Results 1 to 10 of about 389 (134)

Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells

Neurobiology of Disease, 2015
Friedreich ataxia is an inherited neurodegenerative disease that leads to progressive disability. There is currently no effective treatment and patients die prematurely.
Ivano Condò, Alessandra Rufini, Gaetano Arcuri   +2 more
exaly   +3 more sources

Protoporphyrin IX Binds to Iron(II)-Loaded and to Zinc-Loaded Human Frataxin

Life, 2023
(1) Background: Human frataxin is an iron binding protein that participates in the biogenesis of iron sulfur clusters and enhances ferrochelatase activity.
Ganeko Bernardo-Seisdedos, Andreas Schedlbauer, Tania Pereira-Ortuzar, José M. Mato, Oscar Millet   +4 more
doaj   +1 more source

Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain

Cell Death and Disease, 2023
Friedreich ataxia (FRDA) is a rare, inherited neurodegenerative disease caused by an expanded GAA repeat in the first intron of the FXN gene, leading to transcriptional silencing and reduced expression of frataxin.
Davide Doni, Federica Cavion, Marco Bortolus, Elisa Baschiera, Silvia Muccioli, Giulia Tombesi, Federica d’Ettorre, Daniele Ottaviani, Elena Marchesan, Luigi Leanza, Elisa Greggio, Elena Ziviani, Antonella Russo, Milena Bellin, Geppo Sartori, Donatella Carbonera, Leonardo Salviati, Paola Costantini   +17 more
doaj   +1 more source

Cerebellar Pathology in an Inducible Mouse Model of Friedreich Ataxia

Frontiers in Neuroscience, 2022
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by deficiency of the mitochondrial protein frataxin. Lack of frataxin causes neuronal loss in various areas of the CNS and PNS.
Elizabeth Mercado-Ayón, Nathan Warren, Sarah Halawani, Layne N. Rodden, Lucie Ngaba, Yi Na Dong, Joshua C. Chang, Carlos Fonck, Fulvio Mavilio, Fulvio Mavilio, David R. Lynch, David R. Lynch, Hong Lin   +12 more
doaj   +1 more source

PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia

Neurobiology of Disease, 2021
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is characterized by degeneration of the large sensory neurons and spinocerebellar tracts, cardiomyopathy, and increased incidence in diabetes.
Laura Rodríguez-Pascau, Elena Britti, Pablo Calap-Quintana, Yi Na Dong, Cristina Vergara, Fabien Delaspre, Marta Medina-Carbonero, Jordi Tamarit, Federico V. Pallardó, Pilar Gonzalez-Cabo, Joaquim Ros, David R. Lynch, Marc Martinell, Pilar Pizcueta   +13 more
doaj   +1 more source

E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia

Cell Reports, 2017
Friedreich ataxia (FRDA) is a severe genetic neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin. To date, there is no therapy to treat this condition.
Monica Benini, Silvia Fortuni, Ivano Condò, Giulia Alfedi, Florence Malisan, Nicola Toschi, Dario Serio, Damiano Sergio Massaro, Gaetano Arcuri, Roberto Testi, Alessandra Rufini   +10 more
doaj   +1 more source

Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia.

PLoS ONE, 2013
BackgroundFriedreich ataxia is a progressive neurodegenerative disorder caused by GAA triplet repeat expansions or point mutations in the FXN gene and, ultimately, a deficiency in the levels of functional frataxin protein.
Heather L Plasterer, Eric C Deutsch, Matthew Belmonte, Elizabeth Egan, David R Lynch, James R Rusche   +5 more
doaj   +1 more source

Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich’s Ataxia Blood

Frontiers in Neuroscience, 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-
Qingqing Wang, Qingqing Wang, Laurent Laboureur, Laurent Laboureur, Liwei Weng, Liwei Weng, Nicolas M. Eskenazi, Nicolas M. Eskenazi, Lauren A. Hauser, Lauren A. Hauser, Lauren A. Hauser, Clementina Mesaros, Clementina Mesaros, David R. Lynch, David R. Lynch, David R. Lynch, Ian A. Blair, Ian A. Blair   +17 more
doaj   +1 more source

Overexpression of human and fly frataxins in Drosophila provokes deleterious effects at biochemical, physiological and developmental levels.

PLoS ONE, 2011
BackgroundFriedreich's ataxia (FA), the most frequent form of inherited ataxias in the Caucasian population, is caused by a reduced expression of frataxin, a highly conserved protein.
Juan A Navarro, José V Llorens, Sirena Soriano, José A Botella, Stephan Schneuwly, María J Martínez-Sebastián, María D Moltó   +6 more
doaj   +1 more source

The smoothened agonist SAG reduces mitochondrial dysfunction and neurotoxicity of frataxin-deficient astrocytes

Journal of Neuroinflammation, 2022
Background Friedreich’s ataxia is a rare hereditary neurodegenerative disease caused by decreased levels of the mitochondrial protein frataxin. Similar to other neurodegenerative pathologies, previous studies suggested that astrocytes might contribute to
Andrés Vicente-Acosta, Alfredo Giménez-Cassina, Javier Díaz-Nido, Frida Loria   +3 more
doaj   +1 more source