Abnormal iron metabolism and oxidative stress in mice expressing a mutant form of the ferritin light polypeptide gene
Author
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Barbeito, Ana G.
Author
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Garringer, Holly J.
Author
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Baraibar, Martin A.
Author
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Gao, Xiaoying
Author
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Arredondo, Miguel
Author
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Núñez González, Marco
Author
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Smith, Mark A.
Author
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Ghetti, Bernardino
Author
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Vidal, Ruben
Admission date
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2019-03-11T12:57:32Z
Available date
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2019-03-11T12:57:32Z
Publication date
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2009
Cita de ítem
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Journal of Neurochemistry, Volumen 109, Issue 4, 2018, Pages 1067-1078
Identifier
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00223042
Identifier
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14714159
Identifier
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10.1111/j.1471-4159.2009.06028.x
Identifier
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https://repositorio.uchile.cl/handle/2250/164755
Abstract
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Insertional mutations in exon 4 of the ferritin light chain (FTL) gene are associated with hereditary ferritinopathy (HF) or neuroferritinopathy, an autosomal dominant neurodegenerative disease characterized by progressive impairment of motor and cognitive functions. To determine the pathogenic mechanisms by which mutations in FTL lead to neurodegeneration, we investigated iron metabolism and markers of oxidative stress in the brain of transgenic (Tg) mice that express the mutant human FTL498-499InsTC cDNA. Compared with wild-type mice, brain extracts from Tg (FTL-Tg) mice showed an increase in the cytoplasmic levels of both FTL and ferritin heavy chain polypeptides, a decrease in the protein and mRNA levels of transferrin receptor-1, and a significant increase in iron levels. Transgenic mice also showed the presence of markers for lipid peroxidation, protein carbonyls, and nitrone-protein adducts in the brain. However, gene expression analysis of iron management proteins in the liver