A polymorphism in CALHM1 influences Ca2+ homeostasis, Aβlevels, and Alzheimer’s disease risk
Identifieur interne : 001276 ( Pmc/Curation ); précédent : 001275; suivant : 001277A polymorphism in CALHM1 influences Ca2+ homeostasis, Aβlevels, and Alzheimer’s disease risk
Auteurs : Ute Dreses-Werringloer [États-Unis] ; Jean-Charles Lambert [France] ; Valérie Vingtdeux [États-Unis] ; Haitian Zhao [États-Unis] ; Horia Vais [États-Unis] ; Adam Siebert [États-Unis] ; Ankit Jain [États-Unis] ; Jeremy Koppel [États-Unis] ; Anne Rovelet-Lecrux [France] ; Didier Hannequin [France] ; Florence Pasquier [France] ; Daniela Galimberti [Italie] ; Elio Scarpini [Italie] ; David Mann [Royaume-Uni] ; Corinne Lendon [Australie] ; Dominique Campion [France] ; Philippe Amouyel [France] ; Peter Davies [États-Unis] ; J. Kevin Foskett [États-Unis] ; Fabien Campagne [États-Unis] ; Philippe Marambaud [États-Unis]Source :
- Cell [ 0092-8674 ] ; 2008.
Abstract
Alzheimer’s disease (AD) is a genetically heterogeneous disorder characterized by early hippocampal atrophy and cerebral Aβ peptide deposition. Using TissueInfo to screen for genes preferentially expressed in the hippocampus and located in AD linkage regions, we identified a novel gene on 10q24.33 that we call
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DOI: 10.1016/j.cell.2008.05.048
PubMed: 18585350
PubMed Central: 2577842
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wicri:level="1"><nlm:aff id="A2"> INSERM, U744, Institut Pasteur de Lille, Université de Lille II, Lille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> INSERM, U744, Institut Pasteur de Lille, Université de Lille II, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Vingtdeux, Valerie" sort="Vingtdeux, Valerie" uniqKey="Vingtdeux V" first="Valérie" last="Vingtdeux">Valérie Vingtdeux</name><affiliation wicri:level="1"><nlm:aff id="A1"> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY</wicri:regionArea></affiliation></author><author><name sortKey="Zhao, Haitian" sort="Zhao, Haitian" uniqKey="Zhao H" first="Haitian" last="Zhao">Haitian Zhao</name><affiliation wicri:level="1"><nlm:aff id="A1"> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY</wicri:regionArea></affiliation></author><author><name sortKey="Vais, Horia" sort="Vais, Horia" uniqKey="Vais H" first="Horia" last="Vais">Horia Vais</name><affiliation wicri:level="1"><nlm:aff id="A3"> Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA</wicri:regionArea></affiliation></author><author><name sortKey="Siebert, Adam" sort="Siebert, Adam" uniqKey="Siebert A" first="Adam" last="Siebert">Adam Siebert</name><affiliation wicri:level="1"><nlm:aff id="A3"> Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA</wicri:regionArea></affiliation></author><author><name sortKey="Jain, Ankit" sort="Jain, Ankit" uniqKey="Jain A" first="Ankit" last="Jain">Ankit Jain</name><affiliation wicri:level="1"><nlm:aff id="A3"> Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA</wicri:regionArea></affiliation></author><author><name sortKey="Koppel, Jeremy" sort="Koppel, Jeremy" uniqKey="Koppel J" first="Jeremy" last="Koppel">Jeremy Koppel</name><affiliation wicri:level="1"><nlm:aff id="A1"> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY</wicri:regionArea></affiliation></author><author><name sortKey="Rovelet Lecrux, Anne" sort="Rovelet Lecrux, Anne" uniqKey="Rovelet Lecrux A" first="Anne" last="Rovelet-Lecrux">Anne Rovelet-Lecrux</name><affiliation wicri:level="1"><nlm:aff id="A4"> INSERM, U614, Faculté de médecine, Rouen, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> INSERM, U614, Faculté de médecine, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Hannequin, Didier" sort="Hannequin, Didier" uniqKey="Hannequin D" first="Didier" last="Hannequin">Didier Hannequin</name><affiliation wicri:level="1"><nlm:aff id="A4"> INSERM, U614, Faculté de médecine, Rouen, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> INSERM, U614, Faculté de médecine, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Pasquier, Florence" sort="Pasquier, Florence" uniqKey="Pasquier F" first="Florence" last="Pasquier">Florence Pasquier</name><affiliation