SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia.
Identifieur interne : 000210 ( Main/Exploration ); précédent : 000209; suivant : 000211SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia.
Auteurs : Carlotta Bon [Italie] ; Riccardo Luffarelli [Italie] ; Roberta Russo [Italie] ; Silvia Fortuni [Italie] ; Bianca Pierattini [Italie] ; Chiara Santulli [Italie] ; Cristina Fimiani [Italie] ; Francesca Persichetti [Italie] ; Diego Cotella [Italie] ; Antonello Mallamaci [Italie] ; Claudio Santoro [Italie] ; Piero Carninci [Japon] ; Stefano Espinoza [Italie] ; Roberto Testi [Italie] ; Silvia Zucchelli [Italie] ; Ivano Cond [Italie] ; Stefano Gustincich [Italie]Source :
- Nucleic acids research [ 1362-4962 ] ; 2019.
Descripteurs français
- KwdFr :
- ARN messager (génétique), ARN messager (métabolisme), ARN non traduit (génétique), ARN non traduit (métabolisme), Aconitate hydratase (métabolisme), Ataxie de Friedreich (génétique), Fibroblastes (métabolisme), Humains (MeSH), Lignée cellulaire (MeSH), Lymphocytes (métabolisme), Modèles biologiques (MeSH), Phénotype (MeSH), Protéines de liaison au fer (génétique), Régulation de l'expression des gènes (MeSH).
- MESH :
English descriptors
- KwdEn :
- Aconitate Hydratase (metabolism), Cell Line (MeSH), Fibroblasts (metabolism), Friedreich Ataxia (genetics), Gene Expression Regulation (MeSH), Humans (MeSH), Iron-Binding Proteins (genetics), Lymphocytes (metabolism), Models, Biological (MeSH), Phenotype (MeSH), RNA, Messenger (genetics), RNA, Messenger (metabolism), RNA, Untranslated (genetics), RNA, Untranslated (metabolism).
- MESH :
- chemical , genetics : Iron-Binding Proteins, RNA, Messenger, RNA, Untranslated.
- chemical , metabolism : Aconitate Hydratase, RNA, Messenger, RNA, Untranslated.
- genetics : Friedreich Ataxia.
- metabolism : Fibroblasts, Lymphocytes.
- Cell Line, Gene Expression Regulation, Humans, Models, Biological, Phenotype.
Abstract
Friedreich's ataxia (FRDA) is an untreatable disorder with neuro- and cardio-degenerative progression. This monogenic disease is caused by the hyper-expansion of naturally occurring GAA repeats in the first intron of the FXN gene, encoding for frataxin, a protein implicated in the biogenesis of iron-sulfur clusters. As the genetic defect interferes with FXN transcription, FRDA patients express a normal frataxin protein but at insufficient levels. Thus, current therapeutic strategies are mostly aimed to restore physiological FXN expression. We have previously described SINEUPs, natural and synthetic antisense long non-coding RNAs, which promote translation of partially overlapping mRNAs through the activity of an embedded SINEB2 domain. Here, by in vitro screening, we have identified a number of SINEUPs targeting human FXN mRNA and capable to up-regulate frataxin protein to physiological amounts acting at the post-transcriptional level. Furthermore, FXN-specific SINEUPs promote the recovery of disease-associated mitochondrial aconitase defects in FRDA-derived cells. In summary, we provide evidence that SINEUPs may be the first gene-specific therapeutic approach to activate FXN translation in FRDA and, more broadly, a novel scalable platform to develop new RNA-based therapies for haploinsufficient diseases.
