made available through the Brunel Open Access Publishing Fund.Background: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by GAA repeat expansion in the first intron of the FXN gene, which encodes
Anjomani-Virmouni, S, Ezzatizadeh, V, Jassal Harvinder, Madhavi Sandi, Al-Mahdawi, S, Al-Mahdawi Sahar, Anjomani-Virmouni Sara, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sandi, C, Sandi Madhavi, Sandi, M, Pook, MA, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sandi Chiranjeevi, Ezzatizadeh Vahid, Harvinder Jassal, Pook Mark A., Mark A Pook, Jassal, H   +20 more
core   +1 more source

Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich Ataxia [PDF]

, 2014
Copyright © 2014 Anjomani Virmouni et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author ...
Al-Mahdawi, S, Al-Mahdawi Sahar, Anjomani Virmouni Sara, Virmouni, SA, Sandi, C, Chiranjeevi S, Pook, MA, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sandi Chiranjeevi, Chiranjeevi Sandi (283956), Sara Anjomani Virmouni, Mark A. Pook (126056), Pook Mark A., Mark A. Pook, Sara Anjomani Virmouni (627000), Mark A Pook, Sahar Al-Mahdawi (126054)   +17 more
core   +1 more source

Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus [PDF]

, 2013
© 2013 Al-Mahdawi et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use,distribution, and reproduction in any medium, provided the original author and source are ...
Pook, MA, Sahar Al-Mahdawi, Mouro Pinto, R, Chiranjeevi Sandi, Sandi Chiranjeevi, Al-Mahdawi, S, Mouro Pinto Ricardo, Al-Mahdawi Sahar, Ricardo Mouro Pinto, Pook Mark A., Mark A Pook, Sandi, C   +11 more
core   +1 more source

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. [PDF]

, 2014
Inherited deficiency in the mitochondrial protein frataxin (FXN) causes the rare disease Friedreich's ataxia (FA), for which there is no successful treatment. We identified a redox deficiency in FA cells and used this to model the disease.
Perlman, SL, Cortopassi, Gino A, Brown, B, Perlman, Susan L, McMackin, Marissa Z, Pook, MA, Wulff, H, Pook, Mark A, Jasoliya, M, Scott, Brian D, Jasoliya, Mittal, Scott, BD, Wulff, Heike, Sahdeo, S, McMackin, MZ, Sahdeo, Sunil, Cortopassi, GA, Brown, Brandon   +17 more
core   +1 more source