@article{ed1da9e9ff4e4b6fbcecc2d923a3ff4a,
title = "GIGYF2 Asn56Ser and Asn457Thr mutations in Parkinson disease patients",
abstract = "Parkinson disease (PD) is one of the most common neurodegenerative disorders with major clinical features of bradykinesia, rigidity, resting tremor, and postural instability. At least thirteen gene loci responsible for PD or parkinsonism have been found and nine causative genes have been identified. Recently, Asn56Ser or Asn457Thr mutations in the Grb10-Interacting GYF Protein-2 gene (GIGYF2) were found to occur in about 2.4% familial PD Italian and French patients. We conducted genetic examination of Asn56Ser or Asn457Thr mutations, but none was found in 310 PD patients from North America. We did identify a non-disease-associated polymorphism Pro460Thr. Our results suggest that the GIGYF2 Asn56Ser and Asn457Thr mutations are a rare cause of PD in North American Caucasian population.",
keywords = "Asn457Thr, Asn56Ser, Mutation, Parkinson disease, The Grb10-Interacting GYF Protein-2 gene",
author = "Yi Guo and Joseph Jankovic and Shaihong Zhu and Weidong Le and Zhi Song and Wenjie Xie and Daoguang Liao and Huarong Yang and Hao Deng",
note = "Funding Information: This study was supported by the Fund of Hunan Province for Distinguished Young Scholar (H.D.), Sheng Hua Scholars Program and Outstanding Youth Foundation of Central South University, China (H.D.), National Natural Science Foundation of China (30871351; H.D.), Program for New Century Excellent Talents in University of Ministry of Education of P.R. China (H.D.), the Project Sponsored by the Scientific Research Foundation for the Returned Overseas Chinese Scholars, State Education Ministry (H.D.), Parkinson's and Movement Disorder Foundation (H.D.) the Helis Foundation (W.L.) and the National Parkinson Foundation to the Baylor College of Medicine Center of Excellence (J.J.). The authors thank the participating patients and the investigators at the Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, for their cooperation and their efforts in collecting the genetic information and DNA specimens.",
year = "2009",
month = may,
day = "1",
doi = "10.1016/j.neulet.2009.03.039",
language = "English (US)",
volume = "454",
pages = "209--211",
journal = "Neuroscience Letters",
issn = "0304-3940",
publisher = "Elsevier Ireland Ltd",
number = "3",
}