Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
Identifieur interne : 001679 ( Pmc/Corpus ); précédent : 001678; suivant : 001680Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
Auteurs : Marie-Christine Chartier-Harlin ; Justus C. Dachsel ; Carles Vilari O-Güell ; Sarah J. Lincoln ; Frédéric Leprêtre ; Mary M. Hulihan ; Jennifer Kachergus ; Austen J. Milnerwood ; Lucia Tapia ; Mee-Sook Song ; Emilie Le Rhun ; Eugénie Mutez ; Lydie Larvor ; Aurélie Duflot ; Christel Vanbesien-Mailliot ; Alexandre Kreisler ; Owen A. Ross ; Kenya Nishioka ; Alexandra I. Soto-Ortolaza ; Stephanie A. Cobb ; Heather L. Melrose ; Bahareh Behrouz ; Brett H. Keeling ; Justin A. Bacon ; Emna Hentati ; Lindsey Williams ; Akiko Yanagiya ; Nahum Sonenberg ; Paul J. Lockhart ; Abba C. Zubair ; Ryan J. Uitti ; Jan O. Aasly ; Anna Krygowska-Wajs ; Grzegorz Opala ; Zbigniew K. Wszolek ; Roberta Frigerio ; Demetrius M. Maraganore ; David Gosal ; Tim Lynch ; Michael Hutchinson ; Anna Rita Bentivoglio ; Enza Maria Valente ; William C. Nichols ; Nathan Pankratz ; Tatiana Foroud ; Rachel A. Gibson ; Faycal Hentati ; Dennis W. Dickson ; Alain Destée ; Matthew J. FarrerSource :
- American Journal of Human Genetics [ 0002-9297 ] ; 2011.
Abstract
Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is explained by a missense mutation c.3614G>A (p.Arg1205His) in eukaryotic translation initiation factor 4-gamma (
Url:
DOI: 10.1016/j.ajhg.2011.08.009
PubMed: 21907011
PubMed Central: 3169825
Links to Exploration step
PMC:3169825Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Translation Initiator <italic>EIF4G1</italic> Mutations in Familial Parkinson Disease</title><author><name sortKey="Chartier Harlin, Marie Christine" sort="Chartier Harlin, Marie Christine" uniqKey="Chartier Harlin M" first="Marie-Christine" last="Chartier-Harlin">Marie-Christine Chartier-Harlin</name><affiliation><nlm:aff id="aff1">Université Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Dachsel, Justus C" sort="Dachsel, Justus C" uniqKey="Dachsel J" first="Justus C." last="Dachsel">Justus C. Dachsel</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><affiliation><nlm:aff id="aff4">Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada</nlm:aff></affiliation></author><author><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Lepretre, Frederic" sort="Lepretre, Frederic" uniqKey="Lepretre F" first="Frédéric" last="Leprêtre">Frédéric Leprêtre</name><affiliation><nlm:aff id="aff1">Université Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Hulihan, Mary M" sort="Hulihan, Mary M" uniqKey="Hulihan M" first="Mary M." last="Hulihan">Mary M. Hulihan</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Milnerwood, Austen J" sort="Milnerwood, Austen J" uniqKey="Milnerwood A" first="Austen J." last="Milnerwood">Austen J. Milnerwood</name><affiliation><nlm:aff id="aff4">Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada</nlm:aff></affiliation></author><author><name sortKey="Tapia, Lucia" sort="Tapia, Lucia" uniqKey="Tapia L" first="Lucia" last="Tapia">Lucia Tapia</name><affiliation><nlm:aff id="aff4">Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada</nlm:aff></affiliation></author><author><name sortKey="Song, Mee Sook" sort="Song, Mee Sook" uniqKey="Song M" first="Mee-Sook" last="Song">Mee-Sook Song</name><affiliation><nlm:aff id="aff4">Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada</nlm:aff></affiliation></author><author><name sortKey="Le Rhun, Emilie" sort="Le Rhun, Emilie" uniqKey="Le Rhun E" first="Emilie" last="Le Rhun">Emilie Le Rhun</name><affiliation><nlm:aff id="aff5">Centre Hospitalier Régional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Mutez, Eugenie" sort="Mutez, Eugenie" uniqKey="Mutez E" first="Eugénie" last="Mutez">Eugénie Mutez</name><affiliation><nlm:aff id="aff1">Université Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Centre Hospitalier Régional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Larvor, Lydie" sort="Larvor, Lydie" uniqKey="Larvor L" first="Lydie" last="Larvor">Lydie Larvor</name><affiliation><nlm:aff id="aff1">Université Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Duflot, Aurelie" sort="Duflot, Aurelie" uniqKey="Duflot A" first="Aurélie" last="Duflot">Aurélie Duflot</name><affiliation><nlm:aff id="aff1">Université Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Vanbesien Mailliot, Christel" sort="Vanbesien Mailliot, Christel" uniqKey="Vanbesien Mailliot C" first="Christel" last="Vanbesien-Mailliot">Christel Vanbesien-Mailliot</name><affiliation><nlm:aff