PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
Identifieur interne : 000622 ( Ncbi/Merge ); précédent : 000621; suivant : 000623PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
Auteurs : Neil V. Morgan [Royaume-Uni] ; Shawn K. Westaway [États-Unis] ; Jenny E V. Morton [Royaume-Uni] ; Allison Gregory [États-Unis] ; Paul Gissen [Royaume-Uni] ; Scott Sonek [États-Unis] ; Hakan Cangul [Royaume-Uni, Turquie] ; Jason Coryell [États-Unis] ; Natalie Canham [Royaume-Uni] ; Nardo Nardocci [Italie] ; Giovanna Zorzi [Italie] ; Shanaz Pasha [Royaume-Uni] ; Diana Rodriguez [France] ; Isabelle Desguerre [France] ; Amar Mubaidin [Jordanie] ; Enrico Bertini [Italie] ; Richard C. Trembath [Royaume-Uni] ; Alessandro Simonati [Italie] ; Carolyn Schanen [États-Unis] ; Colin A. Johnson [Royaume-Uni] ; Barbara Levinson [États-Unis] ; C Geoffrey Woods [Royaume-Uni] ; Beth Wilmot [États-Unis] ; Patricia Kramer [États-Unis] ; Jane Gitschier [États-Unis] ; Eamonn R. Maher [Royaume-Uni] ; Susan J. Hayflick [États-Unis]Source :
- Nature genetics [ 1061-4036 ] ; 2006.
Abstract
Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis.
Url:
DOI: 10.1038/ng1826
PubMed: 16783378
PubMed Central: 2117328
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PMC:2117328Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><italic>PLA2G6,</italic>
encoding a phospholipase A<sub>2</sub>
, is mutated in neurodegenerative disorders with high brain iron</title>
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<affiliation wicri:level="1"><nlm:aff id="A4"> Department of Medical Genetics, Uludag University School of Medicine, Bursa 16036, Turkey</nlm:aff>
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<author><name sortKey="Coryell, Jason" sort="Coryell, Jason" uniqKey="Coryell J" first="Jason" last="Coryell">Jason Coryell</name>
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<author><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name>
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<author><name sortKey="Zorzi, Giovanna" sort="Zorzi, Giovanna" uniqKey="Zorzi G" first="Giovanna" last="Zorzi">Giovanna Zorzi</name>
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<author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
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<author><name sortKey="Mubaidin, Amar" sort="Mubaidin, Amar" uniqKey="Mubaidin A" first="Amar" last="Mubaidin">Amar Mubaidin</name>
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<author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name>
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<author><name sortKey="Schanen, Carolyn" sort="Schanen, Carolyn" uniqKey="Schanen C" first="Carolyn" last="Schanen">Carolyn Schanen</name>
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<author><name sortKey="Johnson, Colin A" sort="Johnson, Colin A" uniqKey="Johnson C" first="Colin A" last="Johnson">Colin A. Johnson</name>
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<author><name sortKey="Woods, C Geoffrey" sort="Woods, C Geoffrey" uniqKey="Woods C" first="C Geoffrey" last="Woods">C Geoffrey Woods</name>
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<author><name sortKey="Wilmot, Beth" sort="Wilmot, Beth" uniqKey="Wilmot B" first="Beth" last="Wilmot">Beth Wilmot</name>
<affiliation wicri:level="4"><nlm:aff id="A2"> Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA 97239</nlm:aff>
<orgName type="university">Université des sciences et de la médecine de l'Oregon</orgName>
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<author><name sortKey="Kramer, Patricia" sort="Kramer, Patricia" uniqKey="Kramer P" first="Patricia" last="Kramer">Patricia Kramer</name>
<affiliation wicri:level="4"><nlm:aff id="A2"> Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA 97239</nlm:aff>
<orgName type="university">Université des sciences et de la médecine de l'Oregon</orgName>
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<wicri:regionArea> Department of Neurology, Oregon Health & Science University, Portland, Oregon 97239</wicri:regionArea>
