Results 21 to 30 of about 10,061 (229)

Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon? [PDF]

Pharmaceuticals, 2018
Friedreich ataxia is a neurodegenerative disease with an autosomal recessive inheritance. In most patients, the disease is caused by the presence of trinucleotide GAA expansions in the first intron of the frataxin gene.
David Alsina, Rosa Purroy, Joaquim Ros, Jordi Tamarit   +3 more
doaj   +4 more sources

Therapeutic combination of L-ascorbic acid, N-acetylcysteine, and dimethyl fumarate in Friedreich’s ataxia: insights from in vitro models [PDF]

Redox Report
Friedreich’s Ataxia (FRDA) is a rare neurological disorder caused by an abnormal expansion of Guanine-Adenine-Adenine (GAA) repeat in intron 1 of the FXN gene, which encodes frataxin, leading to reduced expression of frataxin, a mitochondrial protein ...
Fred Jonathan Edzeamey, Zenouska Ramchunder, Adamo Valle Gómez, Haobo Ge, Carlo Marya Thomas Marobbio, Charareh Pourzand, Sara Anjomani Virmouni   +6 more
doaj   +2 more sources

Deciphering the ferroptosis pathways in dorsal root ganglia of Friedreich ataxia models. The role of LKB1/AMPK, KEAP1, and GSK3β in the impairment of the NRF2 response [PDF]

Redox Biology
Friedreich ataxia (FA) is a rare neurodegenerative disease caused by decreased levels of the mitochondrial protein frataxin. Frataxin has been related in iron homeostasis, energy metabolism, and oxidative stress. Ferroptosis has recently been shown to be
Arabela Sanz-Alcázar, Marta Portillo-Carrasquer, Fabien Delaspre, Maria Pazos-Gil, Jordi Tamarit, Joaquim Ros, Elisa Cabiscol   +6 more
doaj   +2 more sources

The Regulation of the Disease-Causing Gene FXN [PDF]

Cells
Friedreich’s ataxia (FRDA) is a progressive neurodegenerative disease caused in almost all patients by expanded guanine–adenine–adenine (GAA) trinucleotide repeats within intron 1 of the FXN gene.
Yi Na Dong, Elizabeth Mercado-Ayón, Jennifer Coulman, Liam Flatley, Lucie Vanessa Ngaba, Miniat W. Adeshina, David R. Lynch   +6 more
doaj   +2 more sources

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 ...
A Wong, AH Koeppen, AH Koeppen, Annalisa Pastore, B Tomassini, C Sandi, C Sandi, CH Miller, Chiranjeevi Sandi, CJ Miranda, D Waldvogel, F Foury, H Puccio, HA Young, J Gerber, JH Willis, JL Bradley, JM Gottesfeld, JP Sarsero, M Cnop, M Pandolfo, M Pandolfo, M Ristow, MA Pook, Mark A. Pook, RM Clark, S Al-Mahdawi, S Al-Mahdawi, S Al-Mahdawi, Sahar Al-Mahdawi, Sara Anjomani Virmouni, V Campuzano, V Campuzano, Y Shan   +33 more
core   +23 more sources

Frataxin knockdown in human astrocytes triggers cell death and the release of factors that cause neuronal toxicity [PDF]

Neurobiology of Disease, 2015
Friedreich's ataxia (FA) is a recessive, predominantly neurodegenerative disorder caused in most cases by mutations in the first intron of the frataxin (FXN) gene.
Frida Loría, Javier Díaz-Nido
doaj   +2 more sources

SIRT3 Regulates Clearance of Apoptotic Cardiomyocytes by Deacetylating Frataxin

Circulation Research, 2023
BACKGROUND: Efferocytosis is an activity of macrophages that is pivotal for the resolution of inflammation in hypertension. The precise mechanism by which macrophages coordinate efferocytosis and internalize apoptotic cardiomyocytes remains unknown.
Jing Gao, Chenglin Huang, L. Kong, Wugang Zhou, Mengwei Sun, Tong Wei, W. Shen   +6 more
semanticscholar   +1 more source

Redox sensitive human mitochondrial aconitase and its interaction with frataxin: In vitro and in silico studies confirm that it takes two to tango.

Free Radical Biology & Medicine, 2023
Mitochondrial aconitase (ACO2) has been postulated as a redox sensor in the tricarboxylic acid cycle. Its high sensitivity towards reactive oxygen and nitrogen species is due to its particularly labile [4Fe-4S]2+ prosthetic group which yields an inactive
S. Mansilla, Verónica Tórtora, Florencia Pignataro, S. Sastre, I. Castro, M. L. Chiribao, C. Robello, A. Zeida, Javier Santos, L. Castro   +9 more
semanticscholar   +1 more source

Liquid Chromatography–Mass Spectrometry Analysis of Frataxin Proteoforms in Whole Blood as Biomarkers of the Genetic Disease Friedreich’s Ataxia

Analytical Chemistry, 2023
Friedreich’s ataxia (FRDA) is caused primarily by expanded GAA repeats in intron 1 of both alleles of the FXN gene, which causes transcriptional silencing and reduced expression of frataxin mRNA and protein.
Teerapat Rojsajjakul, Linfeng Wu, Connor B Grady, Wei-Ting Hwang, C. Mesaros, D. Lynch, Ian A. Blair   +6 more
semanticscholar   +1 more source

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
openaire   +3 more sources