id="aff1">Université Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Université des Sciences et Technologies de Lille (USTL), Department of Neurosciences, Villeneuve d'Ascq, F-59655 France</nlm:aff></affiliation></author><author><name sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name><affiliation><nlm:aff id="aff1">Université Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Centre Hospitalier Régional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Melrose, Heather L" sort="Melrose, Heather L" uniqKey="Melrose H" first="Heather L." last="Melrose">Heather L. Melrose</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Behrouz, Bahareh" sort="Behrouz, Bahareh" uniqKey="Behrouz B" first="Bahareh" last="Behrouz">Bahareh Behrouz</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Keeling, Brett H" sort="Keeling, Brett H" uniqKey="Keeling B" first="Brett H." last="Keeling">Brett H. Keeling</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Bacon, Justin A" sort="Bacon, Justin A" uniqKey="Bacon J" first="Justin A." last="Bacon">Justin A. Bacon</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Hentati, Emna" sort="Hentati, Emna" uniqKey="Hentati E" first="Emna" last="Hentati">Emna Hentati</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Williams, Lindsey" sort="Williams, Lindsey" uniqKey="Williams L" first="Lindsey" last="Williams">Lindsey Williams</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Yanagiya, Akiko" sort="Yanagiya, Akiko" uniqKey="Yanagiya A" first="Akiko" last="Yanagiya">Akiko Yanagiya</name><affiliation><nlm:aff id="aff7">Department of Biochemistry and Goodman Cancer Research Centre, McGill University, Montreal, Quebec H3A 3R1, Canada</nlm:aff></affiliation></author><author><name sortKey="Sonenberg, Nahum" sort="Sonenberg, Nahum" uniqKey="Sonenberg N" first="Nahum" last="Sonenberg">Nahum Sonenberg</name><affiliation><nlm:aff id="aff7">Department of Biochemistry and Goodman Cancer Research Centre, McGill University, Montreal, Quebec H3A 3R1, Canada</nlm:aff></affiliation></author><author><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J." last="Lockhart">Paul J. Lockhart</name><affiliation><nlm:aff id="aff8">Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Zubair, Abba C" sort="Zubair, Abba C" uniqKey="Zubair A" first="Abba C." last="Zubair">Abba C. Zubair</name><affiliation><nlm:aff id="aff9">Department of Laboratory Medicine and Pathology, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name><affiliation><nlm:aff id="aff10">Department of Neurology, St. Olav's Hospital, Trondheim N-7006, Norway</nlm:aff></affiliation></author><author><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name><affiliation><nlm:aff id="aff11">Department of Neurology, Collegium Medicum, Jagiellonian University, Krakow 31-358, Poland</nlm:aff></affiliation></author><author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name><affiliation><nlm:aff id="aff12">Department of Neurology, Aging, Degenerative and Cerebrovascular Disorders, Medical University of Silesia, Katowice 40-055, Poland</nlm:aff></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Frigerio, Roberta" sort="Frigerio, Roberta" uniqKey="Frigerio R" first="Roberta" last="Frigerio">Roberta Frigerio</name><affiliation><nlm:aff id="aff13">Department of Neurology, Mayo Clinic, Rochester, MN 55909, USA</nlm:aff></affiliation></author><author><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name><affiliation><nlm:aff id="aff13">Department of Neurology, Mayo Clinic, Rochester, MN 55909, USA</nlm:aff></affiliation></author><author><name sortKey="Gosal, David" sort="Gosal, David" uniqKey="Gosal D" first="David" last="Gosal">David Gosal</name><affiliation><nlm:aff id="aff14">Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin 7, Ireland</nlm:aff></affiliation></author><author><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name><affiliation><nlm:aff id="aff14">Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin 7, Ireland</nlm:aff></affiliation><affiliation><nlm:aff id="aff15">Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin 4, Ireland</nlm:aff></affiliation></author><author><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name><affiliation><nlm:aff id="aff16">Department of Neurology, St Vincent's University Hospital, Dublin 4, Ireland</nlm:aff></affiliation></author><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name><affiliation><nlm:aff id="aff17">Institute of Neurology, Catholic University, Rome 