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<author><name sortKey="Gitschier, Jane" sort="Gitschier, Jane" uniqKey="Gitschier J" first="Jane" last="Gitschier">Jane Gitschier</name>
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<wicri:regionArea> Department of Medicine, University of California, San Francisco, California 94143</wicri:regionArea>
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<affiliation><nlm:aff id="A16"> Howard Hughes Medical Institute.</nlm:aff>
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<author><name sortKey="Maher, Eamonn R" sort="Maher, Eamonn R" uniqKey="Maher E" first="Eamonn R" last="Maher">Eamonn R. Maher</name>
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<author><name sortKey="Hayflick, Susan J" sort="Hayflick, Susan J" uniqKey="Hayflick S" first="Susan J" last="Hayflick">Susan J. Hayflick</name>
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<affiliation wicri:level="4"><nlm:aff id="A15"> Department of Neurology, Oregon Health & Science University, Portland, Oregon 97239, USA</nlm:aff>
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<affiliation wicri:level="4"><nlm:aff id="A17"> Department of Pediatrics, Oregon Health & Science University, Portland, Oregon 97239, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Department of Pediatrics, Oregon Health & Science University, Portland, Oregon 97239</wicri:regionArea>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>PLA2G6,</italic>
encoding a phospholipase A<sub>2</sub>
, is mutated in neurodegenerative disorders with high brain iron</title>
<author><name sortKey="Morgan, Neil V" sort="Morgan, Neil V" uniqKey="Morgan N" first="Neil V" last="Morgan">Neil V. Morgan</name>
<affiliation wicri:level="1"><nlm:aff id="A1"> Section of Medical & Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Section of Medical & Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT</wicri:regionArea>
<wicri:noRegion>Birmingham B15 2TT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Westaway, Shawn K" sort="Westaway, Shawn K" uniqKey="Westaway S" first="Shawn K" last="Westaway">Shawn K. Westaway</name>
<affiliation wicri:level="4"><nlm:aff id="A2"> Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA 97239</nlm:aff>
<orgName type="university">Université des sciences et de la médecine de l'Oregon</orgName>
<country>États-Unis</country>
<placeName><settlement type="city">Portland</settlement>
<region type="state">Oregon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Morton, Jenny E V" sort="Morton, Jenny E V" uniqKey="Morton J" first="Jenny E V" last="Morton">Jenny E V. Morton</name>
<affiliation wicri:level="3"><nlm:aff id="A3"> West Midlands Regional Genetics Service, Birmingham Women’s Hospital, Birmingham, UK B15 2TG</nlm:aff>
<country>Royaume-Uni</country>
<wicri:regionArea> West Midlands Regional Genetics Service, Birmingham Women’s Hospital, Birmingham</wicri:regionArea>
<placeName><settlement type="city">Birmingham</settlement>
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<region type="région" nuts="1">Midlands de l'Ouest</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gregory, Allison" sort="Gregory, Allison" uniqKey="Gregory A" first="Allison" last="Gregory">Allison Gregory</name>
<affiliation wicri:level="4"><nlm:aff id="A2"> Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA 97239</nlm:aff>
<orgName type="university">Université des sciences et de la médecine de l'Oregon</orgName>
<country>États-Unis</country>
<placeName><settlement type="city">Portland</settlement>
<region type="state">Oregon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gissen, Paul" sort="Gissen, Paul" uniqKey="Gissen P" first="Paul" last="Gissen">Paul Gissen</name>
<affiliation wicri:level="1"><nlm:aff id="A1"> Section of Medical & Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Section of Medical & Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT</wicri:regionArea>
<wicri:noRegion>Birmingham B15 2TT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sonek, Scott" sort="Sonek, Scott" uniqKey="Sonek S" first="Scott" last="Sonek">Scott Sonek</name>
