Results 31 to 40 of about 389 (134)

Posttranslational regulation of mitochondrial frataxin and identification of compounds that increase frataxin levels in Friedreich’s ataxia

Journal of Biological Chemistry, 2022
Friedreich's ataxia (FRDA) is a degenerative disease caused by a decrease in the mitochondrial protein frataxin (Fxn), which is involved in iron-sulfur cluster (ISC) synthesis. Diminutions in Fxn result in decreased ISC synthesis, increased mitochondrial iron accumulation, and impaired mitochondrial function.
Hackett, Peter T., Jia, Xuan, Li, Liangtao, Ward, Diane M.   +3 more
openaire   +2 more sources

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

Key Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review

Movement Disorders, EarlyView.
Abstract Friedreich's ataxia (FA) is a rare neurodegenerative disease with multisystemic symptoms that requires multidisciplinary care. This systematic review summarizes available pharmacological and nonpharmacological interventions, their outcomes, and alignment with patient‐centered care domains, as well as their impact on these domains.
Dorota Sarwinska, Maresa Buchholz, Audrey Iskandar, Marcus Grobe‐Einsler, Thomas Klockgether, Jennifer Faber, Bernhard Michalowsky   +6 more
wiley   +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

Directional information flow in human frataxin defines allosteric pathways connecting the hydrophobic core to the iron‐binding ridge

The FEBS Journal, EarlyView.
Human frataxin deficiency causes Friedreich's ataxia, yet how iron‐binding events are communicated across the protein is unclear. Using transfer entropy analysis of molecular dynamics simulations, we identify buried hydrophobic core leucines (LEU136, LEU140) as the source of directional signaling toward the iron‐binding acidic ridge.
Kevser Kübra Kırboğa, Ecir Uğur Küçüksille   +1 more
wiley   +1 more source

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

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   +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

Iron‐Sulfur Cluster Targeting: A Novel Perspective for Treating Alcohol‐Related Lipid Metabolic Diseases

Journal of Biochemical and Molecular Toxicology, Volume 40, Issue 9, September 2026.
Alcohol metabolism induces structural instability of iron‐sulfur clusters through ROS‐mediated oxidative damage and direct covalent modification of acetaldehyde. The iron‐sulfur cluster deficiency drives metabolic reprogramming by inactivating aconitase, accumulating succinate, and impairing tRNA thiolation, thereby promoting hepatic steatosis ...
Li Xu, Zhenyang Xu, Chenli Su, Yanqian Zhao, Linjing Qiang, Xiayong Jing, Yuxiang Sun   +6 more
wiley   +1 more source