Results 181 to 190 of about 5,449 (210)

Frataxin fracas

Nature Genetics, 1997
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Cossee M, Campuzano V, Koutnikova H, Fischbeck K, Mandel JL, Koenig M, Bidichandani SI, Patel PI, Molte MD, Canizares J, DeFrutos R, Pianese L, Cavalcanti F, MONTICELLI A, Cocozza S, Montermini L, Pandolfo M   +16 more
openaire   +4 more sources

Functional studies of frataxin

Acta Paediatrica, 2004
Mitochondria generate adenosine triphosphate (ATP) but also dangerous reactive oxygen species (ROS). One‐electron reduction of dioxygen in the early stages of the electron transport chain yields a superoxide radical that is detoxified by mitochondrial superoxide dismutase to give hydrogen peroxide.
G, Isaya, H A, O'Neill, O, Gakh, S, Park, R, Mantcheva, S M, Mooney   +5 more
openaire   +2 more sources

Frataxin deficiency induces Schwann cell inflammation and death

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2009
Mutations in the frataxin gene cause dorsal root ganglion demyelination and neurodegeneration, which leads to Friedreich's ataxia. However the consequences of frataxin depletion have not been measured in dorsal root ganglia or Schwann cells.
Yuxi Shan, Bruce D Hammock, Gino Cortopassi   +2 more
exaly   +2 more sources

The kinetics of folding of frataxin

Physical Chemistry Chemical Physics, 2014
The role of the denatured state in protein folding represents a key issue for the proper evaluation of folding kinetics and mechanisms. The yeast ortholog of the human frataxin, a mitochondrial protein essential for iron homeostasis and responsible for Friedreich's ataxia, has been shown to undergo cold denaturation above 0 °C, in the absence of ...
BONETTI, DANIELA, TOTO, ANGELO, Giri R, Morrone A, Sanfelice D, Pastore A, Temussi P, GIANNI, STEFANO, BRUNORI, Maurizio   +8 more
openaire   +5 more sources

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].
openaire   +2 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.
Annalisa Pastore, Helene Puccio
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +3 more sources

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
openaire   +2 more sources

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