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LRRK2基因的基本特征及各种常见突变位点与帕金森病的关系 被引量:2

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作者 郑瑾 孙圣刚
出处 《神经损伤与功能重建》 2009年第5期363-365,共3页 Neural Injury and Functional Reconstruction
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参考文献23

  • 1Tan EK, Skipper L, Chua E, et al. Analysis of 14 LRRK2 Mutations in Parkinson's Plus Syndromes and Late-Onset Parkinson's Disease[J]. Mov Disord(S0885-3185), 2006, 21 (7): 997-1001.
  • 2Paisan-Ruiz C, Lang AE, Kawarai T, et al. LRRK2 gene in Parkinson Disease: Mutation Analysis and Case Control Association Study[J].Neurology(S0028- 3878), 2005, 65 (5):696-700.
  • 3Guo L, Wang W, Chen SG. Leucine-rich Repeat Kinase 2: Relevance to Parkinson's Disease[J]. Int J Biochem Cell Biol (S1357-2725), 2006, 38(9) :1469-1475.
  • 4Li X, Tan YC, Poulose S, et al. Leucine-rich Repeat Kinase 2 (LRRK2)/PARK 8 Possesses GTPase Activity that is Altered in Familial Parkinson's Disease R1441C/G Mutants[J]. J Neurochem(S0022-3042), 2007, 103(1) : 238-247.
  • 5Hatano T,Kubo S, Imai S,et al. Leucine-rich Repeat Kinase 2 Associates with Lipid Raits[J]. Hum Mol Genet(S0964- 6906), 2007, 16(6):678-690.
  • 6West AB, Moore DJ, Choi C,et al. Parkinson's Disease Asso ciated Mutations in LRRK2 Link Enhanced GTP-binding and Kinase Activities to Neuronal Toxicity[J]. Hum Mol Genet (S0964-6906), 2007,16(2) :223-232.
  • 7Christian JG, Norbert K, Annette S,et al. The Parkinson Disease Causing LRRK2 Mutation I2020T is Associated with Increased Kinase Activity[J]. Hum Mol Genet(S0964-6906), 2006, 15(2)~ 223-232.
  • 8Greggio E, Jain S, Kingsbury A, et al. Kinase Activity is Required for the Toxic Effects of Mutant LRRK2/dardarin[J]. Neurobiol Dis(S0969-9961), 2006, 23(2):329-341.
  • 9Deng H,Le WD,Guo Y, et al. Genetic and Clinical Identification of Parkinson's Disease Patients with LRRK2 G2019S Mu ration[J]. Ann Neurol(S0364-5134),2005, 57(6): 933- 934.
  • 10Lesage S, Leutenegger AL, Ibanez P, et al. LRRK2 Haplotype Analyses in European and North African Families with Parkinson Disease: A Common Founder for the G2019S Mutation Dating from the 13th Century[J]. Am J Hum Genet (S0002-9297),2005, 77(2) : 330-332.

同被引文献29

  • 1Healy DG,Falchi M,O′Sullivan SS,et al.Phenotype,genotype,and worldwide genetic penetrance of LRRK2-associated Parkinson′s disease:a case-control study[J].Lancet Neurol,2008,7(7):583-590.
  • 2Maekawa T,Kubo M,Yokoyama I,et al.Age-dependent and cell-population-restricted LRRK2 expression in normalmouse spleen[J].Biochem Biophys Res Commun,2010,392(3):431-435.
  • 3Bosgraaf L,Van Haastert PJ.Roc,a Ras/GTPase domain in complex proteins[J].Biochem Biophys Acta,2003,1643(1/3):5-10.
  • 4Gloeckner CJ,Schumacher A,Boldt K,et al.The Parkinson disease-associated protein kinase LRRK2 exhibits MAPKKK activity phosphorylares MKK3/6 and MKK4/7,in vitro[J].J Neurochem,2009,109(4):959-968.
  • 5Ding X,Goldberg MS.Regulation of LRRK2 stability by the E3 ubiquitin ligase CHIP[J].PLoS One,2009,4(6):e5949.
  • 6Wang L,Xie C,Greggio E,et al.The chaperone activity of heat shock protein 90 is critical for maintaining the stability of leucine-rich repeat kinase 2[J].J Neurosci,2008,28(13):3384-3391.
  • 7Cho JW,Kim SY,Park SS,et al.The G2019S LRRK2 mutation is rare in Korean patients with Parkinson′s Disease and Multiple System Atrophy[J].J Clin Neurol,2009,5(1):29-32.
  • 8Tan EK,Peng R,Wu YR,et al.LRRK2 G2385R modulates age at onset in Parkinson′s disease:A multi-center pooled analysis[J].Am J Med Genet B Neuropsychiatr Genet,2009,1508(7):1022-1023.
  • 9Mata IF,Wedemeyer WJ,Farrer MJ,et al.LRRK2 in Parkinson′ s disease:protein domains and functional insights[J].Trends Neurosci,2006,29 (5):286-293.
  • 10Moore DJ.The biology and pathobiology of LRRK2:implications for Parkinson′s disease[J].Parkinsonism Relat Disord,2008,14(Suppl 2):S92-98.

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