wicri:level="1"><nlm:aff id="A5"> Department of Neurology, University Hospital, Lille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Department of Neurology, University Hospital, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Galimberti, Daniela" sort="Galimberti, Daniela" uniqKey="Galimberti D" first="Daniela" last="Galimberti">Daniela Galimberti</name><affiliation wicri:level="1"><nlm:aff id="A6"> Department of Neurological Sciences, Dino Ferrari Center, IRCCS Ospedale Maggiore Policlinico, University of Milan, Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea> Department of Neurological Sciences, Dino Ferrari Center, IRCCS Ospedale Maggiore Policlinico, University of Milan, Milan</wicri:regionArea></affiliation></author><author><name sortKey="Scarpini, Elio" sort="Scarpini, Elio" uniqKey="Scarpini E" first="Elio" last="Scarpini">Elio Scarpini</name><affiliation wicri:level="1"><nlm:aff id="A6"> Department of Neurological Sciences, Dino Ferrari Center, IRCCS Ospedale Maggiore Policlinico, University of Milan, Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea> Department of Neurological Sciences, Dino Ferrari Center, IRCCS Ospedale Maggiore Policlinico, University of Milan, Milan</wicri:regionArea></affiliation></author><author><name sortKey="Mann, David" sort="Mann, David" uniqKey="Mann D" first="David" last="Mann">David Mann</name><affiliation wicri:level="1"><nlm:aff id="A7"> Greater Manchester Neurosciences Centre, University of Manchester, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Greater Manchester Neurosciences Centre, University of Manchester, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Lendon, Corinne" sort="Lendon, Corinne" uniqKey="Lendon C" first="Corinne" last="Lendon">Corinne Lendon</name><affiliation wicri:level="1"><nlm:aff id="A8"> Molecular Psychiatry Group, Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Molecular Psychiatry Group, Queensland Institute of Medical Research, Brisbane</wicri:regionArea></affiliation></author><author><name sortKey="Campion, Dominique" sort="Campion, Dominique" uniqKey="Campion D" first="Dominique" last="Campion">Dominique Campion</name><affiliation wicri:level="1"><nlm:aff id="A4"> INSERM, U614, Faculté de médecine, Rouen, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> INSERM, U614, Faculté de médecine, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Amouyel, Philippe" sort="Amouyel, Philippe" uniqKey="Amouyel P" first="Philippe" last="Amouyel">Philippe Amouyel</name><affiliation wicri:level="1"><nlm:aff id="A2"> INSERM, U744, Institut Pasteur de Lille, Université de Lille II, Lille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> INSERM, U744, Institut Pasteur de Lille, Université de Lille II, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Davies, Peter" sort="Davies, Peter" uniqKey="Davies P" first="Peter" last="Davies">Peter Davies</name><affiliation wicri:level="1"><nlm:aff id="A1"> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A9"> Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Department of Pathology, Albert Einstein College of Medicine, Bronx, NY</wicri:regionArea></affiliation></author><author><name sortKey="Foskett, J Kevin" sort="Foskett, J Kevin" uniqKey="Foskett J" first="J. Kevin" last="Foskett">J. Kevin Foskett</name><affiliation wicri:level="1"><nlm:aff id="A3"> Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA</wicri:regionArea></affiliation></author><author><name sortKey="Campagne, Fabien" sort="Campagne, Fabien" uniqKey="Campagne F" first="Fabien" last="Campagne">Fabien Campagne</name><affiliation wicri:level="1"><nlm:aff id="A10"> Department of Physiology and Biophysics, and HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Medical College of Cornell University, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Department of Physiology and Biophysics, and HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Medical College of Cornell University, New York, NY</wicri:regionArea></affiliation></author><author><name sortKey="Marambaud, Philippe" sort="Marambaud, Philippe" uniqKey="Marambaud P" first="Philippe" last="Marambaud">Philippe Marambaud</name><affiliation