Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
Identifieur interne : 000988 ( PascalFrancis/Curation ); précédent : 000987; suivant : 000989Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
Auteurs : Marie-Christine Chartier-Harlin [France] ; Justus C. Dachsel [États-Unis] ; Carles Vilarino-Güell [Canada] ; Sarah J. Lincoln [États-Unis] ; Frédéric Lepretre [France] ; Mary M. Hulihan [États-Unis] ; Jennifer Kachergus [États-Unis] ; Austen J. Milnerwood [Canada] ; Lucia Tapia [Canada] ; Mee-Sook Song [Canada] ; Emilie Le Rhun [France] ; Eugénie Mutez [France] ; Lydie Larvor [France] ; Aurélie Duflot [France] ; Christel Vanbesien-Mailliot [France] ; Alexandre Kreisler [France] ; Owen A. Ross [États-Unis] ; Kenya Nishioka [États-Unis] ; Alexandra I. Soto-Ortolaza [États-Unis] ; Stephanie A. Cobb [États-Unis] ; Heather L. Melrose [États-Unis] ; Bahareh Behrouz [États-Unis] ; Brett H. Keeling [États-Unis] ; Justin A. Bacon [États-Unis] ; Emna Hentati [États-Unis] ; Lindsey Williams [États-Unis] ; Akiko Yanagiya [Canada] ; Nahum Sonenberg [Canada] ; Paul J. Lockhart [Australie] ; Abba C. Zubair [États-Unis] ; Ryan J. Uitti [États-Unis] ; Jan O. Aasly [Norvège] ; Anna Krygowska-Wajs [Pologne] ; Grzegorz Opala [Pologne] ; Zbigniew K. Wszolek [États-Unis] ; 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 [États-Unis] ; Alain Destee [France] ; Matthew J. Farrer [États-Unis, Canada]Source :
- American journal of human genetics [ 0002-9297 ] ; 2011.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
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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 (EIF4G1). Subsequent sequence and genotype analysis identified EIF4G1 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 EIF4G1 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. EIF4G1 mutations implicate mRNA translation initiation in familial parkinsonism and highlight a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease.
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i1="03"><s1>IFR114 IMPRT</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Duflot, Aurelie" sort="Duflot, Aurelie" uniqKey="Duflot A" first="Aurélie" last="Duflot">Aurélie Duflot</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Lille Nord de France</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1><s2>59045 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 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UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1><s2>59045 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>IFR114 IMPRT</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Université des Sciences et Technologies de Lille (USTL), Department of Neurosciences</s1><s2>Villeneuve d'Ascq, 59655</s2><s3>FRA</s3><sZ>15 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name><affiliation 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wicri:level="1"><inist:fA14 i1="06"><s1>Centre Hospitalier Regional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. 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Soto-Ortolaza</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Behrouz, Bahareh" sort="Behrouz, Bahareh" uniqKey="Behrouz B" first="Bahareh" last="Behrouz">Bahareh Behrouz</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Hentati, Emna" sort="Hentati, Emna" uniqKey="Hentati E" first="Emna" last="Hentati">Emna Hentati</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Williams, Lindsey" sort="Williams, Lindsey" uniqKey="Williams L" first="Lindsey" last="Williams">Lindsey Williams</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Yanagiya, Akiko" sort="Yanagiya, Akiko" uniqKey="Yanagiya A" first="Akiko" last="Yanagiya">Akiko Yanagiya</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Biochemistry and Goodman Cancer Research Centre, McGill University</s1><s2>Montreal, Quebec H3A 3R1</s2><s3>CAN</s3><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Canada</country></affiliation></author><author><name sortKey="Sonenberg, Nahum" sort="Sonenberg, Nahum" uniqKey="Sonenberg N" first="Nahum" last="Sonenberg">Nahum Sonenberg</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Biochemistry and Goodman Cancer Research Centre, McGill University</s1><s2>Montreal, Quebec H3A 3R1</s2><s3>CAN</s3><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Canada</country></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 wicri:level="1"><inist:fA14 i1="09"><s1>Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute</s1><s2>Parkville, Victoria 3052</s2><s3>AUS</s3><sZ>29 aut.</sZ></inist:fA14><country>Australie</country></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 wicri:level="1"><inist:fA14 i1="10"><s1>Department of Laboratory Medicine and Pathology, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>30 aut.</sZ></inist:fA14><country>États-Unis</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></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 wicri:level="1"><inist:fA14 i1="11"><s1>Department of Neurology, St. Olav's Hospital</s1><s2>Trondheim 7006</s2><s3>NOR</s3><sZ>32 aut.