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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Translation initiator EIF4G1 mutations in familial parkinson disease
American Journal of Human Genetics, Volume 89, No. 3, Year 2011
Notification
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Description
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. © 2011 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3169825/bin/mmc1.pdf
Authors & Co-Authors
Chartier-Harlin, Marie Christine
France, Lille
Université de Lille
France, Paris
Inserm
Dächsel, Justus C.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Vilarino-Guell, Carles
Canada, Vancouver
The University of British Columbia
Lincoln, Sarah J.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Leprêtre, Frédéric
France, Lille
Université de Lille
France, Paris
Inserm
Hulihan, Mary M.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Kachergus, Jennifer M.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Milnerwood, Austen J.
Canada, Vancouver
The University of British Columbia
Tapia, Lucia
Canada, Vancouver
The University of British Columbia
Song, Mee Sook
Canada, Vancouver
The University of British Columbia
Le Rhun, Emilie
France, Lille
Chu Lille
Mutez, Eugénie
France, Lille
Université de Lille
France, Paris
Inserm
France, Lille
Chu Lille
Larvor, Lydie
France, Lille
Université de Lille
France, Paris
Inserm
Duflot, Aurélie
France, Lille
Université de Lille
France, Paris
Inserm
Vanbesien-Mailliot, Christel
France, Lille
Université de Lille
France, Paris
Inserm
Kreisler, Alexandre
France, Lille
Université de Lille
France, Paris
Inserm
France, Lille
Chu Lille
Ross, Owen A.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Nishioka, Kenya
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Soto-Ortolaza, Alexandra I.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Cobb, Stephanie A.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Melrose, Heather L.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Behrouz, Bahareh
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Keeling, Brett H.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Bacon, Justin A.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Hentati, Emna
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Williams, Lindsey
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Yanagiya, Akiko
Canada, Montreal
Rosalind and Morris Goodman Cancer Research Centre
Sonenberg, Nahum
Canada, Montreal
Rosalind and Morris Goodman Cancer Research Centre
Lockhart, Paul J.
Australia, Melbourne
Murdoch Children's Research Institute
Zubair, Abba C.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Uitti, Ryan J.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Aasly, Jan Olav
Norway, Trondheim
Universitetssykehuset I Trondheim
Krygowska-Wajs, Anna
Poland, Krakow
Jagiellonian University Medical College
Opala, Grzegorz M.
Poland, Katowice
Slaski Uniwersytet Medyczny w Katowicach
Wszołek, Zbigniew K.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Frigerio, Roberta
United States, Rochester
Mayo Clinic
Maraganore, Demetrius M.
United States, Rochester
Mayo Clinic
Gosal, David
Ireland, Dublin
Mater Misericordiae University Hospital
Lynch, Timothy L.
Ireland, Dublin
Mater Misericordiae University Hospital
Ireland, Dublin
University College Dublin
Hutchinson, Michael
Ireland, Dublin
St Vincent's University Hospital
Bentivoglio, Anna Rita
Italy, Rome
Università Cattolica Del Sacro Cuore, Campus Di Roma
Valente, Enza Maria
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Messina
Università Degli Studi Di Messina
Nichols, William C.
United States, Cincinnati
Cincinnati Children's Hospital Medical Center
Pankratz, Nathan D.
United States, Indianapolis
Indiana University-purdue University Indianapolis
Foroud, Tatiana M.
United States, Indianapolis
Indiana University-purdue University Indianapolis
Gibson, Rachel A.
United Kingdom, Brentford
Glaxosmithkline Plc.
Hentati, F. F.
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Dickson, Dennis W.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Destée, Alain
France, Lille
Université de Lille
France, Paris
Inserm
France, Lille
Chu Lille
Farrer, Matthew J.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Canada, Vancouver
The University of British Columbia
Statistics
Citations: 298
Authors: 50
Affiliations: 21
Identifiers
Doi:
10.1016/j.ajhg.2011.08.009
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Cancer
Genetics And Genomics