Results 41 to 50 of about 5,449 (210)

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

Redox Biology, 2020
Friedreich ataxia (FA) is a cardioneurodegenerative disease caused by deficient frataxin expression. This mitochondrial protein has been related to iron homeostasis, energy metabolism, and oxidative stress.
Rosa Purroy, Marta Medina-Carbonero, Joaquim Ros, Jordi Tamarit   +3 more
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In vivo overexpression of frataxin causes toxicity mediated by iron-sulfur cluster deficiency

Molecular Therapy: Methods & Clinical Development, 2022
Friedreich's ataxia is a rare disorder resulting from deficiency of frataxin, a mitochondrial protein implicated in the synthesis of iron-sulfur clusters.
Claudia Huichalaf, Tyler L. Perfitt, Anna Kuperman, Renea Gooch, Ramesh C. Kovi, Karrie A. Brenneman, Xian Chen, Dinesh Hirenallur-Shanthappa, Tiffany Ma, Basel T. Assaf, Ingrid Pardo, Tania Franks, Laura Monarski, Ting-Wen Cheng, Kevin Le, Chunyan Su, Suryanarayan Somanathan, Laurence O. Whiteley, Christine Bulawa, Marko J. Pregel, Alain Martelli   +20 more
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Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapy [PDF]

, 2013
Copyright © 2013 Chiranjeevi Sandi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly ...
Pook, MA, Al-Mahdawi, S, Sandi, C
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Data_Sheet_1_Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich’s Ataxia Blood.pdf

, 2022
Friedreich’s ataxia (FRDA) is an autosomal recessive disease caused by an intronic guanine-adenine-adenine (GAA) triplet expansion in the frataxin (FXN) gene, which leads to reduced expression of full-length frataxin (1–210) also known as isoform 1. Full-
Lauren A. Hauser (4759242), Qingqing Wang (141110), Nicolas M. Eskenazi (12471681), Liwei Weng (1353144), David R. Lynch (11753438), Clementina Mesaros (399545), Laurent Laboureur (4445332), Ian A. Blair (265026)   +7 more
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A peptide derived from TID1S rescues frataxin deficiency and mitochondrial defects in FRDA cellular models

Frontiers in Pharmacology
Friedreich’s ataxia (FRDA), the most common recessive inherited ataxia, results from homozygous guanine–adenine–adenine (GAA) repeat expansions in intron 1 of the FXN gene, which leads to the deficiency of frataxin, a mitochondrial protein essential for ...
Yi Na Dong, Yi Na Dong, Lucie Vanessa Ngaba, Jacob An, Miniat W. Adeshina, Nathan Warren, Johnathan Wong, David R. Lynch, David R. Lynch   +8 more
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Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich’s ataxia

Disease Models & Mechanisms, 2012
SUMMARY Friedreich’s ataxia (FRDA) is the most common hereditary ataxia in the caucasian population and is characterized by a mixed spinocerebellar and sensory ataxia, hypertrophic cardiomyopathy and increased incidence of diabetes.
Alain Martelli, Lisa S. Friedman, Laurence Reutenauer, Nadia Messaddeq, Susan L. Perlman, David R. Lynch, Kathrin Fedosov, Jörg B. Schulz, Massimo Pandolfo, Hélène Puccio   +9 more
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Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC‐neurons and cardiomyocytes

Molecular Genetics & Genomic Medicine, 2023
Background Friedreich's ataxia (FRDA) is an autosomal recessive disease, whereby homozygous inheritance of an expanded GAA trinucleotide repeat expansion in the first intron of the FXN gene leads to transcriptional repression of the encoded protein ...
Mariana B. Angulo, Alexander Bertalovitz, Mariana A. Argenziano, Jiajia Yang, Aarti Patel, Theresa Zesiewicz, Thomas V. McDonald   +6 more
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Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism

Frontiers in Cellular Neuroscience, 2014
Friedreich ataxia is considered a neurodegenerative disorder involving both the peripheral and central nervous systems. Dorsal root ganglia (DRG) are the major target tissue structures.
Arantxa eBolinches-Amorós, Arantxa eBolinches-Amorós, Arantxa eBolinches-Amorós, Belén eMollá, Belén eMollá, Belén eMollá, David ePla-Martín, David ePla-Martín, David ePla-Martín, Francesc ePalau, Francesc ePalau, Francesc ePalau, Francesc ePalau, Pilar eGonzalez-Cabo, Pilar eGonzalez-Cabo, Pilar eGonzalez-Cabo   +15 more
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Novel frataxin isoforms may contribute to the pathological mechanism of friedreich ataxia

, 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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The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.

PLoS ONE, 2009
BackgroundFriedreich ataxia (FRDA), the most common form of recessive ataxia, is due to reduced levels of frataxin, a highly conserved mitochondrial iron-chaperone involved in iron-sulfur cluster (ISC) biogenesis. Most patients are homozygous for a (GAA)(
Nadège Calmels, Stéphane Schmucker, Marie Wattenhofer-Donzé, Alain Martelli, Nadège Vaucamps, Laurence Reutenauer, Nadia Messaddeq, Cécile Bouton, Michel Koenig, Hélène Puccio   +9 more
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