</sZ></inist:fA14><country>Norvège</country></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 wicri:level="1"><inist:fA14 i1="12"><s1>Department of Neurology, Collegium Medicum, Jagiellonian University</s1><s2>Krakow 31-358</s2><s3>POL</s3><sZ>33 aut.</sZ></inist:fA14><country>Pologne</country></affiliation></author><author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Department of Neurology, Aging, Degenerative and Cerebrovascular Disorders, Medical University of Silesia</s1><s2>Katowice 40-055</s2><s3>POL</s3><sZ>34 aut.</sZ></inist:fA14><country>Pologne</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Frigerio, Roberta" sort="Frigerio, Roberta" uniqKey="Frigerio R" first="Roberta" last="Frigerio">Roberta Frigerio</name></author><author><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name></author><author><name sortKey="Gosal, David" sort="Gosal, David" uniqKey="Gosal D" first="David" last="Gosal">David Gosal</name></author><author><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name></author><author><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name></author><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></author><author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name></author><author><name sortKey="Pankratz, Nathan" sort="Pankratz, Nathan" uniqKey="Pankratz N" first="Nathan" last="Pankratz">Nathan Pankratz</name></author><author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name></author><author><name sortKey="Gibson, Rachel A" sort="Gibson, Rachel A" uniqKey="Gibson R" first="Rachel A." last="Gibson">Rachel A. Gibson</name></author><author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destee</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Lille Nord de France</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1><s2>59045 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>IFR114 IMPRT</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Centre Hospitalier Regional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Medical Genetics, University of British Columbia</s1><s2>Vancouver, British Columbia V6T 2B5</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>Canada</country></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">11-0441104</idno><date when="2011">2011</date><idno type="stanalyst">PASCAL 11-0441104 INIST</idno><idno type="RBID">Pascal:11-0441104</idno><idno type="wicri:Area/PascalFrancis/Corpus">000275</idno><idno type="wicri:Area/PascalFrancis/Curation">000988</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Translation Initiator EIF4G1 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 wicri:level="1"><inist:fA14 i1="01"><s1>Université Lille Nord de France</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1><s2>59045 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>IFR114 IMPRT</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Vilarino Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell C" first="Carles" last="Vilarino-Güell">Carles Vilarino-Güell</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Medical Genetics, University of British Columbia</s1><s2>Vancouver, British Columbia V6T 2B5</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>Canada</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Lepretre, Frederic" sort="Lepretre, Frederic" uniqKey="Lepretre F" first="Frédéric" last="Lepretre">Frédéric Lepretre</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Lille Nord de France</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1><s2>59045 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>IFR114 IMPRT</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></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 wicri:level="1"><inist:fA14 i1="05"><s1>Department of Medical Genetics, University of British Columbia</s1><s2>Vancouver, British Columbia V6T 2B5</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>Canada</country></affiliation></author><author><name sortKey="Tapia, Lucia" sort="Tapia, Lucia" uniqKey="Tapia L" first="Lucia" last="Tapia">Lucia Tapia</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Medical Genetics, University of British Columbia</s1><s2>Vancouver, British Columbia V6T 2B5</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>Canada</country></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 wicri:level="1"><inist:fA14 i1="05"><s1>Department of Medical Genetics, University of British Columbia</s1><s2>Vancouver, British Columbia V6T 2B5</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>Canada</country></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 wicri:level="1"><inist:fA14 i1="06"><s1>Centre Hospitalier Regional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Mutez, Eugenie" sort="Mutez, Eugenie" uniqKey="Mutez E" first="Eugénie" last="Mutez">Eugénie Mutez</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Lille