Translation initiator EIF4G1 mutations in familial Parkinson disease.
Identifieur interne : 000947 ( PubMed/Corpus ); précédent : 000946; suivant : 000948Translation 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 [ 1537-6605 ] ; 2011.
English descriptors
- KwdEn :
- Base Sequence, Chromosomes, Human, Pair 3 (genetics), Cloning, Molecular, DNA Copy Number Variations, DNA Mutational Analysis, Eukaryotic Initiation Factor-4G (genetics), Flow Cytometry, Genetic Linkage, Genotype, Humans, Immunoprecipitation, Mitochondria (physiology), Molecular Sequence Data, Mutation, Missense (genetics), Parkinson Disease (genetics), Pedigree, Protein Biosynthesis (genetics).
- MESH :
- chemical , genetics : Eukaryotic Initiation Factor-4G.
- genetics : Chromosomes, Human, Pair 3, Mutation, Missense, Parkinson Disease, Protein Biosynthesis.
- physiology : Mitochondria.
- Base Sequence, Cloning, Molecular, DNA Copy Number Variations, DNA Mutational Analysis, Flow Cytometry, Genetic Linkage, Genotype, Humans, Immunoprecipitation, Molecular Sequence Data, Pedigree.
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.
DOI: 10.1016/j.ajhg.2011.08.009
PubMed: 21907011
Links to Exploration step
pubmed:21907011Le document en format XML
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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></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2011">2011</date><idno type="RBID">pubmed:21907011</idno><idno type="pmid">21907011</idno><idno type="doi">10.1016/j.ajhg.2011.08.009</idno><idno type="wicri:Area/PubMed/Corpus">000947</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000947</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">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><nlm:affiliation>Université Lille Nord de France.</nlm:affiliation></affiliation></author><author><name sortKey="Dachsel, Justus C" sort="Dachsel, Justus C" uniqKey="Dachsel J" first="Justus C" last="Dachsel">Justus C. Dachsel</name></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></author><author><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J" last="Lincoln">Sarah J. Lincoln</name></author><author><name sortKey="Lepretre, Frederic" sort="Lepretre, Frederic" uniqKey="Lepretre F" first="Frédéric" last="Leprêtre">Frédéric Leprêtre</name></author><author><name sortKey="Hulihan, Mary M" sort="Hulihan, Mary M" uniqKey="Hulihan M" first="Mary M" last="Hulihan">Mary M. Hulihan</name></author><author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name></author><author><name sortKey="Milnerwood, Austen J" sort="Milnerwood, Austen J" uniqKey="Milnerwood A" first="Austen J" last="Milnerwood">Austen J. Milnerwood</name></author><author><name sortKey="Tapia, Lucia" sort="Tapia, Lucia" uniqKey="Tapia L" first="Lucia" last="Tapia">Lucia Tapia</name></author><author><name sortKey="Song, Mee Sook" sort="Song, Mee Sook" uniqKey="Song M" first="Mee-Sook" last="Song">Mee-Sook Song</name></author><author><name sortKey="Le Rhun, Emilie" sort="Le Rhun, Emilie" uniqKey="Le Rhun E" first="Emilie" last="Le Rhun">Emilie Le Rhun</name></author><author><name sortKey="Mutez, Eugenie" sort="Mutez, Eugenie" uniqKey="Mutez E" first="Eugénie" last="Mutez">Eugénie Mutez</name></author><author><name sortKey="Larvor, Lydie" sort="Larvor, Lydie" uniqKey="Larvor L" first="Lydie" last="Larvor">Lydie Larvor</name></author><author><name sortKey="Duflot, Aurelie" sort="Duflot, Aurelie" uniqKey="Duflot A" first="Aurélie" last="Duflot">Aurélie Duflot</name></author><author><name sortKey="Vanbesien Mailliot, Christel" sort="Vanbesien Mailliot, Christel" uniqKey="Vanbesien Mailliot C" first="Christel" last="Vanbesien-Mailliot">Christel Vanbesien-Mailliot</name></author><author><name sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name></author><author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name></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></author><author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A" last="Cobb">Stephanie A. Cobb</name></author><author><name sortKey="Melrose, Heather L" sort="Melrose, Heather L" uniqKey="Melrose H" first="Heather L" last="Melrose">Heather L. Melrose</name></author><author><name sortKey="Behrouz, Bahareh" sort="Behrouz, Bahareh" uniqKey="Behrouz B" first="Bahareh" last="Behrouz">Bahareh Behrouz</name></author><author><name sortKey="Keeling, Brett H" sort="Keeling, Brett H" uniqKey="Keeling B" first="Brett H" last="Keeling">Brett H. Keeling</name></author><author><name sortKey="Bacon, Justin A" sort="Bacon, Justin A" uniqKey="Bacon J" first="Justin A" last="Bacon">Justin A. Bacon</name></author><author><name