00168, Italy</nlm:aff></affiliation></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><affiliation><nlm:aff id="aff18">Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Italy</nlm:aff></affiliation><affiliation><nlm:aff id="aff19">Department of Medical and Surgical Pediatric Sciences, University of Messina, Messina, 98124 Italy</nlm:aff></affiliation></author><author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name><affiliation><nlm:aff id="aff20">Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA</nlm:aff></affiliation></author><author><name sortKey="Pankratz, Nathan" sort="Pankratz, Nathan" uniqKey="Pankratz N" first="Nathan" last="Pankratz">Nathan Pankratz</name><affiliation><nlm:aff id="aff21">Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA</nlm:aff></affiliation></author><author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name><affiliation><nlm:aff id="aff21">Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA</nlm:aff></affiliation></author><author><name sortKey="Gibson, Rachel A" sort="Gibson, Rachel A" uniqKey="Gibson R" first="Rachel A." last="Gibson">Rachel A. Gibson</name><affiliation><nlm:aff id="aff22">GlaxoSmithKline Pharmaceuticals, Research and Development, Harlow, Greenford, Hammersmith CM19 5AW, UK</nlm:aff></affiliation></author><author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name><affiliation><nlm:aff id="aff23">Service de Neurologie, Institut National de Neurologie, 1007 La Rabta, Tunis, Tunisia</nlm:aff></affiliation></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name><affiliation><nlm:aff id="aff1">Université Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Centre Hospitalier Régional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21907011</idno><idno type="pmc">3169825</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3169825</idno><idno type="RBID">PMC:3169825</idno><idno type="doi">10.1016/j.ajhg.2011.08.009</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">001679</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001679</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Translation Initiator <italic>EIF4G1</italic> Mutations in Familial Parkinson Disease</title><author><name sortKey="Chartier Harlin, Marie Christine" sort="Chartier Harlin, Marie Christine" uniqKey="Chartier Harlin M" first="Marie-Christine" last="Chartier-Harlin">Marie-Christine Chartier-Harlin</name><affiliation><nlm:aff id="aff1">Université Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Dachsel, Justus C" sort="Dachsel, Justus C" uniqKey="Dachsel J" first="Justus C." last="Dachsel">Justus C. Dachsel</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><affiliation><nlm:aff id="aff4">Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada</nlm:aff></affiliation></author><author><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Lepretre, Frederic" sort="Lepretre, Frederic" uniqKey="Lepretre F" first="Frédéric" last="Leprêtre">Frédéric Leprêtre</name><affiliation><nlm:aff id="aff1">Université Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Hulihan, Mary M" sort="Hulihan, Mary M" uniqKey="Hulihan M" first="Mary M." last="Hulihan">Mary M. Hulihan</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Milnerwood, Austen J" sort="Milnerwood, Austen J" uniqKey="Milnerwood A" first="Austen J." last="Milnerwood">Austen J. Milnerwood</name><affiliation><nlm:aff id="aff4">Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada</nlm:aff></affiliation></author><author><name sortKey="Tapia, Lucia" sort="Tapia, Lucia" uniqKey="Tapia L" first="Lucia" last="Tapia">Lucia Tapia</name><affiliation><nlm:aff id="aff4">Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada</nlm:aff></affiliation></author><author><name sortKey="Song, Mee Sook" sort="Song, Mee Sook" uniqKey="Song M" first="Mee-Sook" last="Song">Mee-Sook Song</name><affiliation><nlm:aff id="aff4">Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada</nlm:aff></affiliation></author><author><name sortKey="Le Rhun, Emilie" sort="Le Rhun, Emilie" uniqKey="Le Rhun E" first="Emilie" last="Le Rhun">Emilie Le Rhun</name><affiliation><nlm:aff id="aff5">Centre Hospitalier Régional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Mutez, Eugenie" sort="Mutez, Eugenie" uniqKey="Mutez E" first="Eugénie" last="Mutez">Eugénie Mutez</name><affiliation><nlm:aff id="aff1">Université Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Centre Hospitalier Régional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Larvor, Lydie" sort="Larvor, Lydie" uniqKey="Larvor L" first="Lydie" last="Larvor">Lydie