DOI: 10.1093/nar/gkz798
PubMed: 31584077
PubMed Central: PMC6847766
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia.</title>
<author><name sortKey="Bon, Carlotta" sort="Bon, Carlotta" uniqKey="Bon C" first="Carlotta" last="Bon">Carlotta Bon</name>
<affiliation wicri:level="1"><nlm:affiliation>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova</wicri:regionArea>
<wicri:noRegion>Genova</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Area of Neuroscience, International School for Advanced Studies (SISSA)</wicri:regionArea>
<wicri:noRegion>International School for Advanced Studies (SISSA)</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Luffarelli, Riccardo" sort="Luffarelli, Riccardo" uniqKey="Luffarelli R" first="Riccardo" last="Luffarelli">Riccardo Luffarelli</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Russo, Roberta" sort="Russo, Roberta" uniqKey="Russo R" first="Roberta" last="Russo">Roberta Russo</name>
<affiliation wicri:level="1"><nlm:affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Area of Neuroscience, International School for Advanced Studies (SISSA)</wicri:regionArea>
<wicri:noRegion>International School for Advanced Studies (SISSA)</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fortuni, Silvia" sort="Fortuni, Silvia" uniqKey="Fortuni S" first="Silvia" last="Fortuni">Silvia Fortuni</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pierattini, Bianca" sort="Pierattini, Bianca" uniqKey="Pierattini B" first="Bianca" last="Pierattini">Bianca Pierattini</name>
<affiliation wicri:level="1"><nlm:affiliation>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova</wicri:regionArea>
<wicri:noRegion>Genova</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Area of Neuroscience, International School for Advanced Studies (SISSA)</wicri:regionArea>
<wicri:noRegion>International School for Advanced Studies (SISSA)</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Santulli, Chiara" sort="Santulli, Chiara" uniqKey="Santulli C" first="Chiara" last="Santulli">Chiara Santulli</name>
<affiliation wicri:level="1"><nlm:affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Area of Neuroscience, International School for Advanced Studies (SISSA)</wicri:regionArea>
<wicri:noRegion>International School for Advanced Studies (SISSA)</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fimiani, Cristina" sort="Fimiani, Cristina" uniqKey="Fimiani C" first="Cristina" last="Fimiani">Cristina Fimiani</name>
<affiliation wicri:level="1"><nlm:affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Area of Neuroscience, International School for Advanced Studies (SISSA)</wicri:regionArea>
<wicri:noRegion>International School for Advanced Studies (SISSA)</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Persichetti, Francesca" sort="Persichetti, Francesca" uniqKey="Persichetti F" first="Francesca" last="Persichetti">Francesca Persichetti</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara</wicri:regionArea>
<wicri:noRegion>Novara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cotella, Diego" sort="Cotella, Diego" uniqKey="Cotella D" first="Diego" last="Cotella">Diego Cotella</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara</wicri:regionArea>
<wicri:noRegion>Novara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mallamaci, Antonello" sort="Mallamaci, Antonello" uniqKey="Mallamaci A" first="Antonello" last="Mallamaci">Antonello Mallamaci</name>
<affiliation wicri:level="1"><nlm:affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Area of Neuroscience, International School for Advanced Studies (SISSA)</wicri:regionArea>
<wicri:noRegion>International School for Advanced Studies (SISSA)</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Santoro, Claudio" sort="Santoro, Claudio" uniqKey="Santoro C" first="Claudio" last="Santoro">Claudio Santoro</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara</wicri:regionArea>
<wicri:noRegion>Novara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Carninci, Piero" sort="Carninci, Piero" uniqKey="Carninci P" first="Piero" last="Carninci">Piero Carninci</name>
<affiliation wicri:level="1"><nlm:affiliation>RIKEN Center for Life Science Technologies, Division of Genomic Technologies, Yokohama, Kanagawa, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>RIKEN Center for Life Science Technologies, Division of Genomic Technologies, Yokohama, Kanagawa</wicri:regionArea>
<wicri:noRegion>Kanagawa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Espinoza, Stefano" sort="Espinoza, Stefano" uniqKey="Espinoza S" first="Stefano" last="Espinoza">Stefano Espinoza</name>
<affiliation wicri:level="1"><nlm:affiliation>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova</wicri:regionArea>
<wicri:noRegion>Genova</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Testi, Roberto" sort="Testi, Roberto" uniqKey="Testi R" first="Roberto" last="Testi">Roberto Testi</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zucchelli, Silvia" sort="Zucchelli, Silvia" uniqKey="Zucchelli S" first="Silvia" last="Zucchelli">Silvia Zucchelli</name>
<affiliation wicri:level="1"><nlm:affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Area of Neuroscience, International School for Advanced Studies (SISSA)</wicri:regionArea>
<wicri:noRegion>International School for Advanced Studies (SISSA)</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:affiliation>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara</wicri:regionArea>
