Movement Disorders (revue)

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Erythropoietin in Friedreich ataxia: no effect on frataxin in a randomized controlled trial.

Identifieur interne : 000D98 ( Main/Exploration ); précédent : 000D97; suivant : 000D99

Erythropoietin in Friedreich ataxia: no effect on frataxin in a randomized controlled trial.

Auteurs : Caterina Mariotti [Italie] ; Roberto Fancellu ; Serena Caldarazzo ; Lorenzo Nanetti ; Daniela Di Bella ; Massimo Plumari ; Giuseppe Lauria ; Maria D. Cappellini ; Lorena Duca ; Alessandra Solari ; Franco Taroni

Source :

RBID : pubmed:22411849

English descriptors

Abstract

Friedreich ataxia is a rare disease caused by GAA-trinucleotide-repeat expansions in the frataxin gene, leading to marked reduction of qualitatively normal frataxin protein. Recently, human recombinant erythropoietin was reported to increase frataxin levels in patients with Friedreich ataxia.

DOI: 10.1002/mds.24066
PubMed: 22411849


Affiliations:


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Le document en format XML

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<name sortKey="Caldarazzo, Serena" sort="Caldarazzo, Serena" uniqKey="Caldarazzo S" first="Serena" last="Caldarazzo">Serena Caldarazzo</name>
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<name sortKey="Nanetti, Lorenzo" sort="Nanetti, Lorenzo" uniqKey="Nanetti L" first="Lorenzo" last="Nanetti">Lorenzo Nanetti</name>
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<name sortKey="Di Bella, Daniela" sort="Di Bella, Daniela" uniqKey="Di Bella D" first="Daniela" last="Di Bella">Daniela Di Bella</name>
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<name sortKey="Cappellini, Maria D" sort="Cappellini, Maria D" uniqKey="Cappellini M" first="Maria D" last="Cappellini">Maria D. Cappellini</name>
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<term>Erythropoietin (therapeutic use)</term>
<term>Female</term>
<term>Friedreich Ataxia (drug therapy)</term>
<term>Friedreich Ataxia (metabolism)</term>
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<term>Iron-Binding Proteins (metabolism)</term>
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<term>Recombinant Proteins (therapeutic use)</term>
<term>Statistics, Nonparametric</term>
<term>Time Factors</term>
<term>Treatment Outcome</term>
<term>Ubiquinone (analogs & derivatives)</term>
<term>Ubiquinone (therapeutic use)</term>
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<term>Antioxidants</term>
<term>Erythropoietin</term>
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<term>Friedreich Ataxia</term>
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<div type="abstract" xml:lang="en">Friedreich ataxia is a rare disease caused by GAA-trinucleotide-repeat expansions in the frataxin gene, leading to marked reduction of qualitatively normal frataxin protein. Recently, human recombinant erythropoietin was reported to increase frataxin levels in patients with Friedreich ataxia.</div>
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<name sortKey="Di Bella, Daniela" sort="Di Bella, Daniela" uniqKey="Di Bella D" first="Daniela" last="Di Bella">Daniela Di Bella</name>
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