Results 71 to 80 of about 389 (134)

Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia

Biology Open, 2016
Friedreich ataxia is a neurodegenerative disease caused by a GAA triplet repeat expansion in the first intron of the frataxin gene, which results in reduced expression levels of the corresponding protein.
Dörte Poburski, Josefine Barbara Boerner, Michel Koenig, Michael Ristow, René Thierbach   +4 more
doaj   +1 more source

Mitofusin-Dependent ER Stress Triggers Glial Dysfunction and Nervous System Degeneration in a Drosophila Model of Friedreich’s Ataxia

Frontiers in Molecular Neuroscience, 2018
Friedreich’s ataxia (FRDA) is the most important recessive ataxia in the Caucasian population. It is caused by a deficit of the mitochondrial protein frataxin.
Oliver Edenharter, Stephan Schneuwly, Juan A. Navarro   +2 more
doaj   +1 more source

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

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   +1 more source

The Regulation of the Disease-Causing Gene FXN

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   +1 more source

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

PLoS ONE, 2013
Friedreich ataxia (FRDA) is an autosomal recessive disorder characterized by neurodegeneration and cardiomyopathy. The presence of a GAA trinucleotide repeat expansion in the first intron of the FXN gene results in the inhibition of gene expression and ...
Lingli Li, Lucille Voullaire, Chiranjeevi Sandi, Mark A Pook, Panos A Ioannou, Martin B Delatycki, Joseph P Sarsero   +6 more
doaj   +1 more source

Oral Presentation

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Safety, pharmacokinetics, and pharmacodynamics of nomlabofusp (CTI‐1601) in Friedreich's ataxia

Annals of Clinical and Translational Neurology
Objective Current treatments for Friedreich's ataxia, a neurodegenerative disorder characterized by decreased intramitochondrial frataxin, do not address low frataxin concentrations.
Russell Clayton, Teresa Galas, Noreen Scherer, Jennifer Farmer, Nancy Ruiz, Mohamed Hamdani, Devin Schecter, David Bettoun   +7 more
doaj   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Hypomagnetic Fields Influence the Developmental Duration, Fecundity and Temperature Stress Resistance of Drosophila melanogaster via Frataxin-Associated Traits

Biology
Frataxin is a highly conserved mitochondrial protein that plays a key role in iron homeostasis and metabolism, and its deficiency leads to oxidative stress, mitochondrial dysfunction, and neurodegeneration.
Huiming Kang, Guijun Wan, Junzheng Zhang, Weidong Pan   +3 more
doaj   +1 more source

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

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   +1 more source