sortKey="Hentati, Emna" sort="Hentati, Emna" uniqKey="Hentati E" first="Emna" last="Hentati">Emna Hentati</name></author><author><name sortKey="Williams, Lindsey" sort="Williams, Lindsey" uniqKey="Williams L" first="Lindsey" last="Williams">Lindsey Williams</name></author><author><name sortKey="Yanagiya, Akiko" sort="Yanagiya, Akiko" uniqKey="Yanagiya A" first="Akiko" last="Yanagiya">Akiko Yanagiya</name></author><author><name sortKey="Sonenberg, Nahum" sort="Sonenberg, Nahum" uniqKey="Sonenberg N" first="Nahum" last="Sonenberg">Nahum Sonenberg</name></author><author><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J" last="Lockhart">Paul J. Lockhart</name></author><author><name sortKey="Zubair, Abba C" sort="Zubair, Abba C" uniqKey="Zubair A" first="Abba C" last="Zubair">Abba C. Zubair</name></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J" last="Uitti">Ryan J. Uitti</name></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name></author><author><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name></author><author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K" last="Wszolek">Zbigniew K. Wszolek</name></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></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name></author></analytic><series><title level="j">American journal of human genetics</title><idno type="eISSN">1537-6605</idno><imprint><date when="2011" type="published">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Base Sequence</term><term>Chromosomes, Human, Pair 3 (genetics)</term><term>Cloning, Molecular</term><term>DNA Copy Number Variations</term><term>DNA Mutational Analysis</term><term>Eukaryotic Initiation Factor-4G (genetics)</term><term>Flow Cytometry</term><term>Genetic Linkage</term><term>Genotype</term><term>Humans</term><term>Immunoprecipitation</term><term>Mitochondria (physiology)</term><term>Molecular Sequence Data</term><term>Mutation, Missense (genetics)</term><term>Parkinson Disease (genetics)</term><term>Pedigree</term><term>Protein Biosynthesis (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Eukaryotic Initiation Factor-4G</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 3</term><term>Mutation, Missense</term><term>Parkinson Disease</term><term>Protein Biosynthesis</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Mitochondria</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Base Sequence</term><term>Cloning, Molecular</term><term>DNA Copy Number Variations</term><term>DNA Mutational Analysis</term><term>Flow Cytometry</term><term>Genetic Linkage</term><term>Genotype</term><term>Humans</term><term>Immunoprecipitation</term><term>Molecular Sequence Data</term><term>Pedigree</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><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">21907011</PMID><DateCreated><Year>2011</Year><Month>09</Month><Day>12</Day></DateCreated><DateCompleted><Year>2011</Year><Month>11</Month><Day>22</Day></DateCompleted><DateRevised><Year>2016</Year><Month>10</Month><Day>19</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1537-6605</ISSN><JournalIssue CitedMedium="Internet"><Volume>89</Volume><Issue>3</Issue><PubDate><Year>2011</Year><Month>Sep</Month><Day>09</Day></PubDate></JournalIssue><Title>American journal of human genetics</Title><ISOAbbreviation>Am. J. Hum. Genet.</ISOAbbreviation></Journal><ArticleTitle>Translation initiator EIF4G1 mutations in familial Parkinson disease.</ArticleTitle><Pagination><MedlinePgn>398-406</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ajhg.2011.08.009</ELocationID><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Chartier-Harlin</LastName><ForeName>Marie-Christine</ForeName><Initials>MC</Initials><AffiliationInfo><Affiliation>Université Lille Nord de France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dachsel</LastName><ForeName>Justus C</ForeName><Initials>JC</Initials></Author><Author ValidYN="Y"><LastName>Vilariño-Güell</LastName><ForeName>Carles</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Lincoln</LastName><ForeName>Sarah J</ForeName><Initials>SJ</Initials></Author><Author ValidYN="Y"><LastName>Leprêtre</LastName><ForeName>Frédéric</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Hulihan</LastName><ForeName>Mary M</ForeName><Initials>MM</Initials></Author><Author ValidYN="Y"><LastName>Kachergus</LastName><ForeName>Jennifer</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Milnerwood</LastName><ForeName>Austen J</ForeName><Initials>AJ</Initials></Author><Author ValidYN="Y"><LastName>Tapia</LastName><ForeName>Lucia</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Song</LastName><ForeName>Mee-Sook</ForeName><Initials>MS</Initials></Author><Author