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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Is the urea cycle involved in Alzheimer’s disease?</title><author><name sortKey="Hansmannel, Franck" sort="Hansmannel, Franck" uniqKey="Hansmannel F" first="Franck" last="Hansmannel">Franck Hansmannel</name><affiliation><nlm:aff id="A1">INSERM U744, F-59019 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Institut Pasteur de Lille, F-59019, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Université de Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Sillaire, Adeline" sort="Sillaire, Adeline" uniqKey="Sillaire A" first="Adeline" last="Sillaire">Adeline Sillaire</name><affiliation><nlm:aff id="A1">INSERM U744, F-59019 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Institut Pasteur de Lille, F-59019, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Université de Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Kamboh, M Ilyas" sort="Kamboh, M Ilyas" uniqKey="Kamboh M" first="M. Ilyas" last="Kamboh">M. Ilyas Kamboh</name><affiliation><nlm:aff id="A4">Department of Human Genetics and Alzheimer's Disease Research Centre, University of Pittsburgh, USA</nlm:aff></affiliation></author><author><name sortKey="Lendon, Corinne" sort="Lendon, Corinne" uniqKey="Lendon C" first="Corinne" last="Lendon">Corinne Lendon</name><affiliation><nlm:aff id="A5">Molecular Psychiatry Laboratory, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Queensland 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Pasquier, Florence" sort="Pasquier, Florence" uniqKey="Pasquier F" first="Florence" last="Pasquier">Florence Pasquier</name><affiliation><nlm:aff id="A3">Université de Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A6">CHRU de Lille, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Hannequin, Didier" sort="Hannequin, Didier" uniqKey="Hannequin D" first="Didier" last="Hannequin">Didier Hannequin</name><affiliation><nlm:aff id="A7">INSERM U614, Faculté de Médecine-Pharmacie de Rouen, F-76183, Rouen, France</nlm:aff></affiliation></author><author><name sortKey="Laumet, Geoffroy" sort="Laumet, Geoffroy" uniqKey="Laumet G" first="Geoffroy" last="Laumet">Geoffroy Laumet</name><affiliation><nlm:aff id="A1">INSERM U744, F-59019 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Institut Pasteur de Lille, F-59019, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Université de Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Mounier, Anais" sort="Mounier, Anais" uniqKey="Mounier A" first="Anais" last="Mounier">Anais Mounier</name><affiliation><nlm:aff id="A1">INSERM U744, F-59019 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Institut Pasteur de Lille, F-59019, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Université de Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Ayral, Anne Marie" sort="Ayral, Anne Marie" uniqKey="Ayral A" first="Anne-Marie" last="Ayral">Anne-Marie Ayral</name><affiliation><nlm:aff id="A1">INSERM U744, F-59019 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Institut Pasteur de Lille, F-59019, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Université de Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Dekosky, Steven T" sort="Dekosky, Steven T" uniqKey="Dekosky S" first="Steven T." last="Dekosky">Steven T. Dekosky</name><affiliation><nlm:aff id="A8">University of Virginia School of Medicine, Charlottesville, VA, USA</nlm:aff></affiliation></author><author><name sortKey="Hauw, Jean Jacques" sort="Hauw, Jean Jacques" uniqKey="Hauw J" first="Jean-Jacques" last="Hauw">Jean-Jacques Hauw</name><affiliation><nlm:aff id="A9">APHP Laboratoire de Neuropathologie GH Pitié-Salpêtrière, Inserm UMR-S 975, CNRS UMR 7225, UPMC Paris VI UMR 7225, S-975, Centre de Recherche de l'Institut Cerveau-Moelle, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Berr, Claudine" sort="Berr, Claudine" uniqKey="Berr C" first="Claudine" last="Berr">Claudine Berr</name><affiliation><nlm:aff id="A10">INSERM U888; Université Montpellier 1, Hôpital La Colombière, F-34093 Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Mann, David" sort="Mann, David" uniqKey="Mann D" first="David" last="Mann">David Mann</name><affiliation><nlm:aff id="A11">Greater Manchester Neuroscience Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Amouyel, Philippe" sort="Amouyel, Philippe" uniqKey="Amouyel P" first="Philippe" last="Amouyel">Philippe