Results 91 to 100 of about 389 (134)

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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Frataxin and frataxin deficiency in Friedreich's ataxia

Journal of the Neurological Sciences, 2003
A deficiency in the protein frataxin causes Friedreich’s ataxia (FRDA). Missense mutations in f2% of disease alleles cause a functional deficiency of frataxin, while f98% of disease alleles have a guanine-adenine-adenine (GAA) repeat expansion in the first intron [1]. The expansion decreases frataxin expression by interfering with transcription [2].
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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.
Andrew Dancis, Timothy L Stemmler, Emmanuel Lesuisse   +2 more
exaly   +3 more sources

Frataxin: a protein in search for a function

Journal of Neurochemistry, 2013
AbstractReduced levels of the protein frataxin cause the neurodegenerative disease Friedreich's ataxia. Pathology is associated with disruption of iron–sulfur cluster biosynthesis, mitochondrial iron overload, and oxidative stress. Frataxin is a highly conserved iron‐binding protein present in most organisms.
Pastore, Annalisa, Puccio, Hélène
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Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia

Movement Disorders, 2011
AbstractBackground:Friedreich ataxia is an autosomal recessive disorder caused by mutations in the frataxin gene, leading to reduced levels of the mitochondrial protein frataxin. Assays to quantitatively measure frataxin in peripheral blood have been established.
Wolfgang, Nachbauer, Julia, Wanschitz, Hannes, Steinkellner, Andreas, Eigentler, Brigitte, Sturm, Kurt, Hufler, Barbara, Scheiber-Mojdehkar, Werner, Poewe, Markus, Reindl, Sylvia, Boesch   +9 more
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Copper redox chemistry of plant frataxins

Journal of Inorganic Biochemistry, 2018
The presence of a conserved cysteine residue in the C-terminal amino acid sequences of plant frataxins differentiates these frataxins from those of other kingdoms and may be key in frataxin assembly and function. We report a full study on the ability of Arabidopsis (AtFH) and Zea mays (ZmFH-1 and ZmFH-2) frataxins to assemble into disulfide-bridged ...
Sánchez, Manu, Palacios, Oscar, Buchensky, Celeste, Sabio, Laura, Gomez Casati, Diego Fabian, Pagani, María Ayelén, Capdevila, Mercè, Atrian, Silvia, Dominguez Vera, Jose M.   +8 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 ...
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Candida albicans lacking the frataxin homologue: a relevant yeast model for studying the role of frataxin

Molecular Microbiology, 2004
SummaryWe cloned the CaYFH1 gene that encodes the yeast frataxin homologue in Candida albicans. CaYFH1 was expressed in Δyfh1 Saccharomyces cerevisiae cells, where it compensated for all the phenotypes tested except for the lack of cytochromes. Double ΔCayfh1/ΔCayfh1 mutant had severe defective growth, accumulated iron in their mitochondria, lacked ...
Renata, Santos, Nicole, Buisson, Simon A B, Knight, Andrew, Dancis, Jean-Michel, Camadro, Emmanuel, Lesuisse   +5 more
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Mechanisms of iron and copper–frataxin interactions

Metallomics, 2017
Investigation of the mechanisms of mitochondrial metal binding to frataxinin vitro.
T. H. L. Han, J. M. Camadro, R. Santos, E. Lesuisse, J. M. El Hage Chahine, N. T. Ha-Duong   +5 more
openaire   +3 more sources

The frataxin story

Neuromuscular Disorders, 1997
Victoria Campuzano, Hana Koutnikova, Françoise Foury, Mireille Cossée, Ornella Cazzalini, Michel Koenig   +5 more
openaire   +1 more source