Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease.
Identifieur interne : 000141 ( Main/Exploration ); précédent : 000140; suivant : 000142Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease.
Auteurs : Mafalda Raposo [Portugal] ; Conceição Bettencourt [Royaume-Uni] ; Patrícia Maciel [Portugal] ; Fuying Gao [États-Unis] ; Amanda Ramos [Portugal] ; Nadiya Kazachkova [Portugal] ; João Vasconcelos [Portugal] ; Teresa Kay [Portugal] ; Ana João Rodrigues [Portugal] ; Bruno Bettencourt [Portugal] ; Jácome Bruges-Armas [Portugal] ; Daniel Geschwind [États-Unis] ; Giovanni Coppola [États-Unis] ; Manuela Lima [Portugal]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.
Abstract
Machado-Joseph disease (or spinocerebellar ataxia type 3) is a late-onset polyglutamine neurodegenerative disorder caused by a mutation in the ATXN3 gene, which encodes for the ubiquitously expressed protein ataxin-3. Previous studies on cell and animal models have suggested that mutated ataxin-3 is involved in transcriptional dysregulation. Starting with a whole-transcriptome profiling of peripheral blood samples from patients and controls, we aimed to confirm abnormal expression profiles in Machado-Joseph disease and to identify promising up-regulated genes as potential candidate biomarkers of disease status.
DOI: 10.1002/mds.26238
PubMed: 25914309
Affiliations:
- Portugal, Royaume-Uni, États-Unis
- Angleterre, Grand Londres, Région Nord (Portugal)
- Braga, Londres
- Université du Minho
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Estefania, Lisbon, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Clinical Genetics, Hospital of D. 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wicri:level="1"><nlm:affiliation>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Bruges Armas, Jacome" sort="Bruges Armas, Jacome" uniqKey="Bruges Armas J" first="Jácome" last="Bruges-Armas">Jácome Bruges-Armas</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Geschwind, Daniel" sort="Geschwind, Daniel" uniqKey="Geschwind D" first="Daniel" 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Delgada, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada</wicri:regionArea><wicri:noRegion>Ponta Delgada</wicri:noRegion></affiliation></author><author><name sortKey="Bettencourt, Conceicao" sort="Bettencourt, Conceicao" uniqKey="Bettencourt C" first="Conceição" last="Bettencourt">Conceição Bettencourt</name><affiliation wicri:level="3"><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Maciel, Patricia" sort="Maciel, Patricia" uniqKey="Maciel P" first="Patrícia" last="Maciel">Patrícia Maciel</name><affiliation wicri:level="4"><nlm:affiliation>Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga</wicri:regionArea><orgName type="university">Université du Minho</orgName><placeName><settlement type="city">Braga</settlement><region>Région Nord (Portugal)</region></placeName></affiliation></author><author><name sortKey="Gao, Fuying" sort="Gao, Fuying" uniqKey="Gao F" first="Fuying" last="Gao">Fuying Gao</name><affiliation wicri:level="1"><nlm:affiliation>Departments of Psychiatry and Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Psychiatry and Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles CA</wicri:regionArea><wicri:noRegion>Los Angeles CA</wicri:noRegion></affiliation></author><author><name sortKey="Ramos, Amanda" sort="Ramos, Amanda" uniqKey="Ramos A" first="Amanda" last="Ramos">Amanda Ramos</name><affiliation wicri:level="1"><nlm:affiliation>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada</wicri:regionArea><wicri:noRegion>Ponta Delgada</wicri:noRegion></affiliation></author><author><name sortKey="Kazachkova, Nadiya" sort="Kazachkova, Nadiya" uniqKey="Kazachkova N" first="Nadiya" last="Kazachkova">Nadiya Kazachkova</name><affiliation wicri:level="1"><nlm:affiliation>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada</wicri:regionArea><wicri:noRegion>Ponta Delgada</wicri:noRegion></affiliation></author><author><name sortKey="Vasconcelos, Joao" sort="Vasconcelos, Joao" uniqKey="Vasconcelos J" first="João" last="Vasconcelos">João Vasconcelos</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Hospital do Divino Espírito Santo, Ponta Delgada, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Neurology, Hospital do Divino Espírito Santo, Ponta Delgada</wicri:regionArea><wicri:noRegion>Ponta Delgada</wicri:noRegion></affiliation></author><author><name sortKey="Kay, Teresa" sort="Kay, Teresa" uniqKey="Kay T" first="Teresa" last="Kay">Teresa Kay</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Hospital of D. Estefania, Lisbon, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Clinical Genetics, Hospital of D. Estefania, Lisbon</wicri:regionArea><wicri:noRegion>Lisbon</wicri:noRegion></affiliation></author><author><name sortKey="Rodrigues, Ana Joao" sort="Rodrigues, Ana Joao" uniqKey="Rodrigues A" first="Ana João" last="Rodrigues">Ana João Rodrigues</name><affiliation