<wicri:noRegion>Novara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cond, Ivano" sort="Cond, Ivano" uniqKey="Cond I" first="Ivano" last="Cond">Ivano Cond</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gustincich, Stefano" sort="Gustincich, Stefano" uniqKey="Gustincich S" first="Stefano" last="Gustincich">Stefano Gustincich</name>
<affiliation wicri:level="1"><nlm:affiliation>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova</wicri:regionArea>
<wicri:noRegion>Genova</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Area of Neuroscience, International School for Advanced Studies (SISSA)</wicri:regionArea>
<wicri:noRegion>International School for Advanced Studies (SISSA)</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2019">2019</date>
<idno type="RBID">pubmed:31584077</idno>
<idno type="pmid">31584077</idno>
<idno type="doi">10.1093/nar/gkz798</idno>
<idno type="pmc">PMC6847766</idno>
<idno type="wicri:Area/Main/Corpus">000217</idno>
<idno type="wicri:explorRef" wicri:stream="Main" wicri:step="Corpus" wicri:corpus="PubMed">000217</idno>
<idno type="wicri:Area/Main/Curation">000217</idno>
<idno type="wicri:explorRef" wicri:stream="Main" wicri:step="Curation">000217</idno>
<idno type="wicri:Area/Main/Exploration">000217</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia.</title>
<author><name sortKey="Bon, Carlotta" sort="Bon, Carlotta" uniqKey="Bon C" first="Carlotta" last="Bon">Carlotta Bon</name>
<affiliation wicri:level="1"><nlm:affiliation>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova</wicri:regionArea>
<wicri:noRegion>Genova</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Area of Neuroscience, International School for Advanced Studies (SISSA)</wicri:regionArea>
<wicri:noRegion>International School for Advanced Studies (SISSA)</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Luffarelli, Riccardo" sort="Luffarelli, Riccardo" uniqKey="Luffarelli R" first="Riccardo" last="Luffarelli">Riccardo Luffarelli</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Russo, Roberta" sort="Russo, Roberta" uniqKey="Russo R" first="Roberta" last="Russo">Roberta Russo</name>
<affiliation wicri:level="1"><nlm:affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Area of Neuroscience, International School for Advanced Studies (SISSA)</wicri:regionArea>
<wicri:noRegion>International School for Advanced Studies (SISSA)</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fortuni, Silvia" sort="Fortuni, Silvia" uniqKey="Fortuni S" first="Silvia" last="Fortuni">Silvia Fortuni</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pierattini, Bianca" sort="Pierattini, Bianca" uniqKey="Pierattini B" first="Bianca" last="Pierattini">Bianca Pierattini</name>
<affiliation wicri:level="1"><nlm:affiliation>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova</wicri:regionArea>
<wicri:noRegion>Genova</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Area of Neuroscience, International School for Advanced Studies (SISSA)</wicri:regionArea>
<wicri:noRegion>International School for Advanced Studies (SISSA)</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Santulli, Chiara" sort="Santulli, Chiara" uniqKey="Santulli C" first="Chiara" last="Santulli">Chiara Santulli</name>
<affiliation wicri:level="1"><nlm:affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Area of Neuroscience, International School for Advanced Studies (SISSA)</wicri:regionArea>
<wicri:noRegion>International School for Advanced Studies (SISSA)</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fimiani, Cristina" sort="Fimiani, Cristina" uniqKey="Fimiani C" first="Cristina" last="Fimiani">Cristina Fimiani</name>
<affiliation wicri:level="1"><nlm:affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Area of Neuroscience, International School for Advanced Studies (SISSA)</wicri:regionArea>
<wicri:noRegion>International School for Advanced Studies (SISSA)</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Persichetti, Francesca" sort="Persichetti, Francesca" uniqKey="Persichetti F" first="Francesca" last="Persichetti">Francesca Persichetti</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara</wicri:regionArea>
<wicri:noRegion>Novara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cotella, Diego" sort="Cotella, Diego" uniqKey="Cotella D" first="Diego" last="Cotella">Diego Cotella</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara</wicri:regionArea>
<wicri:noRegion>Novara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mallamaci, Antonello" sort="Mallamaci, Antonello" uniqKey="Mallamaci A" first="Antonello" last="Mallamaci">Antonello Mallamaci</name>
<affiliation wicri:level="1"><nlm:affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Area of Neuroscience, International School for Advanced Studies (SISSA)</wicri:regionArea>
<wicri:noRegion>International School for Advanced Studies (SISSA)</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Santoro, Claudio" sort="Santoro, Claudio" uniqKey="Santoro C" first="Claudio" last="Santoro">Claudio Santoro</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara</wicri:regionArea>
<wicri:noRegion>Novara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Carninci, Piero" sort="Carninci, Piero" uniqKey="Carninci P" first="Piero" last="Carninci">Piero Carninci</name>