<affiliation wicri:level="4"><nlm:aff id="A2"> Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA 97239</nlm:aff>
<orgName type="university">Université des sciences et de la médecine de l'Oregon</orgName>
<country>États-Unis</country>
<placeName><settlement type="city">Portland</settlement>
<region type="state">Oregon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cangul, Hakan" sort="Cangul, Hakan" uniqKey="Cangul H" first="Hakan" last="Cangul">Hakan Cangul</name>
<affiliation wicri:level="1"><nlm:aff id="A1"> Section of Medical & Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Section of Medical & Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT</wicri:regionArea>
<wicri:noRegion>Birmingham B15 2TT</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A4"> Department of Medical Genetics, Uludag University School of Medicine, Bursa 16036, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea> Department of Medical Genetics, Uludag University School of Medicine, Bursa 16036</wicri:regionArea>
<wicri:noRegion>Bursa 16036</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Coryell, Jason" sort="Coryell, Jason" uniqKey="Coryell J" first="Jason" last="Coryell">Jason Coryell</name>
<affiliation wicri:level="4"><nlm:aff id="A2"> Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA 97239</nlm:aff>
<orgName type="university">Université des sciences et de la médecine de l'Oregon</orgName>
<country>États-Unis</country>
<placeName><settlement type="city">Portland</settlement>
<region type="state">Oregon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Canham, Natalie" sort="Canham, Natalie" uniqKey="Canham N" first="Natalie" last="Canham">Natalie Canham</name>
<affiliation wicri:level="3"><nlm:aff id="A3"> West Midlands Regional Genetics Service, Birmingham Women’s Hospital, Birmingham, UK B15 2TG</nlm:aff>
<country>Royaume-Uni</country>
<wicri:regionArea> West Midlands Regional Genetics Service, Birmingham Women’s Hospital, Birmingham</wicri:regionArea>
<placeName><settlement type="city">Birmingham</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Midlands de l'Ouest</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name>
<affiliation wicri:level="1"><nlm:aff id="A5"> Department of Child Neurology, Istituto Nazionale Neurologico “Carlo Besta”, Milan 20133, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea> Department of Child Neurology, Istituto Nazionale Neurologico “Carlo Besta”, Milan 20133</wicri:regionArea>
<placeName><settlement type="city">Milan</settlement>
<region nuts="2">Lombardie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zorzi, Giovanna" sort="Zorzi, Giovanna" uniqKey="Zorzi G" first="Giovanna" last="Zorzi">Giovanna Zorzi</name>
<affiliation wicri:level="1"><nlm:aff id="A5"> Department of Child Neurology, Istituto Nazionale Neurologico “Carlo Besta”, Milan 20133, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea> Department of Child Neurology, Istituto Nazionale Neurologico “Carlo Besta”, Milan 20133</wicri:regionArea>
<placeName><settlement type="city">Milan</settlement>
<region nuts="2">Lombardie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pasha, Shanaz" sort="Pasha, Shanaz" uniqKey="Pasha S" first="Shanaz" last="Pasha">Shanaz Pasha</name>
<affiliation wicri:level="1"><nlm:aff id="A1"> Section of Medical & Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Section of Medical & Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT</wicri:regionArea>
<wicri:noRegion>Birmingham B15 2TT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
<affiliation wicri:level="3"><nlm:aff id="A6"> Department of Pediatric Neurology, Hôpital Armand Trousseau, Paris 75571, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea> Department of Pediatric Neurology, Hôpital Armand Trousseau, Paris 75571</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name>
<affiliation wicri:level="3"><nlm:aff id="A7"> Department of Pediatric Neurology, Hôpital Necker Enfants Malades, Paris 75270, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea> Department of Pediatric Neurology, Hôpital Necker Enfants Malades, Paris 75270</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mubaidin, Amar" sort="Mubaidin, Amar" uniqKey="Mubaidin A" first="Amar" last="Mubaidin">Amar Mubaidin</name>
