Article
Translation initiator EIF4G1 mutations in familial Parkinson disease.
American journal of human genetics - 9 Sept 2011
Chartier-Harlin Marie-Christine, Dachsel Justus C, Vilariño-Güell Carles, Lincoln Sarah J, Leprêtre Frédéric, Hulihan Mary M, Kachergus Jennifer, Milnerwood Austen J, Tapia Lucia, Song Mee-Sook, Le Rhun Emilie, Mutez Eugénie, Larvor Lydie, Duflot Aurélie, Vanbesien-Mailliot Christel, Kreisler Alexandre, Ross Owen A, Nishioka Kenya, Soto-Ortolaza Alexandra I, Cobb Stephanie A, Melrose Heather L, Behrouz Bahareh, Keeling Brett H, Bacon Justin A, Hentati Emna, Williams Lindsey, Yanagiya Akiko, Sonenberg Nahum, Lockhart Paul J, Zubair Abba C, Uitti Ryan J, Aasly Jan O, Krygowska-Wajs Anna, Opala Grzegorz, Wszolek Zbigniew K, Frigerio Roberta, Maraganore Demetrius M, Gosal David, Lynch Tim, Hutchinson Michael, Bentivoglio Anna Rita, Valente Enza Maria, Nichols William C, Pankratz Nathan, Foroud Tatiana, Gibson Rachel A, Hentati Faycal, Dickson Dennis W, Destée Alain, Farrer Matthew J
Abstract excerpt
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...
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