<affiliation wicri:level="1"><nlm:affiliation>RIKEN Center for Life Science Technologies, Division of Genomic Technologies, Yokohama, Kanagawa, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>RIKEN Center for Life Science Technologies, Division of Genomic Technologies, Yokohama, Kanagawa</wicri:regionArea>
<wicri:noRegion>Kanagawa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Espinoza, Stefano" sort="Espinoza, Stefano" uniqKey="Espinoza S" first="Stefano" last="Espinoza">Stefano Espinoza</name>
<affiliation wicri:level="1"><nlm:affiliation>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova</wicri:regionArea>
<wicri:noRegion>Genova</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Testi, Roberto" sort="Testi, Roberto" uniqKey="Testi R" first="Roberto" last="Testi">Roberto Testi</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zucchelli, Silvia" sort="Zucchelli, Silvia" uniqKey="Zucchelli S" first="Silvia" last="Zucchelli">Silvia Zucchelli</name>
<affiliation wicri:level="1"><nlm:affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Area of Neuroscience, International School for Advanced Studies (SISSA)</wicri:regionArea>
<wicri:noRegion>International School for Advanced Studies (SISSA)</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:affiliation>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara</wicri:regionArea>
<wicri:noRegion>Novara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cond, Ivano" sort="Cond, Ivano" uniqKey="Cond I" first="Ivano" last="Cond">Ivano Cond</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gustincich, Stefano" sort="Gustincich, Stefano" uniqKey="Gustincich S" first="Stefano" last="Gustincich">Stefano Gustincich</name>
<affiliation wicri:level="1"><nlm:affiliation>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova</wicri:regionArea>
<wicri:noRegion>Genova</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Area of Neuroscience, International School for Advanced Studies (SISSA)</wicri:regionArea>
<wicri:noRegion>International School for Advanced Studies (SISSA)</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Nucleic acids research</title>
<idno type="eISSN">1362-4962</idno>
<imprint><date when="2019" type="published">2019</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aconitate Hydratase (metabolism)</term>
<term>Cell Line (MeSH)</term>
<term>Fibroblasts (metabolism)</term>
<term>Friedreich Ataxia (genetics)</term>
<term>Gene Expression Regulation (MeSH)</term>
<term>Humans (MeSH)</term>
<term>Iron-Binding Proteins (genetics)</term>
<term>Lymphocytes (metabolism)</term>
<term>Models, Biological (MeSH)</term>
<term>Phenotype (MeSH)</term>
<term>RNA, Messenger (genetics)</term>
<term>RNA, Messenger (metabolism)</term>
<term>RNA, Untranslated (genetics)</term>
<term>RNA, Untranslated (metabolism)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>ARN messager (génétique)</term>
<term>ARN messager (métabolisme)</term>
<term>ARN non traduit (génétique)</term>
<term>ARN non traduit (métabolisme)</term>
<term>Aconitate hydratase (métabolisme)</term>
<term>Ataxie de Friedreich (génétique)</term>
<term>Fibroblastes (métabolisme)</term>
<term>Humains (MeSH)</term>
<term>Lignée cellulaire (MeSH)</term>
<term>Lymphocytes (métabolisme)</term>
<term>Modèles biologiques (MeSH)</term>
<term>Phénotype (MeSH)</term>
<term>Protéines de liaison au fer (génétique)</term>
<term>Régulation de l'expression des gènes (MeSH)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Iron-Binding Proteins</term>
<term>RNA, Messenger</term>
<term>RNA, Untranslated</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Aconitate Hydratase</term>
<term>RNA, Messenger</term>
<term>RNA, Untranslated</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Friedreich Ataxia</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>ARN messager</term>
<term>ARN non traduit</term>
<term>Ataxie de Friedreich</term>
<term>Protéines de liaison au fer</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Fibroblasts</term>
<term>Lymphocytes</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>ARN messager</term>
<term>ARN non traduit</term>
<term>Aconitate hydratase</term>
<term>Fibroblastes</term>
<term>Lymphocytes</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Cell Line</term>
<term>Gene Expression Regulation</term>
<term>Humans</term>
<term>Models, Biological</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Humains</term>
<term>Lignée cellulaire</term>
<term>Modèles biologiques</term>
<term>Phénotype</term>
<term>Régulation de l'expression des gènes</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Friedreich's ataxia (FRDA) is an untreatable disorder with neuro- and cardio-degenerative progression. This monogenic disease is caused by the hyper-expansion of naturally occurring GAA repeats in the first intron of the FXN gene, encoding for frataxin, a protein implicated in the biogenesis of iron-sulfur clusters. As the genetic defect interferes with FXN transcription, FRDA patients express a normal frataxin protein but at insufficient levels. Thus, current therapeutic strategies are mostly aimed to restore physiological FXN expression. We have previously described SINEUPs, natural and synthetic antisense long non-coding RNAs, which promote translation of partially overlapping mRNAs through the activity of an embedded SINEB2 domain. Here, by in vitro screening, we have identified a number of SINEUPs targeting human FXN mRNA and capable to up-regulate frataxin protein to physiological amounts acting at the post-transcriptional level. Furthermore, FXN-specific SINEUPs promote the recovery of disease-associated mitochondrial aconitase defects in FRDA-derived cells. In summary, we provide evidence that SINEUPs may be the first gene-specific therapeutic approach to activate FXN translation in FRDA and, more broadly, a novel scalable platform to develop new RNA-based therapies for haploinsufficient diseases.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">31584077</PMID>
