Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?
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Friedreich ataxia is a neurodegenerative disease with an autosomal recessive inheritance. In most patients, the disease is caused by the presence of trinucleotide GAA expansions in the ﬁrst intron of the frataxin gene. These expansions cause the decreased expression of this mitochondrial protein. Many evidences indicate that frataxin deﬁciency causes the deregulation of cellular iron homeostasis. In this review, we will discuss several hypotheses proposed for frataxin function, their caveats, and how they could provide an explanation for the deregulation of iron homeostasis found in frataxin-deﬁcient cells. We will also focus on the potential mechanisms causing cellular dysfunction in Friedreich Ataxia and on the potential use of the iron chelator deferiprone as a therapeutic agent for this disease.
Is part ofPharmaceuticals, 2018, vol.11, núm. 3, art. 89, p. 1-15
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Moreno Cermeño, Armando J.; Alsina Obiols, David; Cabiscol Català, Elisa; Tamarit Sumalla, Jordi; Ros Salvador, Joaquim (Elsevier, 2013)Frataxin is a mitochondrial protein involved in iron metabolism whose deficiency in humans causes Friedreich ataxia. We performed transcriptomic and proteomic analyses of conditional Yeast Frataxin Homologue (Yfh1) mutants ...
Alsina Obiols, David; Ros Salvador, Joaquim; Tamarit Sumalla, Jordi (Elsevier, 2018)Yeast frataxin homolog (Yfh1) is the orthologue of human frataxin, a mitochondrial protein whose deficiency causes Friedreich Ataxia. Yfh1 deficiency activates Aft1, a transcription factor governing iron homeostasis in ...
Tamarit Sumalla, Jordi; Hoogh, Anouk de; Obis Monné, Èlia; Alsina Obiols, David; Cabiscol Català, Elisa; Ros Salvador, Joaquim (Elsevier, 2012)Protein carbonyl detection has been commonly used to analyze the degree of damage to proteins under oxidative stress conditions. Most laboratories rely on derivatization of carbonyl groups with dinitrophenylhydrazine ...