Results 11 to 20 of about 5,449 (210)

In vivo maturation of human frataxin [PDF]

Human Molecular Genetics, 2007
The defective expression of frataxin causes the hereditary neurodegenerative disorder Friedreich's ataxia (FRDA). Human frataxin is synthesized as a 210 amino acid precursor protein, which needs proteolytic processing into mitochondria to be converted into the functional mature form.
CONDO', IVANO, Ventura, N, MALISAN, FLORENCE, RUFINI, ALESSANDRA, Tomassini, B, TESTI, ROBERTO   +5 more
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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
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Frataxin Structure and Function

, 2019
Mammalian frataxin is a small mitochondrial protein involved in iron sulfur cluster assembly. Frataxin deficiency causes the neurodegenerative disease Friedreich's Ataxia. Valuable knowledge has been gained on the structural dynamics of frataxin, metal-ion-protein interactions, as well as on the effect of mutations on protein conformation, stability ...
Castro I. H., Pignataro M. F., Sewell K. E., Espeche L. D., Herrera M. G., Noguera M. E., Dain L., Nadra A. D., Aran M., Smal C., Gallo M., Santos J.   +11 more
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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   +2 more sources

Frataxin and Mitochondrial FeS Cluster Biogenesis [PDF]

Journal of Biological Chemistry, 2010
Friedreich ataxia is an inherited neurodegenerative disease caused by frataxin deficiency. Frataxin is a conserved mitochondrial protein that plays a role in FeS cluster assembly in mitochondria. FeS clusters are modular cofactors that perform essential functions throughout the cell.
Stemmler, Timothy L, Lesuisse, Emmanuel, Pain, Debkumar, Dancis, Andrew   +3 more
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Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich’s Ataxia Blood

Frontiers in Neuroscience, 2022
Friedreich’s ataxia (FRDA) is an autosomal recessive disease caused by an intronic guanine-adenine-adenine (GAA) triplet expansion in the frataxin (FXN) gene, which leads to reduced expression of full-length frataxin (1–210) also known as isoform 1. Full-
Qingqing Wang, Qingqing Wang, Laurent Laboureur, Laurent Laboureur, Liwei Weng, Liwei Weng, Nicolas M. Eskenazi, Nicolas M. Eskenazi, Lauren A. Hauser, Lauren A. Hauser, Lauren A. Hauser, Clementina Mesaros, Clementina Mesaros, David R. Lynch, David R. Lynch, David R. Lynch, Ian A. Blair, Ian A. Blair   +17 more
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A Pool of Extramitochondrial Frataxin That Promotes Cell Survival [PDF]

Journal of Biological Chemistry, 2006
Frataxin is a mitochondrial protein involved in iron metabolism. Defective expression of frataxin causes Friedreich ataxia (FA), an inherited degenerative syndrome characterized by ataxia, cardiomyopathy, and high incidence of diabetes. Here we report that frataxin-deficient cells are more prone to undergo stress-induced mitochondrial damage and ...
CONDO', IVANO, Ventura, N, MALISAN, FLORENCE, Tomassini, B, TESTI, ROBERTO   +4 more
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Chemical shift assignment of a thermophile frataxin [PDF]

Biomolecular NMR Assignments, 2017
Frataxin is the protein responsible for the genetically-inherited neurodegenerative disease Friedreich's ataxia caused by partial silencing of the protein and loss of function. Although the frataxin function is not yet entirely clear, it has been associated to the machine that builds iron-sulfur clusters, essential prosthetic groups involved in several
Rasheed M, Yan R, Kelly G, Pastore A
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Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia. [PDF]

PLoS ONE, 2013
Friedreich ataxia (FRDA) is an autosomal recessive disorder characterized by neurodegeneration and cardiomyopathy. The presence of a GAA trinucleotide repeat expansion in the first intron of the FXN gene results in the inhibition of gene expression and ...
Lingli Li, Lucille Voullaire, Chiranjeevi Sandi, Mark A Pook, Panos A Ioannou, Martin B Delatycki, Joseph P Sarsero   +6 more
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Frataxin deficiency and mitochondrial dysfunction

Mitochondrion, 2002
Friedreich ataxia (FA) is an inherited recessive disorder characterized by progressive neurological disability and heart abnormalities. The Friedreich ataxia gene (FRDA) encodes a small mitochondrial protein, frataxin, which is produced in insufficient amounts in the disease as a consequence of a GAA triplet repeat expansion in the first intron of the ...
Pandolfo, Massimo
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