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.

GIGYF2 mutations are not a frequent cause of familial Parkinson's disease.

LOPIANO, Leonardo;
2009-01-01

Abstract

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.
2009
15
703
705
http://dx.doi.org/10.1016/j.parkreldis.2009.05.001
Adult; Aged; Carrier Proteins; Humans; Middle Aged; Mutation; Parkinson Disease; Pedigree
A. D. Fonzo;E. Fabrizio;A. Thomas;E. Fincati;R. Marconi;M. Tinazzi;G. J. Breedveld;E. J. Simons;H. F. Chien;J. J. Ferreira;M. W. Horstink;G. Abbruzzese;B. Borroni;G. Cossu;A. D. Libera;G. Fabbrini;M. Guidi;M. D. Mari;L. Lopiano;E. Martignoni;P. Marini;M. Onofrj;A. Padovani;F. Stocchi;V. Toni;C. Sampaio;E. R. Barbosa;G. Meco;I. P. Genetics Network;B. A. Oostra;V. Bonifati
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/88351
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