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Schulte, E.C. ; Mollenhauer, B.* ; * ; Bereznai, B.* ; Lichtner, P. ; Haubenberger, D.* ; Pirker, W.* ; Brücke, T.* ; Molnar, M.J.* ; Peters, A. ; Gieger, C. ; Trenkwalder, C.* ; Winkelmann, J.

Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease.

Neurogenetics 13, 281-285 (2012)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Recently, mutations in eukaryotic translation initiation factor 4G1 (EIF4G1) were reported as a rare cause of familial Parkinson's disease (PD). We screened the 33 exons of EIF4G1 by high-resolution melting curve analysis for variants in our Central European cohort of 376 PD cases. Variant frequency was assessed in a total of 975 PD cases and 1,014 general population controls. Eight novel nonsynonymous and four synonymous variants were identified. In our cohort, novel and previously identified nonsynonymous variants were very rare. Although it is possible that our general population controls also comprise individuals who have or could develop PD in the future, the presence of the original mutation (EIF4G1 p.Arg1205 His) in three controls only, raises questions about the causality of this variant with regard to PD.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Genetics ; Rare Variants ; Parkinson's Disease ; Eif4g1; Mutations
Language english
Publication Year 2012
HGF-reported in Year 2012
ISSN (print) / ISBN 1364-6745
e-ISSN 1364-6753
Journal Neurogenetics
Quellenangaben Volume: 13, Issue: 3, Pages: 281-285 Article Number: , Supplement: ,
Publisher Springer
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
Institute of Epidemiology (EPI)
Institute of Genetic Epidemiology (IGE)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30202 - Environmental Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
G-504000-001
G-504100-001
PubMed ID 22707335
DOI 10.1007/s10048-012-0334-9
WOS ID WOS:000307520500012
Scopus ID 84865021853
Erfassungsdatum 2012-09-21
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