<DateCompleted><Year>2020</Year>
<Month>05</Month>
<Day>12</Day>
</DateCompleted>
<DateRevised><Year>2020</Year>
<Month>05</Month>
<Day>18</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1362-4962</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>47</Volume>
<Issue>20</Issue>
<PubDate><Year>2019</Year>
<Month>11</Month>
<Day>18</Day>
</PubDate>
</JournalIssue>
<Title>Nucleic acids research</Title>
<ISOAbbreviation>Nucleic Acids Res</ISOAbbreviation>
</Journal>
<ArticleTitle>SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia.</ArticleTitle>
<Pagination><MedlinePgn>10728-10743</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1093/nar/gkz798</ELocationID>
<Abstract><AbstractText>Friedreich's ataxia (FRDA) is an untreatable disorder with neuro- and cardio-degenerative progression. This monogenic disease is caused by the hyper-expansion of naturally occurring GAA repeats in the first intron of the FXN gene, encoding for frataxin, a protein implicated in the biogenesis of iron-sulfur clusters. As the genetic defect interferes with FXN transcription, FRDA patients express a normal frataxin protein but at insufficient levels. Thus, current therapeutic strategies are mostly aimed to restore physiological FXN expression. We have previously described SINEUPs, natural and synthetic antisense long non-coding RNAs, which promote translation of partially overlapping mRNAs through the activity of an embedded SINEB2 domain. Here, by in vitro screening, we have identified a number of SINEUPs targeting human FXN mRNA and capable to up-regulate frataxin protein to physiological amounts acting at the post-transcriptional level. Furthermore, FXN-specific SINEUPs promote the recovery of disease-associated mitochondrial aconitase defects in FRDA-derived cells. In summary, we provide evidence that SINEUPs may be the first gene-specific therapeutic approach to activate FXN translation in FRDA and, more broadly, a novel scalable platform to develop new RNA-based therapies for haploinsufficient diseases.</AbstractText>
<CopyrightInformation>© The Author(s) 2019. Published by Oxford University Press on behalf of Nucleic Acids Research.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Bon</LastName>
<ForeName>Carlotta</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova, Italy.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Luffarelli</LastName>
<ForeName>Riccardo</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Russo</LastName>
<ForeName>Roberta</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Fortuni</LastName>
<ForeName>Silvia</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Pierattini</LastName>
<ForeName>Bianca</ForeName>
<Initials>B</Initials>
<AffiliationInfo><Affiliation>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova, Italy.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Santulli</LastName>
<ForeName>Chiara</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Fimiani</LastName>
<ForeName>Cristina</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Persichetti</LastName>
<ForeName>Francesca</ForeName>
<Initials>F</Initials>
<AffiliationInfo><Affiliation>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Cotella</LastName>
<ForeName>Diego</ForeName>
<Initials>D</Initials>
<AffiliationInfo><Affiliation>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Mallamaci</LastName>
<ForeName>Antonello</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Santoro</LastName>
<ForeName>Claudio</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Carninci</LastName>
<ForeName>Piero</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>RIKEN Center for Life Science Technologies, Division of Genomic Technologies, Yokohama, Kanagawa, Japan.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Espinoza</LastName>
<ForeName>Stefano</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Testi</LastName>
<ForeName>Roberto</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Zucchelli</LastName>
<ForeName>Silvia</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Health Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale (UPO), Novara, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Condò</LastName>
<ForeName>Ivano</ForeName>
<Initials>I</Initials>
<AffiliationInfo><Affiliation>Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Gustincich</LastName>
<ForeName>Stefano</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Central RNA Laboratory, Istituto Italiano di Tecnologia (IIT), Genova, Italy.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Area of Neuroscience, International School for Advanced Studies (SISSA), Italy.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
</Article>
<MedlineJournalInfo><Country>England</Country>
<MedlineTA>Nucleic Acids Res</MedlineTA>
<NlmUniqueID>0411011</NlmUniqueID>