ValidYN="Y"><LastName>Le Rhun</LastName><ForeName>Emilie</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Mutez</LastName><ForeName>Eugénie</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Larvor</LastName><ForeName>Lydie</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Duflot</LastName><ForeName>Aurélie</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Vanbesien-Mailliot</LastName><ForeName>Christel</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Kreisler</LastName><ForeName>Alexandre</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Ross</LastName><ForeName>Owen A</ForeName><Initials>OA</Initials></Author><Author ValidYN="Y"><LastName>Nishioka</LastName><ForeName>Kenya</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Soto-Ortolaza</LastName><ForeName>Alexandra I</ForeName><Initials>AI</Initials></Author><Author ValidYN="Y"><LastName>Cobb</LastName><ForeName>Stephanie A</ForeName><Initials>SA</Initials></Author><Author ValidYN="Y"><LastName>Melrose</LastName><ForeName>Heather L</ForeName><Initials>HL</Initials></Author><Author ValidYN="Y"><LastName>Behrouz</LastName><ForeName>Bahareh</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Keeling</LastName><ForeName>Brett H</ForeName><Initials>BH</Initials></Author><Author ValidYN="Y"><LastName>Bacon</LastName><ForeName>Justin A</ForeName><Initials>JA</Initials></Author><Author ValidYN="Y"><LastName>Hentati</LastName><ForeName>Emna</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Williams</LastName><ForeName>Lindsey</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Yanagiya</LastName><ForeName>Akiko</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Sonenberg</LastName><ForeName>Nahum</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Lockhart</LastName><ForeName>Paul J</ForeName><Initials>PJ</Initials></Author><Author ValidYN="Y"><LastName>Zubair</LastName><ForeName>Abba C</ForeName><Initials>AC</Initials></Author><Author ValidYN="Y"><LastName>Uitti</LastName><ForeName>Ryan J</ForeName><Initials>RJ</Initials></Author><Author ValidYN="Y"><LastName>Aasly</LastName><ForeName>Jan O</ForeName><Initials>JO</Initials></Author><Author ValidYN="Y"><LastName>Krygowska-Wajs</LastName><ForeName>Anna</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Opala</LastName><ForeName>Grzegorz</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Wszolek</LastName><ForeName>Zbigniew K</ForeName><Initials>ZK</Initials></Author><Author ValidYN="Y"><LastName>Frigerio</LastName><ForeName>Roberta</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Maraganore</LastName><ForeName>Demetrius M</ForeName><Initials>DM</Initials></Author><Author ValidYN="Y"><LastName>Gosal</LastName><ForeName>David</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Lynch</LastName><ForeName>Tim</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Hutchinson</LastName><ForeName>Michael</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Bentivoglio</LastName><ForeName>Anna Rita</ForeName><Initials>AR</Initials></Author><Author ValidYN="Y"><LastName>Valente</LastName><ForeName>Enza Maria</ForeName><Initials>EM</Initials></Author><Author ValidYN="Y"><LastName>Nichols</LastName><ForeName>William C</ForeName><Initials>WC</Initials></Author><Author ValidYN="Y"><LastName>Pankratz</LastName><ForeName>Nathan</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Foroud</LastName><ForeName>Tatiana</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Gibson</LastName><ForeName>Rachel A</ForeName><Initials>RA</Initials></Author><Author ValidYN="Y"><LastName>Hentati</LastName><ForeName>Faycal</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Dickson</LastName><ForeName>Dennis W</ForeName><Initials>DW</Initials></Author><Author ValidYN="Y"><LastName>Destée</LastName><ForeName>Alain</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Farrer</LastName><ForeName>Matthew J</ForeName><Initials>MJ</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>R01 ES010751</GrantID><Acronym>ES</Acronym><Agency>NIEHS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>P50 NS040256</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>P50 NS40256</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01NS37167</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>P01 NS040256</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>2R01 ES10751</GrantID><Acronym>ES</Acronym><Agency>NIEHS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>P50 NS072187</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 NS037167</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>NS072187</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Hum Genet</MedlineTA><NlmUniqueID>0370475</NlmUniqueID><ISSNLinking>0002-9297</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C113920">EIF4G1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D039603">Eukaryotic Initiation Factor-4G</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Lancet Neurol. 