Results 1 to 10 of about 3,918 (176)

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

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.
Ivano Condò, Florence Malisan, Nicola Toschi   +2 more
exaly   +3 more sources

Frataxin Loss Promotes Angiotensin II–Induced Endothelial‐to‐Mesenchymal Transition [PDF]

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background The metabolic flexibility of endothelial cells is linked to their phenotypic plasticity. Frataxin is critical in determining the iron metabolism and fate of endothelial cells.
Yuetong Guo, Xingyi Cheng, Chenglin Huang, Jing Gao, Weili Shen   +4 more
doaj   +2 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

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

Mutations in mitochondrial ferredoxin FDX2 suppress frataxin deficiency [PDF]

Nature
Gary Ruvkun, Joshua Daniel Meisel, Vamsi K Mootha   +2 more
exaly   +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