wicri:level="1"><nlm:aff id="A1"> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A9"> Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Department of Pathology, Albert Einstein College of Medicine, Bronx, NY</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">18585350</idno><idno type="pmc">2577842</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577842</idno><idno type="RBID">PMC:2577842</idno><idno type="doi">10.1016/j.cell.2008.05.048</idno><date when="2008">2008</date><idno type="wicri:Area/Pmc/Corpus">001416</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001416</idno><idno type="wicri:Area/Pmc/Curation">001276</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001276</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A polymorphism in CALHM1 influences Ca<sup>2+</sup> homeostasis, Aβlevels, and Alzheimer’s disease risk</title><author><name sortKey="Dreses Werringloer, Ute" sort="Dreses Werringloer, Ute" uniqKey="Dreses Werringloer U" first="Ute" last="Dreses-Werringloer">Ute Dreses-Werringloer</name><affiliation wicri:level="1"><nlm:aff id="A1"> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY</wicri:regionArea></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 wicri:level="1"><nlm:aff id="A2"> INSERM, U744, Institut Pasteur de Lille, Université de Lille II, Lille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> INSERM, U744, Institut Pasteur de Lille, Université de Lille II, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Vingtdeux, Valerie" sort="Vingtdeux, Valerie" uniqKey="Vingtdeux V" first="Valérie" last="Vingtdeux">Valérie Vingtdeux</name><affiliation wicri:level="1"><nlm:aff id="A1"> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY</wicri:regionArea></affiliation></author><author><name sortKey="Zhao, Haitian" sort="Zhao, Haitian" uniqKey="Zhao H" first="Haitian" last="Zhao">Haitian Zhao</name><affiliation wicri:level="1"><nlm:aff id="A1"> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY</wicri:regionArea></affiliation></author><author><name sortKey="Vais, Horia" sort="Vais, Horia" uniqKey="Vais H" first="Horia" last="Vais">Horia Vais</name><affiliation wicri:level="1"><nlm:aff id="A3"> Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA</wicri:regionArea></affiliation></author><author><name sortKey="Siebert, Adam" sort="Siebert, Adam" uniqKey="Siebert A" first="Adam" last="Siebert">Adam Siebert</name><affiliation wicri:level="1"><nlm:aff id="A3"> Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA</wicri:regionArea></affiliation></author><author><name sortKey="Jain, Ankit" sort="Jain, Ankit" uniqKey="Jain A" first="Ankit" last="Jain">Ankit Jain</name><affiliation wicri:level="1"><nlm:aff id="A3"> Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA</wicri:regionArea></affiliation></author><author><name sortKey="Koppel, Jeremy" sort="Koppel, Jeremy" uniqKey="Koppel J" first="Jeremy" last="Koppel">Jeremy Koppel</name><affiliation wicri:level="1"><nlm:aff id="A1"> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY</wicri:regionArea></affiliation></author><author><name sortKey="Rovelet Lecrux, Anne" sort="Rovelet Lecrux, Anne" uniqKey="Rovelet Lecrux A" first="Anne" last="Rovelet-Lecrux">Anne Rovelet-Lecrux</name><affiliation wicri:level="1"><nlm:aff id="A4"> INSERM, U614, Faculté de médecine, Rouen, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> INSERM, U614, Faculté de médecine, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Hannequin, Didier" sort="Hannequin, Didier" uniqKey="Hannequin D" first="Didier" last="Hannequin">Didier Hannequin</name><affiliation wicri:level="1"><nlm:aff id="A4"> INSERM, U614, Faculté de médecine, Rouen, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> INSERM, U614, Faculté de médecine, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Pasquier, Florence" sort="Pasquier, Florence" uniqKey="Pasquier F" first="Florence" last="Pasquier">Florence Pasquier</name><affiliation wicri:level="1"><nlm:aff id="A5"> Department of Neurology, University Hospital, Lille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Department of Neurology, University