Results 51 to 60 of about 5,449 (210)

DNA methylation in Friedreich ataxia silences expression of frataxin isoform E

Scientific Reports, 2022
Epigenetic silencing in Friedreich ataxia (FRDA), induced by an expanded GAA triplet-repeat in intron 1 of the FXN gene, results in deficiency of the mitochondrial protein, frataxin.
Layne N. Rodden, Kaitlyn M. Gilliam, Christina Lam, Teerapat Rojsajjakul, Clementina Mesaros, Chiara Dionisi, Mark Pook, Massimo Pandolfo, David R. Lynch, Ian A. Blair, Sanjay I. Bidichandani   +10 more
doaj   +1 more source

Mesenchymal stem cells restore frataxin expression and increase hydrogen peroxide scavenging enzymes in Friedreich ataxia fibroblasts.

PLoS ONE, 2011
Dramatic advances in recent decades in understanding the genetics of Friedreich ataxia (FRDA)--a GAA triplet expansion causing greatly reduced expression of the mitochondrial protein frataxin--have thus far yielded no therapeutic dividend, since there ...
Kevin Kemp, Elizabeth Mallam, Kelly Hares, Jonathan Witherick, Neil Scolding, Alastair Wilkins   +5 more
doaj   +1 more source

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

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   +1 more source

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

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   +1 more source

Metal Ion Binding in Wild-Type and Mutated Frataxin: A Stability Study

Frontiers in Molecular Biosciences, 2022
This work studies the stability of wild-type frataxin and some of its variants found in cancer tissues upon Co2+ binding. Although the physiologically involved metal ion in the frataxin enzymatic activity is Fe2+, as it is customarily done, Co2+ is most ...
S. Morante, S. Morante, S. Botticelli, S. Botticelli, R. Chiaraluce, V. Consalvi, G. La Penna, G. La Penna, L. Novak, A. Pasquo, M. Petrosino, O. Proux, G. Rossi, G. Rossi, G. Rossi, G. Salina, F. Stellato, F. Stellato   +17 more
doaj   +1 more source

Transcript correlation analysis for the identification of novel plant genes involved in iron metabolism and beyond: what next?

Plant Biology, EarlyView.
Transcript correlation analysis allowed the identification of several key nodes in the complex regulatory network of plant iron metabolism. Abstract Arabidopsis thaliana was the first plant genome to be fully sequenced, almost a quarter of a century ago, thanks to The Arabidopsis Genome Initiative, with contributions from scientists worldwide.
I. Murgia, P. Morandini
wiley   +1 more source

Partial conservation of functions between eukaryotic frataxin and theEscherichia colifrataxin homolog CyaY [PDF]

FEMS Yeast Research, 2007
Frataxin is a mitochondrial protein structurally conserved from bacteria to humans. Eukaryotic frataxins are known to be involved in the maintenance of mitochondrial iron balance via roles in iron delivery and iron detoxification. The prokaryotic frataxin homolog, CyaY, has been shown to bind and donate iron for the assembly of [2Fe-2S] clusters in ...
Tibor, Bedekovics, Gabriella B, Gajdos, Gyula, Kispal, Grazia, Isaya   +3 more
openaire   +2 more sources

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

, 2006
Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by an unstable GAA repeat expansion mutation within intron 1 of the FXN gene. However, the origins of the GAA repeat expansion, its unstable dynamics within different cells and tissues, and ...
Pinto, Ricardo Mouro, Blake, Julian, Al-Mahdawi, S, Lowrie, Margaret B., Hughes, Sian, Pook, Mark A., Webster, Zoe, Varshney, Dhaval, Pook, MA, Lawrence, Lorraine, King, Rosalind, Cooper, J. Mark, Al-Mahdawi, Sahar, Mouro Pinto, R   +13 more
core   +1 more source

HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.

PLoS ONE, 2008
BackgroundFriedreich ataxia, an autosomal recessive neurodegenerative and cardiac disease, is caused by abnormally low levels of frataxin, an essential mitochondrial protein.
Myriam Rai, Elisabetta Soragni, Kai Jenssen, Ryan Burnett, David Herman, Giovanni Coppola, Daniel H Geschwind, Joel M Gottesfeld, Massimo Pandolfo   +8 more
doaj   +1 more source

Exploring and Targeting the Connection of Iron and Copper Homeostasis to Neurodegenerative Diseases

MedComm, Volume 7, Issue 6, June 2026.
Iron and copper dyshomeostasis, along with their interactions with key intrinsically disordered proteins (e.g., Aβ, tau, α‐synuclein) have a strong implication in the onset and progression of neurodegenerative diseases, including Alzheimer's disease (AD), Parkinson's disease (PD), Prion diseases (PrDs), Huntington's disease (HD), Wilson's disease (WD),
Xin Liu, Lin Jia, Kerong Wu, Mo Chen, Jichao Sun, Chuanbin Yang, Chengchao Xu, Jie Sun, Jigang Wang, Lingyun Dai   +9 more
wiley   +1 more source