Nord de France</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1><s2>59045 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>IFR114 IMPRT</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Centre Hospitalier Regional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Larvor, Lydie" sort="Larvor, Lydie" uniqKey="Larvor L" first="Lydie" last="Larvor">Lydie Larvor</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Lille Nord de France</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1><s2>59045 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>IFR114 IMPRT</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Duflot, Aurelie" sort="Duflot, Aurelie" uniqKey="Duflot A" first="Aurélie" last="Duflot">Aurélie Duflot</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Lille Nord de France</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1><s2>59045 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>IFR114 IMPRT</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></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 wicri:level="1"><inist:fA14 i1="01"><s1>Université Lille Nord de France</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1><s2>59045 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>IFR114 IMPRT</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Université des Sciences et Technologies de Lille (USTL), Department of Neurosciences</s1><s2>Villeneuve d'Ascq, 59655</s2><s3>FRA</s3><sZ>15 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Lille Nord de France</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1><s2>59045 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>IFR114 IMPRT</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Centre Hospitalier Regional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Behrouz, Bahareh" sort="Behrouz, Bahareh" uniqKey="Behrouz B" first="Bahareh" last="Behrouz">Bahareh Behrouz</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Hentati, Emna" sort="Hentati, Emna" uniqKey="Hentati E" first="Emna" last="Hentati">Emna Hentati</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Williams, Lindsey" sort="Williams, Lindsey" uniqKey="Williams L" first="Lindsey" last="Williams">Lindsey Williams</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Yanagiya, Akiko" sort="Yanagiya, Akiko" uniqKey="Yanagiya A" first="Akiko" last="Yanagiya">Akiko Yanagiya</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Biochemistry and Goodman Cancer Research Centre, McGill University</s1><s2>Montreal, Quebec H3A 3R1</s2><s3>CAN</s3><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Canada</country></affiliation></author><author><name sortKey="Sonenberg, Nahum" sort="Sonenberg, Nahum" uniqKey="Sonenberg N" first="Nahum" last="Sonenberg">Nahum Sonenberg</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Biochemistry and Goodman Cancer Research Centre, McGill University</s1><s2>Montreal, Quebec H3A 3R1</s2><s3>CAN</s3><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14><country>Canada</country></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 wicri:level="1"><inist:fA14 i1="09"><s1>Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute</s1><s2>Parkville, Victoria 3052</s2><s3>AUS</s3><sZ>29 aut.</sZ></inist:fA14><country>Australie</country></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 wicri:level="1"><inist:fA14 i1="10"><s1>Department of Laboratory Medicine and Pathology, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>30 aut.</sZ></inist:fA14><country>États-Unis</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></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 wicri:level="1"><inist:fA14 i1="11"><s1>Department of Neurology, St. Olav's Hospital</s1><s2>Trondheim 7006</s2><s3>NOR</s3><sZ>32 aut.</sZ></inist:fA14><country>Norvège</country></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 wicri:level="1"><inist:fA14 i1="12"><s1>Department of Neurology, Collegium Medicum, Jagiellonian University</s1><s2>Krakow 31-358</s2><s3>POL</s3><sZ>33 aut.</sZ></inist:fA14><country>Pologne</country></affiliation></author><author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Department of Neurology, Aging, Degenerative and Cerebrovascular Disorders, Medical University of Silesia</s1><s2>Katowice 40-055</s2><s3>POL</s3><sZ>34 aut.