期刊文献+

Parkin基因和帕金森病 被引量:2

原文传递
导出
摘要 帕金森病(PD)是一种缓慢进展的神经系统变性疾病,Parkin基因突变与早发性PD有关。Parkin主要位于神经元胞浆和突触中,与突触传递有关,其作为泛素连接酶E3参与泛素-蛋白水解酶系统的蛋白降解过程。后者的功能是清除受不良环境影响或细胞内应激状态而形成的错误折叠的蛋白,维持细胞内稳态。Parkin突变使细胞内蛋白代谢紊乱,异常蛋白选择性地聚集于黑质多巴胺能神经元,防碍了多巴胺递质释放和运输,产生帕金森病的症状,同时产生细胞毒性,导致细胞死亡。
出处 《国外医学(神经病学.神经外科学分册)》 2004年第3期283-286,共4页 Foreign Medical Sciences(Section On Neurology & Neurosurgery)
  • 相关文献

参考文献22

  • 1Lim KL, Dawson VL, Dawson TM. The cast of molecular characters in Parkinson's disease: felons, conspirators, and suspects. Ann N Y Acad Sei, 2003, 991: 80-92.
  • 2Yamamura Y, Sobue I, Ando K, et al. Paralysis agitans of early onset with marked diurnal fluctuation of symptoms. Neurology, 1973, 23(3) :239 - 244.
  • 3Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature, 1998, 392(6676) : 605 - 608.
  • 4Klein C, Pramstaller PP, Kis B, et al. Parkin deletions in a family with adult- onset, tremor- dominant parkinsonism: expanding the phenotype. Ann Neurol, 2000, 48(1): 65-71.
  • 5Farter M, Chart P, Chen R, et al. Lewy bodies and Parkinsonism in families with Parkin mutations. Ann Neurol, 2001, 50(3) : 293 - 300.
  • 6West AB, Maraganore D, Crook J, et al. Functional association of the parkin gene promoter with idiopathic Parkinson' s disease. Hum Mol Genet, 2002, 11(22): 2787-2792.
  • 7Mata IF, Alvarez V, Garcia - Moreira V, et al. Single - nucleotide polymorphisms in the promoter region of the PARKIN gene and Parkinson's disease. Neurosci Lett, 2002, 329(2) : 149 - 152.
  • 8Lucking CB, Durr A, Bonifafi V. Association between early - onset Parkinson's disease and mutations in the parkin gene. N Engl .J Med,2000, 342(21): 1560- 1567.
  • 9Ujike H, Yamamoto M, Kanzaki A, et al. Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease. Mov Disord, 2001, 16(1): 111 - 113.
  • 10Kahle PJ, Leimer U, Hasss C. Does failure of parkin - mediated ubiquitination cause juvenile parkinsonism? Trends Biochem Sci, 2000,25(11): 524-527.

同被引文献17

  • 1张振涛,曹学兵,孙圣刚.帕金森病多巴胺神经元死亡的分子机制[J].中国康复,2006,21(6):402-404. 被引量:17
  • 2CHUNGSJ, ARMASUSM, BIERNACKAJM, et al. Common variantsin PARK loci and related genes and Parkinson’s disease [ J ]. MovDisord, 2011, 26(2): 280-288.
  • 3OLANOW C W. Manganese-induced parkinsonism and Parkinson’sdisease[ J ]. Ann N Y Acad Sci, 2004, 1012: 209-223.
  • 4ASCHNER M. Mang anese: brain transport and emerging researchneeds[ J ]. Environ Health Perspect, 2000, 108( Suppl 3 ): 429-432.
  • 5WANG JD, HUANG CC, HWANG YH, et al. Manganese inducedparkinsonism : an outbreak due to an unrepaired ventilation controlsystem in a ferromanganese smelter[ J ]. Br J Ind Med,1989,46( 12 ):856-859.
  • 6LOUIS ED, YOUSEFZADEH E, BARNES LF, et al. Validation of aportable instrument for assessing tremor severity in epidemiologic fieldstudies[ J].Mov Disord, 2000, 15( 1 ): 95-102.
  • 7T, ASAKAWA S,HATTORI N,et al. Mutations in the parkingene cause autosomal recessive juvenile parkinsonism [ J ]. Nature,1998, 392(6676): 605-608.
  • 8SHIMURA H, HATTORI N,KUBO S,et al. Familial Parkinsondisease gene product, parkin, is a ubiquitin-protein ligase [ J ]. NatGenet, 2000,25(3): 302-305.
  • 9金泰虡.现代毒理学[M].上海:复旦大学出版社,2004:18-20.
  • 10Bi-Yin Cao,Ya-Ping Yang,Wei-Feng Luo,Cheng-Jie Mao,Rong Han,Xue Sun,Jing Cheng,Chun-Feng Liu.Paeoniflorin, a potent natural compound, protects PC12 cells from MPP + and acidic damage via autophagic pathway[J].Journal of Ethnopharmacology.2010(1)

引证文献2

二级引证文献1

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部