Hospital, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Galimberti, Daniela" sort="Galimberti, Daniela" uniqKey="Galimberti D" first="Daniela" last="Galimberti">Daniela Galimberti</name><affiliation wicri:level="1"><nlm:aff id="A6"> Department of Neurological Sciences, Dino Ferrari Center, IRCCS Ospedale Maggiore Policlinico, University of Milan, Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea> Department of Neurological Sciences, Dino Ferrari Center, IRCCS Ospedale Maggiore Policlinico, University of Milan, Milan</wicri:regionArea></affiliation></author><author><name sortKey="Scarpini, Elio" sort="Scarpini, Elio" uniqKey="Scarpini E" first="Elio" last="Scarpini">Elio Scarpini</name><affiliation wicri:level="1"><nlm:aff id="A6"> Department of Neurological Sciences, Dino Ferrari Center, IRCCS Ospedale Maggiore Policlinico, University of Milan, Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea> Department of Neurological Sciences, Dino Ferrari Center, IRCCS Ospedale Maggiore Policlinico, University of Milan, Milan</wicri:regionArea></affiliation></author><author><name sortKey="Mann, David" sort="Mann, David" uniqKey="Mann D" first="David" last="Mann">David Mann</name><affiliation wicri:level="1"><nlm:aff id="A7"> Greater Manchester Neurosciences Centre, University of Manchester, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Greater Manchester Neurosciences Centre, University of Manchester, Manchester</wicri:regionArea></affiliation></author><author><name sortKey="Lendon, Corinne" sort="Lendon, Corinne" uniqKey="Lendon C" first="Corinne" last="Lendon">Corinne Lendon</name><affiliation wicri:level="1"><nlm:aff id="A8"> Molecular Psychiatry Group, Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea> Molecular Psychiatry Group, Queensland Institute of Medical Research, Brisbane</wicri:regionArea></affiliation></author><author><name sortKey="Campion, Dominique" sort="Campion, Dominique" uniqKey="Campion D" first="Dominique" last="Campion">Dominique Campion</name><affiliation wicri:level="1"><nlm:aff id="A4"> INSERM, U614, Faculté de médecine, Rouen, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> INSERM, U614, Faculté de médecine, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Amouyel, Philippe" sort="Amouyel, Philippe" uniqKey="Amouyel P" first="Philippe" last="Amouyel">Philippe Amouyel</name><affiliation wicri:level="1"><nlm:aff id="A2"> INSERM, U744, Institut Pasteur de Lille, Université de Lille II, Lille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> INSERM, U744, Institut Pasteur de Lille, Université de Lille II, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Davies, Peter" sort="Davies, Peter" uniqKey="Davies P" first="Peter" last="Davies">Peter Davies</name><affiliation wicri:level="1"><nlm:aff id="A1"> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A9"> Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Department of Pathology, Albert Einstein College of Medicine, Bronx, NY</wicri:regionArea></affiliation></author><author><name sortKey="Foskett, J Kevin" sort="Foskett, J Kevin" uniqKey="Foskett J" first="J. Kevin" last="Foskett">J. Kevin Foskett</name><affiliation wicri:level="1"><nlm:aff id="A3"> Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA</wicri:regionArea></affiliation></author><author><name sortKey="Campagne, Fabien" sort="Campagne, Fabien" uniqKey="Campagne F" first="Fabien" last="Campagne">Fabien Campagne</name><affiliation wicri:level="1"><nlm:aff id="A10"> Department of Physiology and Biophysics, and HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Medical College of Cornell University, New York, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Department of Physiology and Biophysics, and HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Medical College of Cornell University, New York, NY</wicri:regionArea></affiliation></author><author><name sortKey="Marambaud, Philippe" sort="Marambaud, Philippe" uniqKey="Marambaud P" first="Philippe" last="Marambaud">Philippe Marambaud</name><affiliation wicri:level="1"><nlm:aff id="A1"> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A9"> Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Department