</sZ></inist:fA14><country>Pologne</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Frigerio, Roberta" sort="Frigerio, Roberta" uniqKey="Frigerio R" first="Roberta" last="Frigerio">Roberta Frigerio</name></author><author><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name></author><author><name sortKey="Gosal, David" sort="Gosal, David" uniqKey="Gosal D" first="David" last="Gosal">David Gosal</name></author><author><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name></author><author><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name></author><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></author><author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name></author><author><name sortKey="Pankratz, Nathan" sort="Pankratz, Nathan" uniqKey="Pankratz N" first="Nathan" last="Pankratz">Nathan Pankratz</name></author><author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name></author><author><name sortKey="Gibson, Rachel A" sort="Gibson, Rachel A" uniqKey="Gibson R" first="Rachel A." last="Gibson">Rachel A. Gibson</name></author><author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destee</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Lille Nord de France</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1><s2>59045 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>IFR114 IMPRT</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Centre Hospitalier Regional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></inist:fA14><country>France</country></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 wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Medical Genetics, University of British Columbia</s1><s2>Vancouver, British Columbia V6T 2B5</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>50 aut.</sZ></inist:fA14><country>Canada</country></affiliation></author></analytic><series><title level="j" type="main">American journal of human genetics</title><title level="j" type="abbreviated">Am. j. hum. genet.</title><idno type="ISSN">0002-9297</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">American journal of human genetics</title><title level="j" type="abbreviated">Am. j. hum. genet.</title><idno type="ISSN">0002-9297</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Familial disease</term><term>Genetics</term><term>Human</term><term>Initiator</term><term>Mutation</term><term>Parkinson disease</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Maladie familiale</term><term>Maladie de Parkinson</term><term>Amorceur</term><term>Mutation</term><term>Génétique</term><term>Homme</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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 (EIF4G1). Subsequent sequence and genotype analysis identified EIF4G1 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 EIF4G1 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. EIF4G1 mutations implicate mRNA translation initiation in familial parkinsonism and highlight a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0002-9297</s0></fA01><fA02 i1="01"><s0>AJHGAG</s0></fA02><fA03 i2="1"><s0>Am. j. hum. genet.</s0></fA03><fA05><s2>89</s2></fA05><fA06><s2>3</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease</s1></fA08><fA11 i1="01" i2="1"><s1>CHARTIER-HARLIN (Marie-Christine)</s1></fA11><fA11 i1="02" i2="1"><s1>DACHSEL (Justus C.)</s1></fA11><fA11 i1="03" i2="1"><s1>VILARINO-GÜELL (Carles)</s1></fA11><fA11 i1="04" i2="1"><s1>LINCOLN (Sarah J.)</s1></fA11><fA11 i1="05" i2="1"><s1>LEPRETRE (Frédéric)</s1></fA11><fA11 i1="06" i2="1"><s1>HULIHAN (Mary M.)</s1></fA11><fA11 i1="07" i2="1"><s1>KACHERGUS (Jennifer)</s1></fA11><fA11 i1="08" i2="1"><s1>MILNERWOOD (Austen J.)</s1></fA11><fA11 i1="09" i2="1"><s1>TAPIA (Lucia)</s1></fA11><fA11 i1="10" i2="1"><s1>SONG (Mee-Sook)</s1></fA11><fA11 i1="11" i2="1"><s1>LE RHUN (Emilie)</s1></fA11><fA11 i1="12" i2="1"><s1>MUTEZ (Eugénie)</s1></fA11><fA11 i1="13" i2="1"><s1>LARVOR (Lydie)</s1></fA11><fA11 i1="14" i2="1"><s1>DUFLOT (Aurélie)</s1></fA11><fA11 i1="15" i2="1"><s1>VANBESIEN-MAILLIOT (Christel)</s1></fA11><fA11 i1="16" i2="1"><s1>KREISLER (Alexandre)</s1></fA11><fA11 i1="17" i2="1"><s1>ROSS (Owen A.)</s1></fA11><fA11 i1="18" i2="1"><s1>NISHIOKA (Kenya)</s1></fA11><fA11 i1="19" i2="1"><s1>SOTO-ORTOLAZA (Alexandra I.)</s1></fA11><fA11 i1="20" i2="1"><s1>COBB (Stephanie A.)</s1></fA11><fA11 i1="21" i2="1"><s1>MELROSE (Heather L.)</s1></fA11><fA11 i1="22" i2="1"><s1>BEHROUZ (Bahareh)</s1></fA11><fA11 i1="23" i2="1"><s1>KEELING (Brett H.)</s1></fA11><fA11 i1="24" i2="1"><s1>BACON (Justin A.)</s1></fA11><fA11 i1="25" i2="1"><s1>HENTATI (Emna)</s1></fA11><fA11 i1="26" i2="1"><s1>WILLIAMS (Lindsey)</s1></fA11><fA11 i1="27" i2="1"><s1>YANAGIYA (Akiko)</s1></fA11><fA11 i1="28" i2="1"><s1>SONENBERG (Nahum)</s1></fA11><fA11 i1="29" i2="1"><s1>LOCKHART (Paul J.)</s1></fA11><fA11 i1="30" i2="1"><s1>ZUBAIR (Abba C.)</s1></fA11><fA11 i1="31" i2="1"><s1>UITTI (Ryan J.)</s1></fA11><fA11 i1="32" i2="1"><s1>AASLY (Jan O.)</s1></fA11><fA11 i1="33" i2="1"><s1>KRYGOWSKA-WAJS (Anna)</s1></fA11><fA11 i1="34" i2="1"><s1>OPALA (Grzegorz)</s1></fA11><fA11 i1="35" i2="1"><s1>WSZOLEK (Zbigniew K.)</s1></fA11><fA11 i1="36" i2="1"><s1>FRIGERIO (Roberta)</s1></fA11><fA11 i1="37" i2="1"><s1>MARAGANORE (Demetrius M.)</s1></fA11><fA11 i1="38" i2="1"><s1>GOSAL (David)</s1></fA11><fA11 i1="39" i2="1"><s1>LYNCH (Tim)</s1></fA11><fA11 i1="40" i2="1"><s1>HUTCHINSON (Michael)</s1></fA11><fA11 i1="41" i2="1"><s1>BENTIVOGLIO (Anna Rita)</s1></fA11><fA11 i1="42" i2="1"><s1>VALENTE (Enza Maria)</s1></fA11><fA11 i1="43" i2="1"><s1>NICHOLS (William C.)