<ISSNLinking>0305-1048</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D033862">Iron-Binding Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D012333">RNA, Messenger</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D022661">RNA, Untranslated</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C098527">frataxin</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 4.2.1.3</RegistryNumber>
<NameOfSubstance UI="D000154">Aconitate Hydratase</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName UI="D000154" MajorTopicYN="N">Aconitate Hydratase</DescriptorName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002460" MajorTopicYN="N">Cell Line</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005347" MajorTopicYN="N">Fibroblasts</DescriptorName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005621" MajorTopicYN="N">Friedreich Ataxia</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005786" MajorTopicYN="Y">Gene Expression Regulation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D033862" MajorTopicYN="N">Iron-Binding Proteins</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008214" MajorTopicYN="N">Lymphocytes</DescriptorName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008954" MajorTopicYN="Y">Models, Biological</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D012333" MajorTopicYN="N">RNA, Messenger</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D022661" MajorTopicYN="N">RNA, Untranslated</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
<QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="accepted"><Year>2019</Year>
<Month>09</Month>
<Day>28</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised"><Year>2019</Year>
<Month>08</Month>
<Day>08</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="received"><Year>2019</Year>
<Month>02</Month>
<Day>21</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2019</Year>
<Month>10</Month>
<Day>5</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2020</Year>
<Month>5</Month>
<Day>19</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2019</Year>
<Month>10</Month>
<Day>5</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">31584077</ArticleId>
<ArticleId IdType="pii">5580914</ArticleId>
<ArticleId IdType="doi">10.1093/nar/gkz798</ArticleId>
<ArticleId IdType="pmc">PMC6847766</ArticleId>
</ArticleIdList>
<ReferenceList><Reference><Citation>Nature. 2014 Mar 27;507(7493):462-70</Citation>
<ArticleIdList><ArticleId IdType="pubmed">24670764</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Neurochem. 2013 Aug;126 Suppl 1:53-64</Citation>
<ArticleIdList><ArticleId IdType="pubmed">23859341</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Neurol Sci. 2011 Apr 15;303(1-2):1-12</Citation>
<ArticleIdList><ArticleId IdType="pubmed">21315377</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Science. 2004 Jul 9;305(5681):242-5</Citation>
<ArticleIdList><ArticleId IdType="pubmed">15247478</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Nat Chem Biol. 2006 Oct;2(10):551-8</Citation>
<ArticleIdList><ArticleId IdType="pubmed">16921367</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Am J Hum Genet. 1996 Sep;59(3):554-60</Citation>
<ArticleIdList><ArticleId IdType="pubmed">8751856</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Front Cell Neurosci. 2015 May 13;9:174</Citation>
<ArticleIdList><ArticleId IdType="pubmed">26029048</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Neurochem. 2013 Aug;126 Suppl 1:65-79</Citation>
<ArticleIdList><ArticleId IdType="pubmed">23859342</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Neurobiol Dis. 2015 Mar;75:91-9</Citation>
<ArticleIdList><ArticleId IdType="pubmed">25549872</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Hum Mol Genet. 1997 Oct;6(11):1771-80</Citation>
<ArticleIdList><ArticleId IdType="pubmed">9302253</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 2017 Aug 4;292(31):12754-12763</Citation>
<ArticleIdList><ArticleId IdType="pubmed">28615445</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Hum Mol Genet. 2015 Aug 1;24(15):4296-305</Citation>
<ArticleIdList><ArticleId IdType="pubmed">25948553</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Hum Mol Genet. 2008 Mar 1;17(5):735-46</Citation>
<ArticleIdList><ArticleId IdType="pubmed">18045775</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Mol Genet Metab. 2010 Oct-Nov;101(2-3):238-45</Citation>
<ArticleIdList><ArticleId IdType="pubmed">20675166</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Nat Commun. 2016 Feb 04;7:10606</Citation>
<ArticleIdList><ArticleId IdType="pubmed">26842135</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Hum Mol Genet. 2007 Jul 1;16(13):1534-40</Citation>
<ArticleIdList><ArticleId IdType="pubmed">17468497</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>PLoS One. 2018 Feb 7;13(2):e0183229</Citation>
<ArticleIdList><ArticleId IdType="pubmed">29414979</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 2006 Jun 16;281(24):16750-6</Citation>
<ArticleIdList><ArticleId IdType="pubmed">16608849</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>PLoS Genet. 2014 May 01;10(5):e1004318</Citation>
<ArticleIdList><ArticleId IdType="pubmed">24787137</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Ann Neurol. 1997 May;41(5):675-82</Citation>
<ArticleIdList><ArticleId IdType="pubmed">9153531</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Nat Biotechnol. 2014 Mar;32(3):217-9</Citation>
<ArticleIdList><ArticleId IdType="pubmed">24727769</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 2001 Jul 20;276(29):27171-7</Citation>