of Pathology, Albert Einstein College of Medicine, Bronx, NY</wicri:regionArea></affiliation></author></analytic><series><title level="j">Cell</title><idno type="ISSN">0092-8674</idno><idno type="eISSN">1097-4172</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><title>SUMMARY</title><p id="P3">Alzheimer’s disease (AD) is a genetically heterogeneous disorder characterized by early hippocampal atrophy and cerebral Aβ peptide deposition. Using TissueInfo to screen for genes preferentially expressed in the hippocampus and located in AD linkage regions, we identified a novel gene on 10q24.33 that we call <italic>CALHM1</italic>. We show that <italic>CALHM1</italic> encodes a multipass transmembrane glycoprotein that controls cytosolic Ca<sup>2+</sup> concentrations and Aβ levels. CALHM1 homomultimerizes, shares strong sequence similarities with the selectivity filter of the NMDA receptor, and generates a large Ca<sup>2+</sup> conductance across the plasma membrane. Importantly, we determined that the CALHM1 P86L polymorphism (rs2986017) is significantly associated with AD in independent case-control studies of 3,404 participants (allele-specific OR=1.44, <italic>P</italic>=2×10<sup>−10</sup>). We further found that the P86L polymorphism increases Aβ levels by interfering with CALHM1-mediated Ca<sup>2+</sup> permeability. We propose that <italic>CALHM1</italic> encodes an essential component of a novel cerebral Ca<sup>2+</sup> channel that controls Aβ levels and susceptibility to AD.</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">0413066</journal-id><journal-id journal-id-type="pubmed-jr-id">2830</journal-id><journal-id journal-id-type="nlm-ta">Cell</journal-id><journal-title>Cell</journal-title><issn pub-type="ppub">0092-8674</issn><issn pub-type="epub">1097-4172</issn></journal-meta><article-meta><article-id pub-id-type="pmid">18585350</article-id><article-id pub-id-type="pmc">2577842</article-id><article-id pub-id-type="doi">10.1016/j.cell.2008.05.048</article-id><article-id pub-id-type="manuscript">NIHMS56596</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>A polymorphism in CALHM1 influences Ca<sup>2+</sup> homeostasis, Aβlevels, and Alzheimer’s disease risk</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Dreses-Werringloer</surname><given-names>Ute</given-names></name><xref rid="A1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Lambert</surname><given-names>Jean-Charles</given-names></name><xref rid="A2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Vingtdeux</surname><given-names>Valérie</given-names></name><xref rid="A1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Zhao</surname><given-names>Haitian</given-names></name><xref rid="A1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Vais</surname><given-names>Horia</given-names></name><xref rid="A3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Siebert</surname><given-names>Adam</given-names></name><xref rid="A3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Jain</surname><given-names>Ankit</given-names></name><xref rid="A3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Koppel</surname><given-names>Jeremy</given-names></name><xref rid="A1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Rovelet-Lecrux</surname><given-names>Anne</given-names></name><xref rid="A4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Hannequin</surname><given-names>Didier</given-names></name><xref rid="A4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Pasquier</surname><given-names>Florence</given-names></name><xref rid="A5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Galimberti</surname><given-names>Daniela</given-names></name><xref rid="A6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Scarpini</surname><given-names>Elio</given-names></name><xref rid="A6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Mann</surname><given-names>David</given-names></name><xref rid="A7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Lendon</surname><given-names>Corinne</given-names></name><xref rid="A8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Campion</surname><given-names>Dominique</given-names></name><xref