<affiliation wicri:level="1"><nlm:aff id="A8"> Neurology Department, King Hussein Medical Centre, Amman 11947, Jordan</nlm:aff>
<country xml:lang="fr">Jordanie</country>
<wicri:regionArea> Neurology Department, King Hussein Medical Centre, Amman 11947</wicri:regionArea>
<wicri:noRegion>Amman 11947</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name>
<affiliation wicri:level="1"><nlm:aff id="A9"> Unit of Molecular Medicine, Bambino Gesù Hospital, Rome 00165, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea> Unit of Molecular Medicine, Bambino Gesù Hospital, Rome 00165</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Trembath, Richard C" sort="Trembath, Richard C" uniqKey="Trembath R" first="Richard C" last="Trembath">Richard C. Trembath</name>
<affiliation wicri:level="1"><nlm:aff id="A10"> Division of Genetics and Molecular Medicine, Kings College London School of Medicine, Guys Hospital, London SE1 9RT, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Division of Genetics and Molecular Medicine, Kings College London School of Medicine, Guys Hospital, London SE1 9RT</wicri:regionArea>
<wicri:noRegion>London SE1 9RT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Simonati, Alessandro" sort="Simonati, Alessandro" uniqKey="Simonati A" first="Alessandro" last="Simonati">Alessandro Simonati</name>
<affiliation wicri:level="1"><nlm:aff id="A11"> Department of Neurological and Visual Sciences, University of Verona School of Medicine, Verona 37129, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea> Department of Neurological and Visual Sciences, University of Verona School of Medicine, Verona 37129</wicri:regionArea>
<wicri:noRegion>Verona 37129</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schanen, Carolyn" sort="Schanen, Carolyn" uniqKey="Schanen C" first="Carolyn" last="Schanen">Carolyn Schanen</name>
<affiliation wicri:level="1"><nlm:aff id="A12"> Nemours Research Programs, A.I. duPont Hospital for Children, Wilmington, Delaware 19899, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Nemours Research Programs, A.I. duPont Hospital for Children, Wilmington, Delaware 19899</wicri:regionArea>
<wicri:noRegion>Delaware 19899</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Johnson, Colin A" sort="Johnson, Colin A" uniqKey="Johnson C" first="Colin A" last="Johnson">Colin A. Johnson</name>
<affiliation wicri:level="1"><nlm:aff id="A1"> Section of Medical & Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Section of Medical & Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT</wicri:regionArea>
<wicri:noRegion>Birmingham B15 2TT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Levinson, Barbara" sort="Levinson, Barbara" uniqKey="Levinson B" first="Barbara" last="Levinson">Barbara Levinson</name>
<affiliation wicri:level="1"><nlm:aff id="A13"> Department of Medicine, University of California, San Francisco, California 94143, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Department of Medicine, University of California, San Francisco, California 94143</wicri:regionArea>
<wicri:noRegion>California 94143</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Woods, C Geoffrey" sort="Woods, C Geoffrey" uniqKey="Woods C" first="C Geoffrey" last="Woods">C Geoffrey Woods</name>
<affiliation wicri:level="4"><nlm:aff id="A14"> Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 1TN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 1TN</wicri:regionArea>
<orgName type="university">Université de Cambridge</orgName>
<placeName><settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wilmot, Beth" sort="Wilmot, Beth" uniqKey="Wilmot B" first="Beth" last="Wilmot">Beth Wilmot</name>
<affiliation wicri:level="4"><nlm:aff id="A2"> Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA 97239</nlm:aff>
<orgName type="university">Université des sciences et de la médecine de l'Oregon</orgName>
<country>États-Unis</country>
<placeName><settlement type="city">Portland</settlement>