<ArticleIdList><ArticleId IdType="pubmed">11340071</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Neurol Neurosurg Psychiatry. 2004 Jul;75(7):1061-3</Citation>
<ArticleIdList><ArticleId IdType="pubmed">15201375</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Nat Protoc. 2008;3(6):1101-8</Citation>
<ArticleIdList><ArticleId IdType="pubmed">18546601</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Science. 1996 Mar 8;271(5254):1423-7</Citation>
<ArticleIdList><ArticleId IdType="pubmed">8596916</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Nature. 2012 Nov 15;491(7424):454-7</Citation>
<ArticleIdList><ArticleId IdType="pubmed">23064229</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Hum Mol Genet. 2010 Apr 1;19(7):1221-9</Citation>
<ArticleIdList><ArticleId IdType="pubmed">20053667</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Nat Biotechnol. 2017 Mar;35(3):222-229</Citation>
<ArticleIdList><ArticleId IdType="pubmed">28244992</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Biochemistry. 2010 Nov 2;49(43):9132-9</Citation>
<ArticleIdList><ArticleId IdType="pubmed">20873749</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 2004 Jun 18;279(25):25943-6</Citation>
<ArticleIdList><ArticleId IdType="pubmed">15123683</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Nat Med. 2014 May;20(5):542-7</Citation>
<ArticleIdList><ArticleId IdType="pubmed">24705334</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Ann Neurol. 2016 Mar;79(3):485-95</Citation>
<ArticleIdList><ArticleId IdType="pubmed">26704351</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>RNA Biol. 2015;12(8):771-9</Citation>
<ArticleIdList><ArticleId IdType="pubmed">26259533</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>PLoS One. 2011 Jan 26;6(1):e16199</Citation>
<ArticleIdList><ArticleId IdType="pubmed">21298097</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Hum Mol Genet. 2012 Mar 15;21(6):1230-47</Citation>
<ArticleIdList><ArticleId IdType="pubmed">22113996</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Nucleic Acid Ther. 2018 Feb;28(1):23-33</Citation>
<ArticleIdList><ArticleId IdType="pubmed">29341839</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Sci Rep. 2018 Feb 16;8(1):3189</Citation>
<ArticleIdList><ArticleId IdType="pubmed">29453387</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Genomics. 2015 Aug;106(2):76-82</Citation>
<ArticleIdList><ArticleId IdType="pubmed">26027909</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Biol Chem. 2017 Aug 4;292(31):12744-12753</Citation>
<ArticleIdList><ArticleId IdType="pubmed">28615439</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>PLoS One. 2010 Oct 04;5(10):null</Citation>
<ArticleIdList><ArticleId IdType="pubmed">20957177</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>PLoS One. 2009 Nov 19;4(11):e7914</Citation>
<ArticleIdList><ArticleId IdType="pubmed">19956589</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Neurol Neurochir Pol. 2018 Mar;52(2):129-139</Citation>
<ArticleIdList><ArticleId IdType="pubmed">29499876</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Prog Neurobiol. 2017 Aug;155:194-211</Citation>
<ArticleIdList><ArticleId IdType="pubmed">27887908</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Biochemistry. 2014 Aug 5;53(30):4904-13</Citation>
<ArticleIdList><ArticleId IdType="pubmed">24971490</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Sci Rep. 2016 Jun 06;6:27315</Citation>
<ArticleIdList><ArticleId IdType="pubmed">27265476</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>BMC Med. 2011 Oct 11;9:112</Citation>
<ArticleIdList><ArticleId IdType="pubmed">21985033</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Child Neurol. 2012 Sep;27(9):1133-7</Citation>
<ArticleIdList><ArticleId IdType="pubmed">22752493</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Mol Ther. 2007 Feb;15(2):248-54</Citation>
<ArticleIdList><ArticleId IdType="pubmed">17235301</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Am Chem Soc. 2003 May 21;125(20):6078-84</Citation>
<ArticleIdList><ArticleId IdType="pubmed">12785837</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Nat Neurosci. 2017 Apr;20(4):497-499</Citation>
<ArticleIdList><ArticleId IdType="pubmed">28192393</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Neurol. 2009 Mar;256 Suppl 1:3-8</Citation>
<ArticleIdList><ArticleId IdType="pubmed">19283344</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>J Neurochem. 2013 Aug;126 Suppl 1:43-52</Citation>
<ArticleIdList><ArticleId IdType="pubmed">23859340</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Hum Mol Genet. 2011 Apr 1;20(7):1253-61</Citation>
<ArticleIdList><ArticleId IdType="pubmed">21216878</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>PLoS One. 2011 Mar 11;6(3):e17627</Citation>
<ArticleIdList><ArticleId IdType="pubmed">21412413</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Dis Model Mech. 2018 Jun 25;11(6):</Citation>
<ArticleIdList><ArticleId IdType="pubmed">29794127</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Methods Enzymol. 2002;346:454-65</Citation>
<ArticleIdList><ArticleId IdType="pubmed">11883085</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Neurobiol Dis. 2011 Jun;42(3):496-505</Citation>
<ArticleIdList><ArticleId IdType="pubmed">21397024</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Expert Rev Neurother. 2017 Sep;17(9):895-907</Citation>
