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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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><region type="country">Angleterre</region><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></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">16783378</idno><idno type="pmc">2117328</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2117328</idno><idno type="RBID">PMC:2117328</idno><idno type="doi">10.1038/ng1826</idno><date when="2006">2006</date><idno type="wicri:Area/Pmc/Corpus">000672</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000672</idno><idno type="wicri:Area/Pmc/Curation">000669</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000669</idno><idno type="wicri:Area/Pmc/Checkpoint">000904</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000904</idno><idno type="wicri:Area/Ncbi/Merge">000622</idno></publicationStmt><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><region type="country">Angleterre</region><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></noRegion><name sortKey="Cangul, Hakan" sort="Cangul, Hakan" uniqKey="Cangul H" first="Hakan" last="Cangul">Hakan Cangul</name><name sortKey="Canham, Natalie" sort="Canham, Natalie" uniqKey="Canham N" first="Natalie" last="Canham">Natalie Canham</name><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><name sortKey="Maher, Eamonn R" sort="Maher, Eamonn R" uniqKey="Maher E" first="Eamonn R" last="Maher">Eamonn R. Maher</name><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><name sortKey="Pasha, Shanaz" sort="Pasha, Shanaz" uniqKey="Pasha S" first="Shanaz" last="Pasha">Shanaz Pasha</name><name sortKey="Trembath, Richard C" sort="Trembath, Richard C" uniqKey="Trembath R" first="Richard C" last="Trembath">Richard C. Trembath</name><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>Pour manipuler ce document sous Unix (Dilib)
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