Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism

Chinese Journal of Medical Genetics

Volumn 22, Issue 6, 2005, Pages 641-643

  Guo, Ji Feng ^a   Tang, Bei Sha ^a   Zhang, Yu Hu ^a   Xia, Kun ^b   Cai, Fang ^b   Pan, Qian ^b   Shen, Lu ^a   Jiang, Hong ^a   Zhao, Guo Hua ^a   Yan, Xin Xiang ^a   Cao, Li ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Autosomal recessive early onset Parkinsonism; DJ1 gene; Gene mutation

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHINESE; DNA POLYMORPHISM; DNA SEQUENCE; GENE MUTATION; HUMAN; PARKINSONISM; POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; AGE OF ONSET; BASE SEQUENCE; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION; ONCOGENE PROTEINS; PARKINSONIAN DISORDERS; POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 29244485554     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. Bonifati V, Rizzu P, van Baren MJ, et al. Mutations in the DJ1 gene associated with autosomal recessive early-onset parkinsonism. Science, 2003, 299:256-259.
2. Abou-Sleiman PM, Healy DG, Quinn N, et al. The role of pathogenic DJ1 mutations in Parkinson's disease. Ann Neurol, 2003, 54:283-286.
3. Hague S, Rogaeva E, Hernandez D, et al. Early-onset Parkinson's disease caused by compound heterozygous DJ1 mutation. Ann Neurol, 2003, 54:271-274.
4. Hedrich K, Djarmati A, Schafer N, et al. DJ1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology, 2004, 62:389-394.
5. Bonifati V, Oostra BA, Heutink P. Linking DJ1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease. J Mol Med, 2004, 82:163-174.
6. Lockhart PJ, Bounds R, Hulihan M, et al. Lack of mutations in DJ1 in a cohort of taiwanese ethnic Chinese with early-onset parkinsonism. Mov Disord, 2004, 19:1065-1069.
7. Tan EK, Tan C, Zhao Y, et al. Genetic analysis of DJ1 in a cohort Parkinson's disease patients of different ethnicity. Neurosci Lett, 2004, 367:109-112.
8. Morris CM, O'Brien KK, Gibson AM, et al. Polymorphism in the human DJ1 gene is not associated with sporadic dementia with Lewy bodies or Parkinson's disease. Neurosci Lett, 2003, 352:151-153.
9. Eerola J, Hernandez D, Launes J, et al. Assessment of a DJ1 (PARK7) polymorphism in Finnish PD. Neurology, 2003, 61:1000-1002.
10. Macedo MG, Anar B, Bronner IF, et al. The DJ1 L166P mutant protein associated with early onset Parkinson s disease is unstable and forms higher order protein complexes. Hum Mol Genet, 2003, 12:2807-2816.
11. Tao X, Tong L. Crystal structure of human DJ-1, a protein associated with early-onset Parkinson's disease. J Biol Chem, 2003, 278:31372-31379.