<region type="state">Oregon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kramer, Patricia" sort="Kramer, Patricia" uniqKey="Kramer P" first="Patricia" last="Kramer">Patricia Kramer</name>
<affiliation wicri:level="4"><nlm:aff id="A2"> Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA 97239</nlm:aff>
<orgName type="university">Université des sciences et de la médecine de l'Oregon</orgName>
<country>États-Unis</country>
<placeName><settlement type="city">Portland</settlement>
<region type="state">Oregon</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A15"> Department of Neurology, Oregon Health & Science University, Portland, Oregon 97239, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Department of Neurology, Oregon Health & Science University, Portland, Oregon 97239</wicri:regionArea>
<orgName type="university">Université des sciences et de la médecine de l'Oregon</orgName>
<placeName><settlement type="city">Portland</settlement>
<region type="state">Oregon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gitschier, Jane" sort="Gitschier, Jane" uniqKey="Gitschier J" first="Jane" last="Gitschier">Jane Gitschier</name>
<affiliation wicri:level="1"><nlm:aff id="A13"> Department of Medicine, University of California, San Francisco, California 94143, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Department of Medicine, University of California, San Francisco, California 94143</wicri:regionArea>
<wicri:noRegion>California 94143</wicri:noRegion>
</affiliation>
<affiliation><nlm:aff id="A16"> Howard Hughes Medical Institute.</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Maher, Eamonn R" sort="Maher, Eamonn R" uniqKey="Maher E" first="Eamonn R" last="Maher">Eamonn R. Maher</name>
<affiliation wicri:level="1"><nlm:aff id="A1"> Section of Medical & Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Section of Medical & Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT</wicri:regionArea>
<wicri:noRegion>Birmingham B15 2TT</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A3"> West Midlands Regional Genetics Service, Birmingham Women’s Hospital, Birmingham, UK B15 2TG</nlm:aff>
<country>Royaume-Uni</country>
<wicri:regionArea> West Midlands Regional Genetics Service, Birmingham Women’s Hospital, Birmingham</wicri:regionArea>
<placeName><settlement type="city">Birmingham</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Midlands de l'Ouest</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hayflick, Susan J" sort="Hayflick, Susan J" uniqKey="Hayflick S" first="Susan J" last="Hayflick">Susan J. Hayflick</name>
<affiliation wicri:level="4"><nlm:aff id="A2"> Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA 97239</nlm:aff>
<orgName type="university">Université des sciences et de la médecine de l'Oregon</orgName>
<country>États-Unis</country>
<placeName><settlement type="city">Portland</settlement>
<region type="state">Oregon</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A15"> Department of Neurology, Oregon Health & Science University, Portland, Oregon 97239, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Department of Neurology, Oregon Health & Science University, Portland, Oregon 97239</wicri:regionArea>
<orgName type="university">Université des sciences et de la médecine de l'Oregon</orgName>
<placeName><settlement type="city">Portland</settlement>
<region type="state">Oregon</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A17"> Department of Pediatrics, Oregon Health & Science University, Portland, Oregon 97239, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Department of Pediatrics, Oregon Health & Science University, Portland, Oregon 97239</wicri:regionArea>
<orgName type="university">Université des sciences et de la médecine de l'Oregon</orgName>
<placeName><settlement type="city">Portland</settlement>
<region type="state">Oregon</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Nature genetics</title>
<idno type="ISSN">1061-4036</idno>
<idno type="eISSN">1546-1718</idno>
<imprint><date when="2006">2006</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P1">Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A<sub>2</sub>
