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Exploring frataxin function [PDF]
IUBMB Life, 2011 AbstractFrataxin is a nuclear‐encoded mitochondrial protein highly conserved in prokaryotes and eukaryotes. Its deficiency was initially described as the phenotype of Friedreich's ataxia, an autosomal recessive disease in humans. Although several functions have been described for frataxin, that is, involvement in Fe‐S cluster and heme synthesis, energy
Busi, María Victoria +1 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 +6 more
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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 +5 more
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Plant Frataxin in Metal Metabolism [PDF]
Frontiers in Plant Science, 2018 La frataxina es una proteína altamente conservada de procariotas a eucariotas. Se han postulado varias funciones relacionadas con el metabolismo del hierro para esta proteína, incluyendo el grupo Fe-S y la síntesis de hemo, la respuesta al daño oxidativo y la fosforilación oxidativa.
Diego F. Gomez‐Casati +2 more
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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 +4 more
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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 +3 more
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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 +2 more
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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 +6 more
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Identification of Frataxin as a regulator of ferroptosis
Redox Biology, 2020 Ferroptosis is a newly discovered form of non-apoptotic regulated cell death and is characterized by iron-dependent and lipid peroxidation. Due to the enhanced dependence on iron in cancer cells, induction of ferroptosis is becoming a promising therapeutic strategy.
Jing Du +17 more
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Crystal Structure of Human Frataxin [PDF]
Journal of Biological Chemistry, 2000 Friedreich's ataxia, an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cardiomyopathy, and diabetes mellitus, is caused by decreased frataxin production or function. The structure of human frataxin, which we have determined at 1.8-A resolution, reveals a novel protein fold.
S, Dhe-Paganon +4 more
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