rid="A4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Amouyel</surname><given-names>Philippe</given-names></name><xref rid="A2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Davies</surname><given-names>Peter</given-names></name><xref rid="A1" ref-type="aff">1</xref><xref rid="A9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Foskett</surname><given-names>J. Kevin</given-names></name><xref rid="A3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Campagne</surname><given-names>Fabien</given-names></name><xref rid="A10" ref-type="aff">10</xref><xref rid="FN1" ref-type="author-notes">*</xref></contrib><contrib contrib-type="author"><name><surname>Marambaud</surname><given-names>Philippe</given-names></name><xref rid="A1" ref-type="aff">1</xref><xref rid="A9" ref-type="aff">9</xref><xref rid="FN1" ref-type="author-notes">*</xref></contrib></contrib-group><aff id="A1"><label>1</label> Litwin-Zucker Research Center for the Study of Alzheimer’s Disease, The Feinstein Institute for Medical Research, North Shore-LIJ, Manhasset, NY, USA</aff><aff id="A2"><label>2</label> INSERM, U744, Institut Pasteur de Lille, Université de Lille II, Lille, France</aff><aff id="A3"><label>3</label> Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA</aff><aff id="A4"><label>4</label> INSERM, U614, Faculté de médecine, Rouen, France</aff><aff id="A5"><label>5</label> Department of Neurology, University Hospital, Lille, France</aff><aff id="A6"><label>6</label> Department of Neurological Sciences, Dino Ferrari Center, IRCCS Ospedale Maggiore Policlinico, University of Milan, Milan, Italy</aff><aff id="A7"><label>7</label> Greater Manchester Neurosciences Centre, University of Manchester, Manchester, UK</aff><aff id="A8"><label>8</label> Molecular Psychiatry Group, Queensland Institute of Medical Research, Brisbane, Australia</aff><aff id="A9"><label>9</label> Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, USA</aff><aff id="A10"><label>10</label> Department of Physiology and Biophysics, and HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Medical College of Cornell University, New York, NY, USA</aff><author-notes><corresp id="FN1">*Correspondence: <email>pmaramba@aecom.yu.edu</email> (P.M.), <email>fac2003@med.cornell.edu</email> (F.C.)</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>15</day><month>7</month><year>2008</year></pub-date><pub-date pub-type="ppub"><day>27</day><month>6</month><year>2008</year></pub-date><pub-date pub-type="pmc-release"><day>27</day><month>6</month><year>2009</year></pub-date><volume>133</volume><issue>7</issue><fpage>1149</fpage><lpage>1161</lpage><abstract><title>SUMMARY</title><p id="P3">Alzheimer’s disease (AD) is a genetically heterogeneous disorder characterized by early hippocampal atrophy and cerebral Aβ peptide deposition. Using TissueInfo to screen for genes preferentially expressed in the hippocampus and located in AD linkage regions, we identified a novel gene on 10q24.33 that we call <italic>CALHM1</italic>. We show that <italic>CALHM1</italic> encodes a multipass transmembrane glycoprotein that controls cytosolic Ca<sup>2+</sup> concentrations and Aβ levels. CALHM1 homomultimerizes, shares strong sequence similarities with the selectivity filter of the NMDA receptor, and generates a large Ca<sup>2+</sup> conductance across the plasma membrane. Importantly, we determined that the CALHM1 P86L polymorphism (rs2986017) is significantly associated with AD in independent case-control studies of 3,404 participants (allele-specific OR=1.44, <italic>P</italic>=2×10<sup>−10</sup>). We further found that the P86L polymorphism increases Aβ levels by interfering with CALHM1-mediated Ca<sup>2+</sup> permeability. We propose that <italic>CALHM1</italic> encodes an essential component of a novel cerebral Ca<sup>2+</sup> channel that controls Aβ levels and susceptibility to AD.</p></abstract><contract-num rid="MH1">R01 MH059937-09</contract-num><contract-sponsor id="MH1">National Institute of Mental Health : NIMH</contract-sponsor></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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