Larvor</name><affiliation><nlm:aff id="aff1">Université Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Duflot, Aurelie" sort="Duflot, Aurelie" uniqKey="Duflot A" first="Aurélie" last="Duflot">Aurélie Duflot</name><affiliation><nlm:aff id="aff1">Université Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Vanbesien Mailliot, Christel" sort="Vanbesien Mailliot, Christel" uniqKey="Vanbesien Mailliot C" first="Christel" last="Vanbesien-Mailliot">Christel Vanbesien-Mailliot</name><affiliation><nlm:aff id="aff1">Université Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Université des Sciences et Technologies de Lille (USTL), Department of Neurosciences, Villeneuve d'Ascq, F-59655 France</nlm:aff></affiliation></author><author><name sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name><affiliation><nlm:aff id="aff1">Université Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Centre Hospitalier Régional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Melrose, Heather L" sort="Melrose, Heather L" uniqKey="Melrose H" first="Heather L." last="Melrose">Heather L. Melrose</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Behrouz, Bahareh" sort="Behrouz, Bahareh" uniqKey="Behrouz B" first="Bahareh" last="Behrouz">Bahareh Behrouz</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Keeling, Brett H" sort="Keeling, Brett H" uniqKey="Keeling B" first="Brett H." last="Keeling">Brett H. Keeling</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Bacon, Justin A" sort="Bacon, Justin A" uniqKey="Bacon J" first="Justin A." last="Bacon">Justin A. Bacon</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Hentati, Emna" sort="Hentati, Emna" uniqKey="Hentati E" first="Emna" last="Hentati">Emna Hentati</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Williams, Lindsey" sort="Williams, Lindsey" uniqKey="Williams L" first="Lindsey" last="Williams">Lindsey Williams</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Yanagiya, Akiko" sort="Yanagiya, Akiko" uniqKey="Yanagiya A" first="Akiko" last="Yanagiya">Akiko Yanagiya</name><affiliation><nlm:aff id="aff7">Department of Biochemistry and Goodman Cancer Research Centre, McGill University, Montreal, Quebec H3A 3R1, Canada</nlm:aff></affiliation></author><author><name sortKey="Sonenberg, Nahum" sort="Sonenberg, Nahum" uniqKey="Sonenberg N" first="Nahum" last="Sonenberg">Nahum Sonenberg</name><affiliation><nlm:aff id="aff7">Department of Biochemistry and Goodman Cancer Research Centre, McGill University, Montreal, Quebec H3A 3R1, Canada</nlm:aff></affiliation></author><author><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J." last="Lockhart">Paul J. Lockhart</name><affiliation><nlm:aff id="aff8">Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Zubair, Abba C" sort="Zubair, Abba C" uniqKey="Zubair A" first="Abba C." last="Zubair">Abba C. Zubair</name><affiliation><nlm:aff id="aff9">Department of Laboratory Medicine and Pathology, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name><affiliation><nlm:aff id="aff10">Department of Neurology, St. Olav's Hospital, Trondheim N-7006, Norway</nlm:aff></affiliation></author><author><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name><affiliation><nlm:aff id="aff11">Department of Neurology, Collegium Medicum, Jagiellonian University, Krakow 31-358, Poland</nlm:aff></affiliation></author><author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name><affiliation><nlm:aff id="aff12">Department of Neurology, Aging, Degenerative and Cerebrovascular Disorders, Medical University of Silesia, Katowice 40-055, Poland</nlm:aff></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Frigerio, Roberta" sort="Frigerio, Roberta" uniqKey="Frigerio R" first="Roberta" last="Frigerio">Roberta Frigerio</name><affiliation><nlm:aff id="aff13">Department of Neurology, Mayo Clinic, Rochester, MN 55909, USA</nlm:aff></affiliation></author><author><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name><affiliation><nlm:aff id="aff13">Department of Neurology, Mayo Clinic, Rochester, MN 55909, USA</nlm:aff></affiliation></author><author><name sortKey="Gosal, David" sort="Gosal, David" uniqKey="Gosal D" first="David" last="Gosal">David Gosal</name><affiliation><nlm:aff id="aff14">Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin 7, Ireland</nlm:aff></affiliation></author><author><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name><affiliation><nlm:aff id="aff14">Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin 7, Ireland</nlm:aff></affiliation><affiliation><nlm:aff