, in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article"><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">9216904</journal-id>
<journal-id journal-id-type="pubmed-jr-id">2419</journal-id>
<journal-id journal-id-type="nlm-ta">Nat Genet</journal-id>
<journal-title>Nature genetics</journal-title>
<issn pub-type="ppub">1061-4036</issn>
<issn pub-type="epub">1546-1718</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">16783378</article-id>
<article-id pub-id-type="pmc">2117328</article-id>
<article-id pub-id-type="doi">10.1038/ng1826</article-id>
<article-id pub-id-type="manuscript">NIHMS33898</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title><italic>PLA2G6,</italic>
encoding a phospholipase A<sub>2</sub>
, is mutated in neurodegenerative disorders with high brain iron</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Morgan</surname>
<given-names>Neil V</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
<xref rid="FN2" ref-type="author-notes">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Westaway</surname>
<given-names>Shawn K</given-names>
</name>
<xref rid="A2" ref-type="aff">2</xref>
<xref rid="FN2" ref-type="author-notes">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Morton</surname>
<given-names>Jenny E V</given-names>
</name>
<xref rid="A3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gregory</surname>
<given-names>Allison</given-names>
</name>
<xref rid="A2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gissen</surname>
<given-names>Paul</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Sonek</surname>
<given-names>Scott</given-names>
</name>
<xref rid="A2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cangul</surname>
<given-names>Hakan</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
<xref rid="A4" ref-type="aff">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Coryell</surname>
<given-names>Jason</given-names>
</name>
<xref rid="A2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Canham</surname>
<given-names>Natalie</given-names>
</name>
<xref rid="A3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nardocci</surname>
<given-names>Nardo</given-names>
</name>
<xref rid="A5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zorzi</surname>
<given-names>Giovanna</given-names>
</name>
<xref rid="A5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pasha</surname>
<given-names>Shanaz</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rodriguez</surname>
<given-names>Diana</given-names>
</name>
<xref rid="A6" ref-type="aff">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Desguerre</surname>
<given-names>Isabelle</given-names>
</name>
<xref rid="A7" ref-type="aff">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mubaidin</surname>
<given-names>Amar</given-names>
</name>
<xref rid="A8" ref-type="aff">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bertini</surname>
<given-names>Enrico</given-names>
</name>
<xref rid="A9" ref-type="aff">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Trembath</surname>
<given-names>Richard C</given-names>
</name>
<xref rid="A10" ref-type="aff">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Simonati</surname>
<given-names>Alessandro</given-names>
</name>
<xref rid="A11" ref-type="aff">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Schanen</surname>
<given-names>Carolyn</given-names>
</name>
<xref rid="A12" ref-type="aff">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Johnson</surname>
<given-names>Colin A</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Levinson</surname>
<given-names>Barbara</given-names>
</name>
<xref rid="A13" ref-type="aff">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Woods</surname>
<given-names>C Geoffrey</given-names>
</name>
<xref rid="A14" ref-type="aff">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wilmot</surname>
<given-names>Beth</given-names>
</name>
<xref rid="A2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kramer</surname>
<given-names>Patricia</given-names>
</name>
<xref rid="A2" ref-type="aff">2</xref>
