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


Autoria(s): FONZO, Alessio Di; FABRIZIO, Edito; THOMAS, Astrid; FINCATI, Emiliana; MARCONI, Roberto; TINAZZI, Michele; BREEDVELD, Guido J.; SIMONS, Erik J.; CHIEN, Hsin F.; FERREIRA, Joaquim J.; HORSTINK, Martin W.; ABBRUZZESE, Giovanni; BORRONI, Barbara; COSSU, Giovanni; LIBERA, Alessio Dalla; FABBRINI, Giovanni; GUIDI, Marco; MARI, Michele De; LOPIANO, Leonardo; MARTIGNONI, Emilia; MARINI, Paolo; ONOFRJ, Marco; PADOVANI, Alessandro; STOCCHI, Fabrizio; TONI, Vincenzo; SAMPAIO, Cristina; BARBOSA, Egberto R.; MECO, Giuseppe; OOSTRA, Ben A.; BONIFATI, Vincenzo; Italian Parkinson Genetics Network
Contribuinte(s)

UNIVERSIDADE DE SÃO PAULO

Data(s)

19/10/2012

19/10/2012

2009

Resumo

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. (C) 2009 Elsevier Ltd. All rights reserved.

Erasmus MC Rotterdam

Netherlands Organization for Scientific Research

Identificador

PARKINSONISM & RELATED DISORDERS, v.15, n.9, p.703-705, 2009

1353-8020

http://producao.usp.br/handle/BDPI/21216

10.1016/j.parkreldis.2009.05.001

http://dx.doi.org/10.1016/j.parkreldis.2009.05.001

Idioma(s)

eng

Publicador

ELSEVIER SCI LTD

Relação

Parkinsonism & Related Disorders

Direitos

restrictedAccess

Copyright ELSEVIER SCI LTD

Palavras-Chave #Parkinson`s disease #Genetics #PARK11 #GIGYF2 #Mutation #LOCUS #GENE #Clinical Neurology
Tipo

article

original article

publishedVersion