id="aff15">Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin 4, Ireland</nlm:aff></affiliation></author><author><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name><affiliation><nlm:aff id="aff16">Department of Neurology, St Vincent's University Hospital, Dublin 4, Ireland</nlm:aff></affiliation></author><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name><affiliation><nlm:aff id="aff17">Institute of Neurology, Catholic University, Rome 00168, Italy</nlm:aff></affiliation></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><affiliation><nlm:aff id="aff18">Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Italy</nlm:aff></affiliation><affiliation><nlm:aff id="aff19">Department of Medical and Surgical Pediatric Sciences, University of Messina, Messina, 98124 Italy</nlm:aff></affiliation></author><author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name><affiliation><nlm:aff id="aff20">Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA</nlm:aff></affiliation></author><author><name sortKey="Pankratz, Nathan" sort="Pankratz, Nathan" uniqKey="Pankratz N" first="Nathan" last="Pankratz">Nathan Pankratz</name><affiliation><nlm:aff id="aff21">Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA</nlm:aff></affiliation></author><author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name><affiliation><nlm:aff id="aff21">Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA</nlm:aff></affiliation></author><author><name sortKey="Gibson, Rachel A" sort="Gibson, Rachel A" uniqKey="Gibson R" first="Rachel A." last="Gibson">Rachel A. Gibson</name><affiliation><nlm:aff id="aff22">GlaxoSmithKline Pharmaceuticals, Research and Development, Harlow, Greenford, Hammersmith CM19 5AW, UK</nlm:aff></affiliation></author><author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name><affiliation><nlm:aff id="aff23">Service de Neurologie, Institut National de Neurologie, 1007 La Rabta, Tunis, Tunisia</nlm:aff></affiliation></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name><affiliation><nlm:aff id="aff1">Université Lille Nord de France, F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Centre Hospitalier Régional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders, F-59000 Lille, France</nlm:aff></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation><nlm:aff id="aff3">Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is explained by a missense mutation c.3614G>A (p.Arg1205His) in eukaryotic translation initiation factor 4-gamma (<italic>EIF4G1</italic>). Subsequent sequence and genotype analysis identified <italic>EIF4G1</italic> c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects. Despite different countries of origin, persons with <italic>EIF4G1</italic> c.1505C>T (p.Ala502Val) or c.3614G>A (p.Arg1205His) mutations appear to share haplotypes consistent with ancestral founders. eIF4G1 p.Ala502Val and p.Arg1205His disrupt eIF4E or eIF3e binding, although the wild-type protein does not, and render mutant cells more vulnerable to reactive oxidative species. <italic>EIF4G1</italic> mutations implicate mRNA translation initiation in familial parkinsonism and highlight a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease.</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>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">21907011</article-id><article-id pub-id-type="pmc">3169825</article-id><article-id pub-id-type="publisher-id">AJHG974</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2011.08.009</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Translation Initiator <italic>EIF4G1</italic> Mutations in Familial Parkinson Disease</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Chartier-Harlin</surname><given-names>Marie-Christine</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">24</xref></contrib><contrib contrib-type="author"><name><surname>Dachsel</surname><given-names>Justus C.</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="fn1" ref-type="fn">24</xref></contrib><contrib contrib-type="author"><name><surname>Vilariño-Güell</surname><given-names>Carles</given-names></name><xref rid="aff4" ref-type="aff">4</xref><xref rid="fn1" ref-type="fn">24</xref></contrib><contrib contrib-type="author"><name><surname>Lincoln</surname><given-names>Sarah J.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Leprêtre</surname><given-names>Frédéric</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Hulihan</surname><given-names>Mary M.