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PINK1基因与帕金森病 被引量：1

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作者 卢翠玲 杨华丹 罗曙光
机构地区 广西医科大学第一附属医院神经内科
出处 《实用老年医学》 CAS 2009年第2期147-149,共3页 Practical Geriatrics
基金 广西自然科学基金资助项目(0832-139)
关键词 帕金森病 线粒体功能障碍 1基因 PARKINSON 兴奋性氨基酸毒性 泛素蛋白酶体 发病机制 神经元变性
分类号 R742.5 [医药卫生—神经病学与精神病学] R362 [医药卫生—病理学]
  • 相关文献

参考文献21

  • 1Valente EM, Bentivoglio AR, Dixon PH,et al. Localization of a novel locus for autosomal recessive early-onset parkinsonism. PARK6, on human chromosome lp35-p36 [ J ]. Am J Hum Genet,2001,68(4) :895-900.
  • 2Abou-Sleiman PM, Healy DG, Quinn N, et al. The role of pathogenic DJ-1 mutations in Parkinson's disease[J]. Ann Neurol,2003,54(3 ) :283-286.
  • 3Hatano Y, Li Y, Sato K, et al. Novel PINK1 mutations in early-onset parkinsonism [ J ]. Ann Neurol,2004,56 ( 3 ) :424-427.
  • 4Dauer W, Przedborski S. Parkinson' s disease : mechanisms and models [ J ]. Neuron, 2003,39 (6) : 889-909.
  • 5Valente EM, abou-sleiman PM, Caputo V, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1 [ J ]. Science, 2004,304(5674) : 1158-1160.
  • 6张玉虎,唐北沙,郭纪锋,夏昆,许波,蔡芳,邓汉湘,严新翔,陈涛,曹立,潘乾,龙志高.常染色体隐性遗传早发性帕金森综合征6型PINK1基因的突变分析[J].中华医学杂志,2005,85(22):1538-1541. 被引量：23
  • 7Unoki M, Nakamura Y. Growth-supressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway [ J ]. Oncogene, 2001, 20( 33 ) :4457-4465.
  • 8Grunewald A, Breedveld G J, Hedrich-Lohmann K, et al. Biological effects of the PINK1 c. 1366C > T mutation implications in Parkinson disease pathogenesis [ J ]. Neurogenetics, 2007,8 ( 2 ) : 103-109.
  • 9Li Y, Tomiyama H, Sato K, et al. Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism [ J ]. Neurology, 2005, 64(11) : 1955-1957.
  • 10Chung E J, Ki CS, Lee WY, et al. Clinical features and gene analysis in Korean patients with early-onset Parkinson disease [ J ]. Arch Neurol, 2006,63(8) :1170-1174.

二级参考文献24

  • 1张玉虎,唐北沙,郭纪锋,夏昆,许波,蔡芳,邓汉湘,严新翔,陈涛,曹立,潘乾,龙志高.常染色体隐性遗传早发性帕金森综合征6型PINK1基因的突变分析[J].中华医学杂志,2005,85(22):1538-1541. 被引量：23
  • 2Fung HC Chen CM Hardy J Singleton AB Lee-Chen GJ Wu YR.Analysis of the PINK1 gene in a cohort of patients with sporadic earlyonset parkinsonism in Taiwan[J].中国生物学文摘,2006,20(8):18-18. 被引量：6
  • 3Bonifati V, Oostra BA, Heutink P. Unraveling the pathogenesis of Parkinson's disease -the contribution of monogenic forms. Cell Mol Life Sci, 2004, 61: 1729-1750.
  • 4Valente EM, Abou-Sleiman PM, Caputo V,et al.Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science,2004,304:1158-1160.
  • 5Valente EM, Salvi S, Ialongo T,et al. PINK1 mutations are associated with sporadic early-onset Parkinsonism. Ann Neurol,2004,56:336-341.
  • 6Hatano Y, Li Y, Sato K, et al. Novel PINK1 mutations in early-onset Parkinsonism. Ann Neurol,2004,56:424-427.
  • 7Rohe CF, Montagna P, Breedveld G, et al. Homozygous PINK1 C-terminus mutation causing early-onset Parkinsonism. Ann Neurol,2004,56:427-431.
  • 8Lucking CB, Durr A, Bonifati V,et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. N Engl J Med,2000,342:1560-1567.
  • 9Hedrich K, Eskelson C, Wilmot B,et al. Distribution, type, and origin of Parkin mutations:review and case studies.Mov Disord, 2004, 19: 1146-1157.
  • 10Abou-Sleiman PM, Healy DG, Quinn N, et al. The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann Neurol, 2003,54:283-286.

共引文献28

同被引文献37

  • 1郭纪锋,唐北沙,张玉虎,夏昆,蔡芳,潘乾,沈璐,江泓,赵国华,严新翔,曹立.常染色体隐性遗传性早发型帕金森综合征DJ1基因突变研究[J].中华医学遗传学杂志,2005,22(6):641-643. 被引量：7
  • 2唐北沙,郭纪锋.帕金森病的遗传因素[J].临床内科杂志,2006,23(6):369-372. 被引量：3
  • 3王枫,陈彪,冯秀丽,邹海强,马敬红,董秀敏,李勇杰.PINK1基因多态位点IVS5-5G〉A可能增加中国人晚发性帕金森病的发病风险[J].中华医学遗传学杂志,2007,24(3):305-309. 被引量：9
  • 4Polymeropoulos MH,Higgins JJ,Golbe LI,et al.Mapping of a gene for Parkinson′s disease to chromosome 4q21 ～q23[J].Science,1996,274(5290):1197-1199.
  • 5Orth M,Tabrizi SJ,Tomlinson C,et al.G209A mutant alpha synuclein expression specifically enhances dopamine induced oxidative damage[J].Neurochem Int,2004,45(5):669-676.
  • 6Morfis L,Cordato DJ.Dementia with Lewy bodies in an elderly Greek male due to alpha-synuclein gene mutation[J].J Clin Neurosci,2006,13(9):942-944.
  • 7Hu Y,Tang B,Guo J,et al.Variant in the 3′ region of SNCA associated with Parkinson′s disease and serum alpha-synuclein levels[J].J Neurol,2011.[Epub ahead of print].
  • 8Liu X,Cheng R,Verbitsky M,et al.Genome-wide association study identifies candidate genes for Parkinson′s disease in an Ashkenazi Jewish population[J].BMC Med Genet,2011,12:104.
  • 9Pihlstrom L,Toft M.Genetic variability in SNCA and Parkinson′s disease[J].Neurogenetics,2011,12(4):283-293.
  • 10Zimprich A,Biskup S,Leitner P,et al.Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology[J].Neuron,2004,44(4):601-607.

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二级引证文献3

实用老年医学
2009年 第2期

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