Results 21 to 30 of about 5,673 (157)

Genotype and phenotype characterisation of Friedreich ataxia mouse models and cells [PDF]

, 2013
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel UniversityFriedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder, caused by a GAA repeat expansion mutation within intron 1 of the FXN gene ...
Anjomani Virmouni, Sara
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Exploring frataxin function [PDF]

IUBMB Life, 2011
AbstractFrataxin is a nuclear‐encoded mitochondrial protein highly conserved in prokaryotes and eukaryotes. Its deficiency was initially described as the phenotype of Friedreich's ataxia, an autosomal recessive disease in humans. Although several functions have been described for frataxin, that is, involvement in Fe‐S cluster and heme synthesis, energy
Busi, María Victoria, Gomez Casati, Diego Fabian   +1 more
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Plant Frataxin in Metal Metabolism [PDF]

Frontiers in Plant Science, 2018
La frataxina es una proteína altamente conservada de procariotas a eucariotas. Se han postulado varias funciones relacionadas con el metabolismo del hierro para esta proteína, incluyendo el grupo Fe-S y la síntesis de hemo, la respuesta al daño oxidativo y la fosforilación oxidativa.
Diego F. Gomez‐Casati, María V. Busi, María A. Pagani   +2 more
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Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model [PDF]

, 2012
Copyright © The Author 2012. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits ...
B. Tomassini, I. Condo, Ezzatizadeh, V, Condò, I, TOMASSINI, BARBARA, Sandi, C, Testi, R, Al Mahdawi, S, Arcuri, G, Pook, M, C. Sandi, Malisan, F, R. Testi, S. Fortuni, M. Pook, V. Ezzatizadeh, Tomassini, B, MALISAN, FLORENCE, Fortuni, S, Al-Mahdawi, S, S. Al Mahdawi, TESTI, ROBERTO, G. Arcuri, CONDO', IVANO, Casali, C, F. Malisan, CASALI, Carlo   +26 more
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Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia [PDF]

, 2014
© The Author 2014. Published by Oxford University Press This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution,
Pedersen, TL, Cortopassi, G, Newman, John W, Shen, Yan, Pedersen, Theresa L, Pook, Mark, Hayashi, G, Newman, JW, Pook, M, Hayashi, Genki, Cortopassi, Gino, Shen, Y   +11 more
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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
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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
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Novel frataxin isoforms may contribute to the pathological mechanism of friedreich ataxia [PDF]

, 2012
This is an open-access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose.
Xiaoman Dai (126050), Ran Mo (126053), Tracey A. Rouault (126059), Al-Mahdawi Sahar, Yun Cao, Kuanyu Li, Di Zhou, Al-Mahdawi, Sahar, Leimkühler, Silke (Prof. Dr.), Tracey A Rouault, Mark A Pook, Dai, Xiaoman, Haiyan Xia, Zhou, D, Di Zhou (126052), Zhou Di, Pook, Mark A., Mo, R, Mo, Ran, Rouault, Tracey A., Cao Yun, Mo Ran, Sahar Al-Mahdawi, Haiyan Xia (126049), Pook Mark A., Silke Leimkühler (126058), Marelja Zvonimir, Cao, Yun, Xiaoman Dai, Zvonimir Marelja (126051), Rouault Tracey A., Li, K, Leimkühler, S, Cao, Y, Kuanyu Li (126061), Silke Leimkühler, Pook, MA, Li, Kuanyu, Xia, Haiyan, Mark A. Pook (126056), Zvonimir Marelja, Sahar Al-Mahdawi (126054), Dai Xiaoman, Marelja, Z, Al-Mahdawi, S, Dai, X, Xia Haiyan, Zhou, Di, Ran Mo, Marelja, Zvonimir, Rouault, TA, Xia, H, Yun Cao (111731), Li Kuanyu, Leimkühler Silke   +54 more
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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
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GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology [PDF]

, 2006
Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by an unstable GAA repeat expansion mutation within intron 1 of the FXN gene. However, the origins of the GAA repeat expansion, its unstable dynamics within different cells and tissues, and ...
Pinto, Ricardo Mouro, Blake, Julian, Al-Mahdawi, S, Lowrie, Margaret B., Hughes, Sian, Pook, Mark A., Webster, Zoe, Varshney, Dhaval, Pook, MA, Lawrence, Lorraine, King, Rosalind, Cooper, J. Mark, Al-Mahdawi, Sahar, Mouro Pinto, R   +13 more
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