Amouyel</name><affiliation><nlm:aff id="A1">INSERM U744, F-59019 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Institut Pasteur de Lille, F-59019, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Université de Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A6">CHRU de Lille, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Campion, Dominique" sort="Campion, Dominique" uniqKey="Campion D" first="Dominique" last="Campion">Dominique Campion</name><affiliation><nlm:aff id="A7">INSERM U614, Faculté de Médecine-Pharmacie de Rouen, F-76183, Rouen, France</nlm:aff></affiliation></author><author><name sortKey="Lambert, Jean Charles" sort="Lambert, Jean Charles" uniqKey="Lambert J" first="Jean-Charles" last="Lambert">Jean-Charles Lambert</name><affiliation><nlm:aff id="A1">INSERM U744, F-59019 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Institut Pasteur de Lille, F-59019, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Université de Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">20693631</idno><idno type="pmc">2945690</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2945690</idno><idno type="RBID">PMC:2945690</idno><idno type="doi">10.3233/JAD-2010-100630</idno><date when="2010">2010</date><idno type="wicri:Area/Pmc/Corpus">001497</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001497</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Is the urea cycle involved in Alzheimer’s disease?</title><author><name sortKey="Hansmannel, Franck" sort="Hansmannel, Franck" uniqKey="Hansmannel F" first="Franck" last="Hansmannel">Franck Hansmannel</name><affiliation><nlm:aff id="A1">INSERM U744, F-59019 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Institut Pasteur de Lille, F-59019, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Université de Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Sillaire, Adeline" sort="Sillaire, Adeline" uniqKey="Sillaire A" first="Adeline" last="Sillaire">Adeline Sillaire</name><affiliation><nlm:aff id="A1">INSERM U744, F-59019 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Institut Pasteur de Lille, F-59019, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Université de Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Kamboh, M Ilyas" sort="Kamboh, M Ilyas" uniqKey="Kamboh M" first="M. Ilyas" last="Kamboh">M. Ilyas Kamboh</name><affiliation><nlm:aff id="A4">Department of Human Genetics and Alzheimer's Disease Research Centre, University of Pittsburgh, USA</nlm:aff></affiliation></author><author><name sortKey="Lendon, Corinne" sort="Lendon, Corinne" uniqKey="Lendon C" first="Corinne" last="Lendon">Corinne Lendon</name><affiliation><nlm:aff id="A5">Molecular Psychiatry Laboratory, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Queensland 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Pasquier, Florence" sort="Pasquier, Florence" uniqKey="Pasquier F" first="Florence" last="Pasquier">Florence Pasquier</name><affiliation><nlm:aff id="A3">Université de Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A6">CHRU de Lille, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Hannequin, Didier" sort="Hannequin, Didier" uniqKey="Hannequin D" first="Didier" last="Hannequin">Didier Hannequin</name><affiliation><nlm:aff id="A7">INSERM U614, Faculté de Médecine-Pharmacie de Rouen, F-76183, Rouen, France</nlm:aff></affiliation></author><author><name sortKey="Laumet, Geoffroy" sort="Laumet, Geoffroy" uniqKey="Laumet G" first="Geoffroy" last="Laumet">Geoffroy Laumet</name><affiliation><nlm:aff id="A1">INSERM U744, F-59019 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Institut Pasteur de Lille, F-59019, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Université de Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Mounier, Anais" sort="Mounier, Anais" uniqKey="Mounier A" first="Anais" last="Mounier">Anais Mounier</name><affiliation><nlm:aff id="A1">INSERM U744, F-59019 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Institut Pasteur de Lille, F-59019, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Université de Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Ayral, Anne Marie" sort="Ayral, Anne Marie" uniqKey="Ayral A" first="Anne-Marie" last="Ayral">Anne-Marie Ayral</name><affiliation><nlm:aff id="A1">INSERM U744, F-59019 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Institut Pasteur de Lille, F-59019, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Université de Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Dekosky, Steven T" sort="Dekosky, Steven T" uniqKey="Dekosky S" first="Steven T." last="Dekosky">Steven T. Dekosky</name><affiliation><nlm:aff id="A8">University of Virginia School of Medicine, Charlottesville, VA, USA</nlm:aff></affiliation></author><author><name sortKey="Hauw, Jean Jacques" sort="Hauw, Jean Jacques" uniqKey="Hauw J" first="Jean-Jacques" last="Hauw">Jean-Jacques Hauw</name><affiliation><nlm:aff id="A9">APHP Laboratoire de Neuropathologie GH Pitié-Salpêtrière, Inserm UMR-S 975, CNRS UMR 7225, UPMC Paris VI UMR 7225, S-975, Centre de Recherche de l'Institut Cerveau-Moelle, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Berr, Claudine" sort="Berr, Claudine" uniqKey="Berr C" first="Claudine" last="Berr">Claudine Berr</name><affiliation><nlm:aff id="A10">INSERM U888; Université Montpellier 1, Hôpital La Colombière, F-34093 Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Mann, David" sort="Mann, David" uniqKey="Mann D" first="David" last="Mann">David Mann</name><affiliation><nlm:aff id="A11">Greater Manchester Neuroscience Centre, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Amouyel, Philippe" sort="Amouyel, Philippe" uniqKey="Amouyel P" first="Philippe" last="Amouyel">Philippe Amouyel</name><affiliation><nlm:aff id="A1">INSERM U744, F-59019 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Institut Pasteur de Lille, F-59019, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Université de Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A6">CHRU de Lille, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Campion, Dominique" sort="Campion, Dominique" uniqKey="Campion D" first="Dominique" last="Campion">Dominique Campion</name><affiliation><nlm:aff id="A7">INSERM U614, Faculté de Médecine-Pharmacie de Rouen, F-76183, Rouen, France</nlm:aff></affiliation></author><author><name sortKey="Lambert, Jean Charles" sort="Lambert, Jean Charles" uniqKey="Lambert J" first="Jean-Charles" last="Lambert">Jean-Charles Lambert</name><affiliation><nlm:aff id="A1">INSERM U744, F-59019 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Institut Pasteur de Lille, F-59019, Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Université de Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation></author></analytic><series><title level="j">Journal of Alzheimer's disease : JAD</title><idno type="ISSN">1387-2877</idno><idno type="eISSN">1875-8908</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Since previous observations indicated that the urea cycle may have a role in the Alzheimer’s disease (AD) process, we set out to quantify the expression of each gene involved in the urea cycle in control and AD brains and establish whether these genes could be genetic determinants of AD. We first confirmed that all the urea cycle enzyme genes are expressed in the AD brain. The expression of arginase 2 was greater in the AD brain than in the control brain. The presence of the rare arginase 2 allele rs742869 was associated with an increase in the risk of AD in men and with an earlier age at onset for both genders. None of the other genes in the pathway appeared to be differentially expressed in the AD brain or act as genetic determinants of the disease.</p></div></front></TEI><pmc article-type="research-article" xml:lang="EN"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9814863</journal-id><journal-id journal-id-type="pubmed-jr-id">21942</journal-id><journal-id journal-id-type="nlm-ta">J Alzheimers Dis</journal-id><journal-title>Journal of Alzheimer's disease : JAD</journal-title><issn pub-type="ppub">1387-2877</issn><issn pub-type="epub">1875-8908</issn></journal-meta><article-meta><article-id pub-id-type="pmid">20693631</article-id><article-id pub-id-type="pmc">2945690</article-id><article-id pub-id-type="doi">10.3233/JAD-2010-100630</article-id><article-id pub-id-type="manuscript">NIHMS203628</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Is the urea cycle involved in Alzheimer’s disease?