Literature DB >> 20603184

FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients.

Lin-zi Luo1, Qian Xu, Ji-feng Guo, Lei Wang, Chang-he Shi, Jiao-hua Wei, Zhi-gao Long, Qian Pan, Bei-sha Tang, Kun Xia, Xin-xiang Yan.   

Abstract

A recent study has shown that FBXO7 is a causative gene for PARK15-linked autosomal recessive early-onset Parkinsonism which was described by Davison for the first time in 1954 and known as Pallido-Pyramidal Disease or Parkinsonia-Pyramidal Syndrome in the past. In order to investigate the characteristics of FBXO7 gene mutations in Chinese early-onset Parkinsonism patients, we performed polymerase chain reaction and DNA direct sequencing on 135 patients and 200 controls. In this study, we found 10 polymorphisms including two novel polymorphisms (-274G-->C, c.A155G), but no pathogenetic mutations in the FBXO7 gene were detected. This suggests that FBXO7 mutations may be rare in Chinese early-onset Parkinsonism patients. (c) 2010 Elsevier Ireland Ltd. All rights reserved.

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Year:  2010        PMID: 20603184     DOI: 10.1016/j.neulet.2010.06.083

Source DB:  PubMed          Journal:  Neurosci Lett        ISSN: 0304-3940            Impact factor:   3.046


  4 in total

1.  Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene.

Authors:  Elena Radi; Patrizia Formichi; Giuseppe Di Maio; Carla Battisti; Antonio Federico
Journal:  J Cell Mol Med       Date:  2012-08       Impact factor: 5.310

2.  FBXO7 Y52C polymorphism as a potential protective factor in Parkinson's disease.

Authors:  Chiung-Mei Chen; I-Cheng Chen; Yi-Cheng Huang; Hsueh-Fen Juan; Ying-Lin Chen; Yi-Chun Chen; Chih-Hsin Lin; Li-Ching Lee; Chi-Mei Lee; Guey-Jen Lee-Chen; Yun-Ju Lai; Yih-Ru Wu
Journal:  PLoS One       Date:  2014-07-16       Impact factor: 3.240

3.  Genetic analysis of ATP13A2, PLA2G6 and FBXO7 in a cohort of Chinese patients with early-onset Parkinson's disease.

Authors:  Ting Shen; Jiali Pu; Hsin-Yi Lai; Lingjia Xu; Xiaoli Si; Yaping Yan; Yasi Jiang; Baorong Zhang
Journal:  Sci Rep       Date:  2018-09-19       Impact factor: 4.379

4.  Genetic basis of Parkinson's disease: inheritance, penetrance, and expression.

Authors:  Claudia Schulte; Thomas Gasser
Journal:  Appl Clin Genet       Date:  2011-06-01
  4 in total

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