Results 1 to 10 of about 3,917 (113)

Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxia [PDF]

BMJ Neurology Open
Background Novel therapeutics for Friedreich ataxia employ diverse strategies to increase frataxin protein levels, and a better understanding of the relation to clinical outcomes could strengthen their use as pharmacodynamic markers, and potentially as ...
Shana McCormack, Grace Yoon, Richard S Finkel, Richard H Roxburgh, Louise A Corben, David R Lynch, Kathy Mathews, Christopher M Gomez, S H Subramony, George Wilmot, Martin Bruce Delatycki, Clementina Mesaros, Christian Rummey, Ian A Blair, Teerapat Rojsajjakul, Yina Dong, Theresa Zesiewicz, Joseph C Hoyle, Lauren Seeberger, Antoine Duquette, Susan Perlman   +20 more
doaj   +2 more sources

Hypomagnetic Field Exposure Alters Iron–Sulfur Homeostasis and Oxidative Balance in a Frataxin-Deficient Insect System [PDF]

Insects
Frataxin is a conserved mitochondrial protein essential for cellular iron–sulfur (Fe–S) cluster biogenesis and oxidative balance, with its deficiency causing Friedreich’s ataxia in humans.
Hui-Ming Kang, Bing Li, Shuai Yan, Li-Li Zhang, Gui-Jun Wan, Jun-Zheng Zhang, Wei-Dong Pan   +6 more
doaj   +2 more sources

Pathological frataxin deficiency in mice causes tissue-specific alterations in iron homeostasis [PDF]

iScience
Summary: Friedreich ataxia is caused by partial frataxin deficiency due to genetic mutations. It is well established that frataxin knockout affects iron homeostasis, but the alterations caused by pathological (partial) frataxin deficiency are poorly ...
Maria Pazos-Gil, Marta Medina-Carbonero, Arabela Sanz-Alcázar, Marta Portillo-Carrasquer, Luiza Oliveira-Jorge, Gonzalo Hernández, Mayka Sánchez, Fabien Delaspre, Elisa Cabiscol, Joaquim Ros, Jordi Tamarit   +10 more
doaj   +2 more sources

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.
Silvia Fortuni, Ivano Condò, Florence Malisan   +2 more
exaly   +3 more sources

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.
Alessandra Rufini, Francesca Cavallo, Ivano Condò   +2 more
exaly   +3 more sources

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

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   +2 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

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