</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Hansmannel</surname><given-names>Franck</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Sillaire</surname><given-names>Adeline</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Kamboh</surname><given-names>M. Ilyas</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Lendon</surname><given-names>Corinne</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Pasquier</surname><given-names>Florence</given-names></name><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Hannequin</surname><given-names>Didier</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Laumet</surname><given-names>Geoffroy</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Mounier</surname><given-names>Anais</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Ayral</surname><given-names>Anne-Marie</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>DeKosky</surname><given-names>Steven T.</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Hauw</surname><given-names>Jean-Jacques</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Berr</surname><given-names>Claudine</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Mann</surname><given-names>David</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Amouyel</surname><given-names>Philippe</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Campion</surname><given-names>Dominique</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Lambert</surname><given-names>Jean-Charles</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref><xref ref-type="corresp" rid="cor1">*</xref></contrib></contrib-group><aff id="A1"><label>1</label>INSERM U744, F-59019 Lille, France</aff><aff id="A2"><label>2</label>Institut Pasteur de Lille, F-59019, Lille, France</aff><aff id="A3"><label>3</label>Université de Lille Nord de France, F-59000 Lille, France</aff><aff id="A4"><label>4</label>Department of Human Genetics and Alzheimer's Disease Research Centre, University of Pittsburgh, USA</aff><aff id="A5"><label>5</label>Molecular Psychiatry Laboratory, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Queensland 4029, Australia</aff><aff id="A6"><label>6</label>CHRU de Lille, F-59000 Lille, France</aff><aff id="A7"><label>7</label>INSERM U614, Faculté de Médecine-Pharmacie de Rouen, F-76183, Rouen, France</aff><aff id="A8"><label>8</label>University of Virginia School of Medicine, Charlottesville, VA, USA</aff><aff id="A9"><label>9</label>APHP Laboratoire de Neuropathologie GH Pitié-Salpêtrière, Inserm UMR-S 975, CNRS UMR 7225, UPMC Paris VI UMR 7225, S-975, Centre de Recherche de l'Institut Cerveau-Moelle, Paris, France</aff><aff id="A10"><label>10</label>INSERM U888; Université Montpellier 1, Hôpital La Colombière, F-34093 Montpellier, France</aff><aff id="A11"><label>11</label>Greater Manchester Neuroscience Centre, University of Manchester, Manchester, UK</aff><author-notes><corresp id="cor1"><bold>Address correspondence to:</bold> Jean-Charles Lambert, Unité INSERM 744, Institut Pasteur de Lille, BP 245,1, rue du professeur Calmette, F-59019 Lille cedex, France, Tel.: +33 (0)3 20 87 73 91, Fax: +33 (0)3 20 87 78 94, <email>jean-charles.lambert@pasteur-lille.fr</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>10</day><month>5</month><year>2010</year></pub-date><pub-date pub-type="ppub"><year>2010</year></pub-date><pub-date pub-type="pmc-release"><day>1</day><month>1</month><year>2011</year></pub-date><volume>21</volume><issue>3</issue><fpage>1013</fpage><lpage>1021</lpage><abstract><p id="P1">Since previous observations indicated that the urea cycle may have a role in the Alzheimer’s disease (AD) process, we set out to quantify the expression of each gene involved in the urea cycle in control and AD brains and establish whether these genes could be genetic determinants of AD. We first confirmed that all the urea cycle enzyme genes are expressed in the AD brain. The expression of arginase 2 was greater in the AD brain than in the control brain. The presence of the rare arginase 2 allele rs742869 was associated with an increase in the risk of AD in men and with an earlier age at onset for both genders. None of the other genes in the pathway appeared to be differentially expressed in the AD brain or act as genetic determinants of the disease.</p></abstract><kwd-group><kwd>Alzheimer's disease</kwd><kwd>urea cycle</kwd><kwd>citrulline NO cycle</kwd><kwd>ammonium</kwd><kwd>nitric oxide</kwd><kwd>polyamines</kwd><kwd>arginase</kwd><kwd>association study</kwd></kwd-group><contract-num rid="AG1">R01 AG030653-02
||AG</contract-num><contract-num rid="AG1">P50 AG005133-219007
||AG</contract-num><contract-sponsor id="AG1">National Institute on Aging : NIA</contract-sponsor></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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