Results 21 to 30 of about 3,918 (176)

The Ferroxidase Activity of Yeast Frataxin [PDF]

Journal of Biological Chemistry, 2002
Frataxin is required for maintenance of normal mitochondrial iron levels and respiration. The mature form of yeast frataxin (mYfh1p) assembles stepwise into a multimer of 840 kDa (alpha(48)) that accumulates iron in a water-soluble form. Here, two distinct iron oxidation reactions are shown to take place during the initial assembly step (alpha ...
Sungjo, Park, Oleksandr, Gakh, Steven M, Mooney, Grazia, Isaya   +3 more
openaire   +2 more sources

Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia.

PLoS ONE, 2013
BackgroundFriedreich ataxia is a progressive neurodegenerative disorder caused by GAA triplet repeat expansions or point mutations in the FXN gene and, ultimately, a deficiency in the levels of functional frataxin protein.
Heather L Plasterer, Eric C Deutsch, Matthew Belmonte, Elizabeth Egan, David R Lynch, James R Rusche   +5 more
doaj   +1 more source

Overexpression of human and fly frataxins in Drosophila provokes deleterious effects at biochemical, physiological and developmental levels.

PLoS ONE, 2011
BackgroundFriedreich's ataxia (FA), the most frequent form of inherited ataxias in the Caucasian population, is caused by a reduced expression of frataxin, a highly conserved protein.
Juan A Navarro, José V Llorens, Sirena Soriano, José A Botella, Stephan Schneuwly, María J Martínez-Sebastián, María D Moltó   +6 more
doaj   +1 more source

Frataxin overexpressing mice

FEBS Letters, 2004
Friedreich ataxia, the most common autosomal recessive ataxia, is caused by frataxin deficiency. Reduction of frataxin has been associated with iron accumulation and sensitivity to iron induced oxidative stress. To better understand the function of frataxin, transgenic mice (tgFxn) overexpressing human frataxin were generated.
Miranda, C, Santos, M M, Ohshima, K, Tessaro, Marco, Sequeiros, Jorge, Pandolfo, Massimo   +5 more
openaire   +2 more sources

The smoothened agonist SAG reduces mitochondrial dysfunction and neurotoxicity of frataxin-deficient astrocytes

Journal of Neuroinflammation, 2022
Background Friedreich’s ataxia is a rare hereditary neurodegenerative disease caused by decreased levels of the mitochondrial protein frataxin. Similar to other neurodegenerative pathologies, previous studies suggested that astrocytes might contribute to
Andrés Vicente-Acosta, Alfredo Giménez-Cassina, Javier Díaz-Nido, Frida Loria   +3 more
doaj   +1 more source

The Structure and Function of Frataxin [PDF]

Critical Reviews in Biochemistry and Molecular Biology, 2006
Frataxin, a highly conserved protein found in prokaryotes and eukaryotes, is required for efficient regulation of cellular iron homeostasis. Humans with a frataxin deficiency have the cardio- and neurodegenerative disorder Friedreich's ataxia, commonly resulting from a GAA trinucleotide repeat expansion in the frataxin gene.
Krisztina Z, Bencze, Kalyan C, Kondapalli, Jeremy D, Cook, Stephen, McMahon, César, Millán-Pacheco, Nina, Pastor, Timothy L, Stemmler   +6 more
openaire   +2 more sources

A Potential New Therapeutic Approach for Friedreich Ataxia: Induction of Frataxin Expression With TALE Proteins

Molecular Therapy: Nucleic Acids, 2013
TALEs targeting a promoter sequence and fused with a transcription activation domain (TAD) may be used to specifically induce the expression of a gene as a potential treatment for haploinsufficiency.
Pierre Chapdelaine, Zoé Coulombe, Amina Chikh, Catherine Gérard, Jacques P Tremblay   +4 more
doaj   +1 more source

Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.

PLoS ONE, 2011
BackgroundFrataxin, the mitochondrial protein deficient in Friedreich ataxia, a rare autosomal recessive neurodegenerative disorder, is thought to be involved in multiple iron-dependent mitochondrial pathways.
Stéphane Schmucker, Alain Martelli, Florent Colin, Adeline Page, Marie Wattenhofer-Donzé, Laurence Reutenauer, Hélène Puccio   +6 more
doaj   +1 more source

Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons

Molecular Neurodegeneration, 2012
Background Friedreich’s ataxia (FRDA) is a neurodegenerative disease caused by deficiency of the mitochondrial iron chaperone frataxin (Fxn). FRDA has no cure, but disease-modifying strategies to increase frataxin are under study.
Franco Carolina, Fernández Silvia, Torres-Alemán Ignacio   +2 more
doaj   +1 more source

Src inhibitors modulate frataxin protein levels [PDF]

Human Molecular Genetics, 2015
Defective expression of frataxin is responsible for the inherited, progressive degenerative disease Friedreich's Ataxia (FRDA). There is currently no effective approved treatment for FRDA and patients die prematurely. Defective frataxin expression causes critical metabolic changes, including redox imbalance and ATP deficiency.
Cherubini, F, SERIO, DARIO, GUCCINI, ILARIA, Fortuni, S, ARCURI, GAETANO, CONDO', IVANO, RUFINI, ALESSANDRA, Moiz, S, Camerini, S, Crescenzi, M, TESTI, ROBERTO, MALISAN, FLORENCE   +11 more
openaire   +3 more sources