<xref rid="A15" ref-type="aff">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gitschier</surname>
<given-names>Jane</given-names>
</name>
<xref rid="A13" ref-type="aff">13</xref>
<xref rid="A16" ref-type="aff">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Maher</surname>
<given-names>Eamonn R</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
<xref rid="A3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hayflick</surname>
<given-names>Susan J</given-names>
</name>
<xref rid="A2" ref-type="aff">2</xref>
<xref rid="A15" ref-type="aff">15</xref>
<xref rid="A17" ref-type="aff">17</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Section of Medical & Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT, UK</aff>
<aff id="A2"><label>2</label>
Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA 97239</aff>
<aff id="A3"><label>3</label>
West Midlands Regional Genetics Service, Birmingham Women’s Hospital, Birmingham, UK B15 2TG</aff>
<aff id="A4"><label>4</label>
Department of Medical Genetics, Uludag University School of Medicine, Bursa 16036, Turkey</aff>
<aff id="A5"><label>5</label>
Department of Child Neurology, Istituto Nazionale Neurologico “Carlo Besta”, Milan 20133, Italy</aff>
<aff id="A6"><label>6</label>
Department of Pediatric Neurology, Hôpital Armand Trousseau, Paris 75571, France</aff>
<aff id="A7"><label>7</label>
Department of Pediatric Neurology, Hôpital Necker Enfants Malades, Paris 75270, France</aff>
<aff id="A8"><label>8</label>
Neurology Department, King Hussein Medical Centre, Amman 11947, Jordan</aff>
<aff id="A9"><label>9</label>
Unit of Molecular Medicine, Bambino Gesù Hospital, Rome 00165, Italy</aff>
<aff id="A10"><label>10</label>
Division of Genetics and Molecular Medicine, Kings College London School of Medicine, Guys Hospital, London SE1 9RT, UK</aff>
<aff id="A11"><label>11</label>
Department of Neurological and Visual Sciences, University of Verona School of Medicine, Verona 37129, Italy</aff>
<aff id="A12"><label>12</label>
Nemours Research Programs, A.I. duPont Hospital for Children, Wilmington, Delaware 19899, USA</aff>
<aff id="A13"><label>13</label>
Department of Medicine, University of California, San Francisco, California 94143, USA</aff>
<aff id="A14"><label>14</label>
Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 1TN, UK</aff>
<aff id="A15"><label>15</label>
Department of Neurology, Oregon Health & Science University, Portland, Oregon 97239, USA</aff>
<aff id="A16"><label>16</label>
Howard Hughes Medical Institute.</aff>
<aff id="A17"><label>17</label>
Department of Pediatrics, Oregon Health & Science University, Portland, Oregon 97239, USA</aff>
<author-notes><corresp id="FN1">Correspondence should be addressed to S.J.H. (<email>hayflick@ohsu.edu</email>
).</corresp>
<fn id="FN2" fn-type="equal"><label>18</label>
<p>These individuals contributed equally to this work.</p>
</fn>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>15</day>
<month>11</month>
<year>2007</year>
</pub-date>
<pub-date pub-type="epub"><day>18</day>
<month>6</month>
<year>2006</year>
</pub-date>
<pub-date pub-type="ppub"><month>7</month>
<year>2006</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>5</day>
<month>12</month>
<year>2007</year>
</pub-date>
<volume>38</volume>
<issue>7</issue>
<fpage>752</fpage>
<lpage>754</lpage>
<related-article journal-id-type="nlm-ta" journal-id="Nat Genet" related-article-type="correction-forward" vol="38" page="957" id="N0x1b93bc0N0x2663df0" ext-link-type="pmc"></related-article>
<abstract><p id="P1">Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A<sub>2</sub>
, in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis.</p>
</abstract>
<contract-num rid="HD1">R01 HD050832-01A1</contract-num>
<contract-num rid="EY1">R01 EY012353-07</contract-num>
<contract-sponsor id="HD1">National Institute of Child Health & Human Development : NICHD</contract-sponsor>
<contract-sponsor id="EY1">National Eye Institute : NEI</contract-sponsor>
</article-meta>
</front>
</pmc>
<affiliations><list><country><li>France</li>
<li>Italie</li>
<li>Jordanie</li>
<li>Royaume-Uni</li>
<li>Turquie</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Angleterre de l'Est</li>