<ArticleIdList><ArticleId IdType="pubmed">28724340</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Hum Mol Genet. 2012 Jul 1;21(13):2855-61</Citation>
<ArticleIdList><ArticleId IdType="pubmed">22447512</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Mol Ther. 2017 May 3;25(5):1069-1075</Citation>
<ArticleIdList><ArticleId IdType="pubmed">28366767</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Proc Natl Acad Sci U S A. 2010 Jan 12;107(2):692-7</Citation>
<ArticleIdList><ArticleId IdType="pubmed">20080737</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Hum Mol Genet. 2014 Dec 20;23(25):6848-62</Citation>
<ArticleIdList><ArticleId IdType="pubmed">25113747</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Nucleic Acids Res. 2007;35(16):5351-9</Citation>
<ArticleIdList><ArticleId IdType="pubmed">17693431</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Gene. 2015 Sep 15;569(2):287-93</Citation>
<ArticleIdList><ArticleId IdType="pubmed">26045368</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Nat Rev Drug Discov. 2014 Aug;13(8):622-38</Citation>
<ArticleIdList><ArticleId IdType="pubmed">25011539</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>RNA. 2008 Sep;14(9):1865-73</Citation>
<ArticleIdList><ArticleId IdType="pubmed">18658125</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Mol Ther. 2015 Jun;23(6):1055-1065</Citation>
<ArticleIdList><ArticleId IdType="pubmed">25758173</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Br J Pharmacol. 2014 Apr;171(8):2174-90</Citation>
<ArticleIdList><ArticleId IdType="pubmed">24138602</ArticleId>
</ArticleIdList>
</Reference>
<Reference><Citation>Science. 2017 Dec 22;358(6370):1617-1622</Citation>
<ArticleIdList><ArticleId IdType="pubmed">29192133</ArticleId>
</ArticleIdList>
</Reference>
</ReferenceList>
</PubmedData>
</pubmed>
<affiliations><list><country><li>Italie</li>
<li>Japon</li>
</country>
<region><li>Latium</li>
</region>
<settlement><li>Rome</li>
</settlement>
</list>
<tree><country name="Italie"><noRegion><name sortKey="Bon, Carlotta" sort="Bon, Carlotta" uniqKey="Bon C" first="Carlotta" last="Bon">Carlotta Bon</name>
</noRegion>
<name sortKey="Bon, Carlotta" sort="Bon, Carlotta" uniqKey="Bon C" first="Carlotta" last="Bon">Carlotta Bon</name>
<name sortKey="Cond, Ivano" sort="Cond, Ivano" uniqKey="Cond I" first="Ivano" last="Cond">Ivano Cond</name>
<name sortKey="Cotella, Diego" sort="Cotella, Diego" uniqKey="Cotella D" first="Diego" last="Cotella">Diego Cotella</name>
<name sortKey="Espinoza, Stefano" sort="Espinoza, Stefano" uniqKey="Espinoza S" first="Stefano" last="Espinoza">Stefano Espinoza</name>
<name sortKey="Fimiani, Cristina" sort="Fimiani, Cristina" uniqKey="Fimiani C" first="Cristina" last="Fimiani">Cristina Fimiani</name>
<name sortKey="Fortuni, Silvia" sort="Fortuni, Silvia" uniqKey="Fortuni S" first="Silvia" last="Fortuni">Silvia Fortuni</name>
<name sortKey="Gustincich, Stefano" sort="Gustincich, Stefano" uniqKey="Gustincich S" first="Stefano" last="Gustincich">Stefano Gustincich</name>
<name sortKey="Gustincich, Stefano" sort="Gustincich, Stefano" uniqKey="Gustincich S" first="Stefano" last="Gustincich">Stefano Gustincich</name>
<name sortKey="Luffarelli, Riccardo" sort="Luffarelli, Riccardo" uniqKey="Luffarelli R" first="Riccardo" last="Luffarelli">Riccardo Luffarelli</name>
<name sortKey="Mallamaci, Antonello" sort="Mallamaci, Antonello" uniqKey="Mallamaci A" first="Antonello" last="Mallamaci">Antonello Mallamaci</name>
<name sortKey="Persichetti, Francesca" sort="Persichetti, Francesca" uniqKey="Persichetti F" first="Francesca" last="Persichetti">Francesca Persichetti</name>
<name sortKey="Pierattini, Bianca" sort="Pierattini, Bianca" uniqKey="Pierattini B" first="Bianca" last="Pierattini">Bianca Pierattini</name>
<name sortKey="Pierattini, Bianca" sort="Pierattini, Bianca" uniqKey="Pierattini B" first="Bianca" last="Pierattini">Bianca Pierattini</name>
<name sortKey="Russo, Roberta" sort="Russo, Roberta" uniqKey="Russo R" first="Roberta" last="Russo">Roberta Russo</name>
<name sortKey="Santoro, Claudio" sort="Santoro, Claudio" uniqKey="Santoro C" first="Claudio" last="Santoro">Claudio Santoro</name>
<name sortKey="Santulli, Chiara" sort="Santulli, Chiara" uniqKey="Santulli C" first="Chiara" last="Santulli">Chiara Santulli</name>
<name sortKey="Testi, Roberto" sort="Testi, Roberto" uniqKey="Testi R" first="Roberto" last="Testi">Roberto Testi</name>
<name sortKey="Zucchelli, Silvia" sort="Zucchelli, Silvia" uniqKey="Zucchelli S" first="Silvia" last="Zucchelli">Silvia Zucchelli</name>
<name sortKey="Zucchelli, Silvia" sort="Zucchelli, Silvia" uniqKey="Zucchelli S" first="Silvia" last="Zucchelli">Silvia Zucchelli</name>
</country>
<country name="Japon"><noRegion><name sortKey="Carninci, Piero" sort="Carninci, Piero" uniqKey="Carninci P" first="Piero" last="Carninci">Piero Carninci</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Bois/explor/IronSulferCluV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000210 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000210 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Bois |area= IronSulferCluV1 |flux= Main |étape= Exploration |type= RBID |clé= pubmed:31584077 |texte= SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:31584077" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \ | NlmPubMed2Wicri -a IronSulferCluV1
This area was generated with Dilib version V0.6.38. |