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* ; Schulte, C.* ; Reinthaler, E.* ; Haubenberger, D.* ; Balzar, J.* ; Lichtner, P. ; El Tawil, S.* ; Edrise, S.* ; Foki, T.* ; Pirker, W.* ; Katzenschlager, R.* ; Daniel, G.* ; Brücke, T.* ; Auff, E.* ; Gasser, T.*

PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease.

Parkinsonism Relat. Disord. 15, 532-534 (2009)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
The GIGYF2 (Grb10-Interacting GYF Protein-2) gene has recently been proposed to be the responsible gene for the PARK11 locus. Ten different putative pathogenic variants were identified in cohorts of Parkinson's disease (PD) patients from Italy and France. Among these variants Asn56Ser and Asn457Thr were found repeatedly. In the present study we screened 669 PD patients (predominantly of central European origin) and 1051 control individuals for the presence of these two variants. Asn56Ser was found in one patient with a positive family history of the disease and in one control individual. The affected sister of the patient did not carry this variant. Asn457Thr was found in one patient, who was exceptional for his Egyptian origin and in three control individuals. This variant was not found in 50 control individuals from Egypt. We conclude that neither of these two variants plays a major role in the pathogenesis of PD in our study population.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter GIGYF2; PARK11; genome-wide scan; linkage analysis; mutations; families; insulin; sample; screen; onset
Sprache englisch
Veröffentlichungsjahr 2009
HGF-Berichtsjahr 2010
ISSN (print) / ISBN 1353-8020
e-ISSN 1873-5126
Zeitschrift Parkinsonism & Related Disorders
Quellenangaben Band: 15, Heft: 7, Seiten: 532-534 Artikelnummer: , Supplement: ,
Verlag Elsevier
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500700-001
G-500700-003
PubMed ID 19250854
DOI 10.1016/j.parkreldis.2009.01.005
Scopus ID 67650751857
Erfassungsdatum 2009-12-31
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