<li>Latium</li>
<li>Lombardie</li>
<li>Midlands de l'Ouest</li>
<li>Oregon</li>
<li>Île-de-France</li>
</region>
<settlement><li>Birmingham</li>
<li>Cambridge</li>
<li>Milan</li>
<li>Portland</li>
<li>Rome</li>
</settlement>
<orgName><li>Université de Cambridge</li>
<li>Université des sciences et de la médecine de l'Oregon</li>
</orgName>
</list>
<tree><country name="Royaume-Uni"><noRegion><name sortKey="Morgan, Neil V" sort="Morgan, Neil V" uniqKey="Morgan N" first="Neil V" last="Morgan">Neil V. Morgan</name>
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<name sortKey="Gissen, Paul" sort="Gissen, Paul" uniqKey="Gissen P" first="Paul" last="Gissen">Paul Gissen</name>
<name sortKey="Johnson, Colin A" sort="Johnson, Colin A" uniqKey="Johnson C" first="Colin A" last="Johnson">Colin A. Johnson</name>
<name sortKey="Maher, Eamonn R" sort="Maher, Eamonn R" uniqKey="Maher E" first="Eamonn R" last="Maher">Eamonn R. Maher</name>
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<name sortKey="Morton, Jenny E V" sort="Morton, Jenny E V" uniqKey="Morton J" first="Jenny E V" last="Morton">Jenny E V. Morton</name>
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<name sortKey="Woods, C Geoffrey" sort="Woods, C Geoffrey" uniqKey="Woods C" first="C Geoffrey" last="Woods">C Geoffrey Woods</name>
</country>
<country name="États-Unis"><region name="Oregon"><name sortKey="Westaway, Shawn K" sort="Westaway, Shawn K" uniqKey="Westaway S" first="Shawn K" last="Westaway">Shawn K. Westaway</name>
</region>
<name sortKey="Coryell, Jason" sort="Coryell, Jason" uniqKey="Coryell J" first="Jason" last="Coryell">Jason Coryell</name>
<name sortKey="Gitschier, Jane" sort="Gitschier, Jane" uniqKey="Gitschier J" first="Jane" last="Gitschier">Jane Gitschier</name>
<name sortKey="Gregory, Allison" sort="Gregory, Allison" uniqKey="Gregory A" first="Allison" last="Gregory">Allison Gregory</name>
<name sortKey="Hayflick, Susan J" sort="Hayflick, Susan J" uniqKey="Hayflick S" first="Susan J" last="Hayflick">Susan J. Hayflick</name>
<name sortKey="Hayflick, Susan J" sort="Hayflick, Susan J" uniqKey="Hayflick S" first="Susan J" last="Hayflick">Susan J. Hayflick</name>
<name sortKey="Hayflick, Susan J" sort="Hayflick, Susan J" uniqKey="Hayflick S" first="Susan J" last="Hayflick">Susan J. Hayflick</name>
<name sortKey="Kramer, Patricia" sort="Kramer, Patricia" uniqKey="Kramer P" first="Patricia" last="Kramer">Patricia Kramer</name>
<name sortKey="Kramer, Patricia" sort="Kramer, Patricia" uniqKey="Kramer P" first="Patricia" last="Kramer">Patricia Kramer</name>
<name sortKey="Levinson, Barbara" sort="Levinson, Barbara" uniqKey="Levinson B" first="Barbara" last="Levinson">Barbara Levinson</name>
<name sortKey="Schanen, Carolyn" sort="Schanen, Carolyn" uniqKey="Schanen C" first="Carolyn" last="Schanen">Carolyn Schanen</name>
<name sortKey="Sonek, Scott" sort="Sonek, Scott" uniqKey="Sonek S" first="Scott" last="Sonek">Scott Sonek</name>
<name sortKey="Wilmot, Beth" sort="Wilmot, Beth" uniqKey="Wilmot B" first="Beth" last="Wilmot">Beth Wilmot</name>
</country>
<country name="Turquie"><noRegion><name sortKey="Cangul, Hakan" sort="Cangul, Hakan" uniqKey="Cangul H" first="Hakan" last="Cangul">Hakan Cangul</name>
</noRegion>
</country>
<country name="Italie"><region name="Lombardie"><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name>
</region>
<name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name>
<name sortKey="Simonati, Alessandro" sort="Simonati, Alessandro" uniqKey="Simonati A" first="Alessandro" last="Simonati">Alessandro Simonati</name>
<name sortKey="Zorzi, Giovanna" sort="Zorzi, Giovanna" uniqKey="Zorzi G" first="Giovanna" last="Zorzi">Giovanna Zorzi</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
</region>
<name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name>
</country>
<country name="Jordanie"><noRegion><name sortKey="Mubaidin, Amar" sort="Mubaidin, Amar" uniqKey="Mubaidin A" first="Amar" last="Mubaidin">Amar Mubaidin</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
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