GIGYF2

详细信息    查看全文

• 作者：Alessio Di Fonzo ; Edito Fabrizio ; Astrid Thomas ; Emiliana Fincati ; Roberto Marconi ; Michele Tinazzi ; Guido J. Breedveld ; Erik J. Simons ; Hsin F. Chien ; Joaquim J. Ferreira ; Martin W. Horstink ; Giovann
• 关键词：Parkinson's disease ; Genetics ; PARK11 ; GIGYF2 ; Mutation
• 刊名：Parkinsonism and Related Disorders
• 出版年：2009
• 出版时间：5 November 2009
• 年：2009
• 卷：15
• 期：9
• 页码：703-705
• 全文大小：120 K

文摘

Mutations in the Grb10-interacting GYF protein 2 (GIGYF2) gene, within the PARK11 locus, have been nominated as a cause of Parkinson's disease in Italian and French populations. By sequencing the whole GIGYF2 coding region in forty-six probands (thirty-seven Italians) with familial Parkinson's disease compatible with an autosomal dominant inheritance, we identified no mutations. Our data add to a growing body of evidence suggesting that GIGYF2 mutations are not a frequent cause of PD.