wicri:level="4"><nlm:affiliation>Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga</wicri:regionArea><orgName type="university">Université du Minho</orgName><placeName><settlement type="city">Braga</settlement><region>Région Nord (Portugal)</region></placeName></affiliation></author><author><name sortKey="Bettencourt, Bruno" sort="Bettencourt, Bruno" uniqKey="Bettencourt B" first="Bruno" last="Bettencourt">Bruno Bettencourt</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Bruges Armas, Jacome" sort="Bruges Armas, Jacome" uniqKey="Bruges Armas J" first="Jácome" last="Bruges-Armas">Jácome Bruges-Armas</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Institute for Molecular and Cell Biology (IBMC), University of Porto, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Geschwind, Daniel" sort="Geschwind, Daniel" uniqKey="Geschwind D" first="Daniel" last="Geschwind">Daniel Geschwind</name><affiliation wicri:level="1"><nlm:affiliation>Departments of Psychiatry and Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Psychiatry and Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles CA</wicri:regionArea><wicri:noRegion>Los Angeles CA</wicri:noRegion></affiliation></author><author><name sortKey="Coppola, Giovanni" sort="Coppola, Giovanni" uniqKey="Coppola G" first="Giovanni" last="Coppola">Giovanni Coppola</name><affiliation wicri:level="1"><nlm:affiliation>Departments of Psychiatry and Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Psychiatry and Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles CA</wicri:regionArea><wicri:noRegion>Los Angeles CA</wicri:noRegion></affiliation></author><author><name sortKey="Lima, Manuela" sort="Lima, Manuela" uniqKey="Lima M" first="Manuela" last="Lima">Manuela Lima</name><affiliation wicri:level="1"><nlm:affiliation>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Centre of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada</wicri:regionArea><wicri:noRegion>Ponta Delgada</wicri:noRegion></affiliation></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Machado-Joseph disease (or spinocerebellar ataxia type 3) is a late-onset polyglutamine neurodegenerative disorder caused by a mutation in the ATXN3 gene, which encodes for the ubiquitously expressed protein ataxin-3. Previous studies on cell and animal models have suggested that mutated ataxin-3 is involved in transcriptional dysregulation. Starting with a whole-transcriptome profiling of peripheral blood samples from patients and controls, we aimed to confirm abnormal expression profiles in Machado-Joseph disease and to identify promising up-regulated genes as potential candidate biomarkers of disease status.</div></front></TEI><affiliations><list><country><li>Portugal</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Région Nord (Portugal)</li></region><settlement><li>Braga</li><li>Londres</li></settlement><orgName><li>Université du Minho</li></orgName></list><tree><country name="Portugal"><noRegion><name sortKey="Raposo, Mafalda" sort="Raposo, Mafalda" uniqKey="Raposo M" first="Mafalda" last="Raposo">Mafalda Raposo</name></noRegion><name sortKey="Bettencourt, Bruno" sort="Bettencourt, Bruno" uniqKey="Bettencourt B" first="Bruno" last="Bettencourt">Bruno Bettencourt</name><name sortKey="Bruges Armas, Jacome" sort="Bruges Armas, Jacome" uniqKey="Bruges Armas J" first="Jácome" last="Bruges-Armas">Jácome Bruges-Armas</name><name sortKey="Kay, Teresa" sort="Kay, Teresa" uniqKey="Kay T" first="Teresa" last="Kay">Teresa Kay</name><name sortKey="Kazachkova, Nadiya" sort="Kazachkova, Nadiya" uniqKey="Kazachkova N" first="Nadiya" last="Kazachkova">Nadiya Kazachkova</name><name sortKey="Lima, Manuela" sort="Lima, Manuela" uniqKey="Lima M" first="Manuela" last="Lima">Manuela Lima</name><name sortKey="Maciel, Patricia" sort="Maciel, Patricia" uniqKey="Maciel P" first="Patrícia" last="Maciel">Patrícia Maciel</name><name sortKey="Ramos, Amanda" sort="Ramos, Amanda" uniqKey="Ramos A" first="Amanda" last="Ramos">Amanda Ramos</name><name sortKey="Rodrigues, Ana Joao" sort="Rodrigues, Ana Joao" uniqKey="Rodrigues A" first="Ana João" last="Rodrigues">Ana João Rodrigues</name><name sortKey="Vasconcelos, Joao" sort="Vasconcelos, Joao" uniqKey="Vasconcelos J" first="João" last="Vasconcelos">João Vasconcelos</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Bettencourt, Conceicao" sort="Bettencourt, Conceicao" uniqKey="Bettencourt C" first="Conceição" last="Bettencourt">Conceição Bettencourt</name></region></country><country name="États-Unis"><noRegion><name sortKey="Gao, Fuying" sort="Gao, Fuying" uniqKey="Gao F" first="Fuying" last="Gao">Fuying Gao</name></noRegion><name sortKey="Coppola, Giovanni" sort="Coppola, Giovanni" uniqKey="Coppola G" first="Giovanni" last="Coppola">Giovanni Coppola</name><name sortKey="Geschwind, Daniel" sort="Geschwind, Daniel" uniqKey="Geschwind D" first="Daniel" last="Geschwind">Daniel Geschwind</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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