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Kachergus</surname><given-names>Jennifer</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Milnerwood</surname><given-names>Austen J.</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Tapia</surname><given-names>Lucia</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Song</surname><given-names>Mee-Sook</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Le Rhun</surname><given-names>Emilie</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Mutez</surname><given-names>Eugénie</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Larvor</surname><given-names>Lydie</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Duflot</surname><given-names>Aurélie</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Vanbesien-Mailliot</surname><given-names>Christel</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Kreisler</surname><given-names>Alexandre</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Ross</surname><given-names>Owen A.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Nishioka</surname><given-names>Kenya</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Soto-Ortolaza</surname><given-names>Alexandra I.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Cobb</surname><given-names>Stephanie A.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Melrose</surname><given-names>Heather L.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Behrouz</surname><given-names>Bahareh</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Keeling</surname><given-names>Brett H.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Bacon</surname><given-names>Justin A.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Hentati</surname><given-names>Emna</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Williams</surname><given-names>Lindsey</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Yanagiya</surname><given-names>Akiko</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Sonenberg</surname><given-names>Nahum</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Lockhart</surname><given-names>Paul J.</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Zubair</surname><given-names>Abba C.</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Uitti</surname><given-names>Ryan J.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Aasly</surname><given-names>Jan O.</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Krygowska-Wajs</surname><given-names>Anna</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Opala</surname><given-names>Grzegorz</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Wszolek</surname><given-names>Zbigniew K.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Frigerio</surname><given-names>Roberta</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Maraganore</surname><given-names>Demetrius M.</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Gosal</surname><given-names>David</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Lynch</surname><given-names>Tim</given-names></name><xref rid="aff14" ref-type="aff">14</xref><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Hutchinson</surname><given-names>Michael</given-names></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Bentivoglio</surname><given-names>Anna Rita</given-names></name><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Valente</surname><given-names>Enza Maria</given-names></name><xref rid="aff18" ref-type="aff">18</xref><xref rid="aff19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>Nichols</surname><given-names>William C.</given-names></name><xref rid="aff20" ref-type="aff">20</xref></contrib><contrib contrib-type="author"><name><surname>Pankratz</surname><given-names>Nathan</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Foroud</surname><given-names>Tatiana</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Gibson</surname><given-names>Rachel A.</given-names></name><xref rid="aff22" ref-type="aff">22</xref></contrib><contrib contrib-type="author"><name><surname>Hentati</surname><given-names>Faycal</given-names></name><xref rid="aff23" ref-type="aff">23</xref></contrib><contrib contrib-type="author"><name><surname>Dickson</surname><given-names>Dennis W.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Destée</surname><given-names>Alain</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff5" ref-type="aff">5</xref><xref rid="fn2" ref-type="fn">25</xref></contrib><contrib contrib-type="author"><name><surname>Farrer</surname><given-names>Matthew J.