</s1></fA11><fA11 i1="44" i2="1"><s1>PANKRATZ (Nathan)</s1></fA11><fA11 i1="45" i2="1"><s1>FOROUD (Tatiana)</s1></fA11><fA11 i1="46" i2="1"><s1>GIBSON (Rachel A.)</s1></fA11><fA11 i1="47" i2="1"><s1>HENTATI (Faycal)</s1></fA11><fA11 i1="48" i2="1"><s1>DICKSON (Dennis W.)</s1></fA11><fA11 i1="49" i2="1"><s1>DESTEE (Alain)</s1></fA11><fA11 i1="50" i2="1"><s1>FARRER (Matthew J.)</s1></fA11><fA14 i1="01"><s1>Université Lille Nord de France</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></fA14><fA14 i1="02"><s1>Institut National de la Santé et de la Recherche Médicale (Inserm) UMR837, Institut de Recherches sur le Cancer de Lille (IRCL), Place de Verdun</s1><s2>59045 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></fA14><fA14 i1="03"><s1>IFR114 IMPRT</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></fA14><fA14 i1="04"><s1>Departments of Neurology and Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>31 aut.</sZ><sZ>35 aut.</sZ><sZ>48 aut.</sZ><sZ>50 aut.</sZ></fA14><fA14 i1="05"><s1>Department of Medical Genetics, University of British Columbia</s1><s2>Vancouver, British Columbia V6T 2B5</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>50 aut.</sZ></fA14><fA14 i1="06"><s1>Centre Hospitalier Regional Universitaire de Lille(CHRU), Department of Neurology and Movement Disorders</s1><s2>59000 Lille</s2><s3>FRA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>16 aut.</sZ><sZ>49 aut.</sZ></fA14><fA14 i1="07"><s1>Université des Sciences et Technologies de Lille (USTL), Department of Neurosciences</s1><s2>Villeneuve d'Ascq, 59655</s2><s3>FRA</s3><sZ>15 aut.</sZ></fA14><fA14 i1="08"><s1>Department of Biochemistry and Goodman Cancer Research Centre, McGill University</s1><s2>Montreal, Quebec H3A 3R1</s2><s3>CAN</s3><sZ>27 aut.</sZ><sZ>28 aut.</sZ></fA14><fA14 i1="09"><s1>Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute</s1><s2>Parkville, Victoria 3052</s2><s3>AUS</s3><sZ>29 aut.</sZ></fA14><fA14 i1="10"><s1>Department of Laboratory Medicine and Pathology, Mayo Clinic</s1><s2>Jacksonville, FL 32224</s2><s3>USA</s3><sZ>30 aut.</sZ></fA14><fA14 i1="11"><s1>Department of Neurology, St. Olav's Hospital</s1><s2>Trondheim 7006</s2><s3>NOR</s3><sZ>32 aut.</sZ></fA14><fA14 i1="12"><s1>Department of Neurology, Collegium Medicum, Jagiellonian University</s1><s2>Krakow 31-358</s2><s3>POL</s3><sZ>33 aut.</sZ></fA14><fA14 i1="13"><s1>Department of Neurology, Aging, Degenerative and Cerebrovascular Disorders, Medical University of Silesia</s1><s2>Katowice 40-055</s2><s3>POL</s3><sZ>34 aut.</sZ></fA14><fA20><s1>398-406</s1></fA20><fA21><s1>2011</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>2610</s2><s5>354000509908530040</s5></fA43><fA44><s0>0000</s0><s1>© 2011 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>25 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>11-0441104</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>American journal of human genetics</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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 (EIF4G1). Subsequent sequence and genotype analysis identified EIF4G1 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 EIF4G1 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. EIF4G1 mutations implicate mRNA translation initiation in familial parkinsonism and highlight a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease.</s0></fC01><fC02 i1="01" i2="X"><s0>002A04</s0></fC02><fC02 i1="02" i2="X"><s0>002A07</s0></fC02><fC02 i1="03" i2="X"><s0>002B23A</s0></fC02><fC02 i1="04" i2="X"><s0>002B17G</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Maladie familiale</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Familial disease</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Enfermedad familiar</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Maladie de Parkinson</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Parkinson disease</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Parkinson enfermedad</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Amorceur</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Initiator</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Cebador</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Mutation</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Mutation</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Mutación</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Génétique</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Genetics</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Genética</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Homme</s0><s5>12</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Human</s0><s5>12</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Hombre</s0><s5>12</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>40</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>41</s5></fC07><fN21><s1>297</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist></record>Pour manipuler ce document sous Unix (Dilib)
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