2006 Jun;5(6):525-35</RefSource><PMID Version="1">16713924</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Bioinformatics. 2005 Feb 15;21(4):557-9</RefSource><PMID Version="1">15374870</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Rev Genet. 2007 Sep;8(9):711-23</RefSource><PMID Version="1">17680008</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Cell Biol. 2008 Apr 21;181(2):293-307</RefSource><PMID Version="1">18426977</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann N Y Acad Sci. 2008 Dec;1147:93-104</RefSource><PMID Version="1">19076434</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Cell. 2009 Feb 20;136(4):731-45</RefSource><PMID Version="1">19239892</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Cell Biol. 2009 Mar;29(6):1661-9</RefSource><PMID Version="1">19114555</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Rev Mol Cell Biol. 2009 May;10(5):307-18</RefSource><PMID Version="1">19339977</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Cell Biol. 2009 Jul;11(7):903-8</RefSource><PMID Version="1">19525934</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Exp Neurol. 2009 Aug;218(2):235-46</RefSource><PMID Version="1">19303005</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Sci Signal. 2009;2(80):ra36</RefSource><PMID Version="1">19622833</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann N Y Acad Sci. 2009 Jul;1170:615-22</RefSource><PMID Version="1">19686202</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Neurosci. 2009 Sep;12(9):1129-35</RefSource><PMID Version="1">19684592</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Lancet Neurol. 2009 Dec;8(12):1150-7</RefSource><PMID Version="1">19909913</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nature. 2010 Jul 29;466(7306):637-41</RefSource><PMID Version="1">20671708</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neuron. 2010 Oct 21;68(2):201-6</RefSource><PMID Version="1">20955928</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2011 Jul 15;89(1):162-7</RefSource><PMID Version="1">21763482</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2000 Nov;15(6):1075-83</RefSource><PMID Version="1">11104189</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Hered. 2001;52(3):121-31</RefSource><PMID Version="1">11588394</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Biol Cell. 2003 May-Jun;95(3-4):141-56</RefSource><PMID Version="1">12867079</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 1989 Jun;86(11):4175-8</RefSource><PMID Version="1">2726769</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Science. 1997 Jun 27;276(5321):2045-7</RefSource><PMID Version="1">9197268</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nature. 1997 Aug 28;388(6645):839-40</RefSource><PMID Version="1">9278044</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Arch Neurol. 1999 Jan;56(1):33-9</RefSource><PMID Version="1">9923759</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 2006 Aug 11;281(32):22917-32</RefSource><PMID Version="1">16766523</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D001483" MajorTopicYN="N">Base Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002893" MajorTopicYN="N">Chromosomes, Human, Pair 3</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D003001" MajorTopicYN="N">Cloning, Molecular</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D056915" MajorTopicYN="N">DNA Copy Number Variations</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D039603" MajorTopicYN="N">Eukaryotic Initiation Factor-4G</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005434" MajorTopicYN="N">Flow Cytometry</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008040" MajorTopicYN="N">Genetic Linkage</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D047468" MajorTopicYN="N">Immunoprecipitation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008928" MajorTopicYN="N">Mitochondria</DescriptorName><QualifierName UI="Q000502" MajorTopicYN="N">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008969" MajorTopicYN="N">Molecular Sequence Data</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020125" MajorTopicYN="N">Mutation, Missense</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D014176" MajorTopicYN="N">Protein 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