</given-names></name><email>mfarrer@can.ubc.ca</email><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref><xref rid="fn2" ref-type="fn">25</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Université Lille Nord de France, F-59000 Lille, France</aff><aff id="aff2"><label>2</label>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun, 59045 Lille Cedex, IFR114 IMPRT F-59000 Lille, France</aff><aff id="aff3"><label>3</label>Departments of Neurology and Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</aff><aff id="aff4"><label>4</label>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada</aff><aff id="aff5"><label>5</label>Centre Hospitalier Régional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders, F-59000 Lille, France</aff><aff id="aff6"><label>6</label>Université des Sciences et Technologies de Lille (USTL), Department of Neurosciences, Villeneuve d'Ascq, F-59655 France</aff><aff id="aff7"><label>7</label>Department of Biochemistry and Goodman Cancer Research Centre, McGill University, Montreal, Quebec H3A 3R1, Canada</aff><aff id="aff8"><label>8</label>Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia</aff><aff id="aff9"><label>9</label>Department of Laboratory Medicine and Pathology, Mayo Clinic, Jacksonville, FL 32224, USA</aff><aff id="aff10"><label>10</label>Department of Neurology, St. Olav's Hospital, Trondheim N-7006, Norway</aff><aff id="aff11"><label>11</label>Department of Neurology, Collegium Medicum, Jagiellonian University, Krakow 31-358, Poland</aff><aff id="aff12"><label>12</label>Department of Neurology, Aging, Degenerative and Cerebrovascular Disorders, Medical University of Silesia, Katowice 40-055, Poland</aff><aff id="aff13"><label>13</label>Department of Neurology, Mayo Clinic, Rochester, MN 55909, USA</aff><aff id="aff14"><label>14</label>Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin 7, Ireland</aff><aff id="aff15"><label>15</label>Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin 4, Ireland</aff><aff id="aff16"><label>16</label>Department of Neurology, St Vincent's University Hospital, Dublin 4, Ireland</aff><aff id="aff17"><label>17</label>Institute of Neurology, Catholic University, Rome 00168, Italy</aff><aff id="aff18"><label>18</label>Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Italy</aff><aff id="aff19"><label>19</label>Department of Medical and Surgical Pediatric Sciences, University of Messina, Messina, 98124 Italy</aff><aff id="aff20"><label>20</label>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA</aff><aff id="aff21"><label>21</label>Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA</aff><aff id="aff22"><label>22</label>GlaxoSmithKline Pharmaceuticals, Research and Development, Harlow, Greenford, Hammersmith CM19 5AW, UK</aff><aff id="aff23"><label>23</label>Service de Neurologie, Institut National de Neurologie, 1007 La Rabta, Tunis, Tunisia</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>mfarrer@can.ubc.ca</email></corresp><fn id="fn1"><label>24</label><p>These authors contributed equally to this work</p></fn><fn id="fn2"><label>25</label><p>These authors contributed equally to this work</p></fn></author-notes><pub-date pub-type="ppub"><day>09</day><month>9</month><year>2011</year></pub-date><volume>89</volume><issue>3</issue><fpage>398</fpage><lpage>406</lpage><history><date date-type="received"><day>20</day><month>4</month><year>2011</year></date><date date-type="rev-recd"><day>26</day><month>7</month><year>2011</year></date><date date-type="accepted"><day>13</day><month>8</month><year>2011</year></date></history><permissions><copyright-statement>© 2011 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2011</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is explained by a missense mutation c.3614G>A (p.Arg1205His) in eukaryotic translation initiation factor 4-gamma (<italic>EIF4G1</italic>). Subsequent sequence and genotype analysis identified <italic>EIF4G1</italic> c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects. Despite different countries of origin, persons with <italic>EIF4G1</italic> c.1505C>T (p.Ala502Val) or c.3614G>A (p.Arg1205His) mutations appear to share haplotypes consistent with ancestral founders. eIF4G1 p.Ala502Val and p.Arg1205His disrupt eIF4E or eIF3e binding, although the wild-type protein does not, and render mutant cells more vulnerable to reactive oxidative species. <italic>EIF4G1</italic> mutations implicate mRNA translation initiation in familial parkinsonism and highlight a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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