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肉瘤融合基因与肌萎缩侧索硬化 被引量：3

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摘要 肌萎缩侧索硬化（amyotrophic lateral sclerosis，ALS）是一种少见的神经变性病，病情呈进行性进展，平均生存期仅3～5年。ALS可分为散发性ALS（sporadic ALS，sALS，约占90％）和家族性ALS（familial ALS，fALS，约占10％）。
作者 邹漳钰 崔丽英
机构地区 中国医学科学院北京协和医院神经内科
出处 《中华神经科杂志》 CAS CSCD 北大核心 2011年第11期777-779,共3页 Chinese Journal of Neurology
基金 基金项目：国家自然科学基金资助项目（30971002） 国家自然科学基金对外交流与合作项目（30911120496）
关键词 肌萎缩侧索硬化 融合基因 肉瘤 神经变性病 平均生存期 ALS 进行性 散发性
分类号 R744.8 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献31

  • 1Lagier-Tourenne C, Cleveland DW. Rethinking ALS: the FUS about TDP43. Cell, 2009, 136 : 100! -1004.
  • 2Mackenzie IR, Rademakers R, Neumann M. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol, 2010, 9: 995-1007.
  • 3Vance C, Rogelj B, Hortobagyi T, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science, 2009, 323 : 1208-1211.
  • 4Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science, 2009, 323 : 1205-1208.
  • 5沈定国.对肌萎缩侧索硬化发病机制的新认识[J].中华神经科杂志,2011,44(8):574-577. 被引量：8
  • 6Lagier-Tourenne C, Polymenidou M, Cleveland DW. TDP43 and FUS/TLS : emerging roles in RNA processing and neurodegeneration. Hum Mol Genet, 2010, 19 ( R1 ) : R46-64.
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二级参考文献45

  • 1张华纲,樊东升,张俊,康德瑄,张英爽,王力平.CYP2E1基因5’侧翼区多态性与男性罹患ALS相关性推测[J].中华神经医学杂志,2005,4(12):1197-1200. 被引量：2
  • 2Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature, 1993, 362:59-62.
  • 3Neumann M, Sampathu DW, Kwong LK, et al. Ubiquitinated TDP43 in frontotemporal lobar degeneration amyotrophic lateral sclerosis. Science, 2006, 314:130-133.
  • 4Kwiatkowski TJ, Bosco DA, Leclerc AL, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyorophic lateral sclerosis. Science, 2009, 323:1205-1208.
  • 5Mackenzie IRA, Rademakers R, Neumann M. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lacent Neurol, 2010, 9: 995-1007.
  • 6Lagier-Tourenne C, Polymennidou M, Cleveland DW. TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. Hum Mol Genet, 2010, 19(R1 ) :R46-64.
  • 7史树青 李露斯 陈康宁.一个散发性肌萎缩侧索硬化家系的SODl基因突变[J].中华医学遗传学杂志,2010,:149-152.
  • 8Seetharaman SV, Prudencio M, Karch C, et al. Immature copperzinc superoxide dismutase and familial amyotrophic lateral sclerosis. Exp Biol Med ( Maywood), 2009, 234 : 1140-1154.
  • 9Ilieva H, Polymenidou M, Cleveland DW. Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond. J Cell Biol, 2009, 187:761-772.
  • 10Wang L, Popko B, Roos RP. The unfolded protein response in familial amyotrophic lateral sclerosis. Hum Mol Genet, 2011,20 : 1008-1015.

共引文献7

同被引文献84

  • 1张莉红,李晓光,崔丽英.肌萎缩侧索硬化与超氧化物歧化酶1基因突变研究进展[J].中华神经科杂志,2007,40(1):65-67. 被引量：14
  • 2Hardiman O, van den Berg LH, Kiernan MC. Clinical diagnosis and management of amyotrophic lateral sclerosis. Nat Rev Neurol, 2011,7:639-649.
  • 3Andersen PM, A1-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nat Rev Neurol, 2011, 7:603-615.
  • 4Greenway MJ, Andersen PM, Russ C, et al. ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat Genet, 2006,38:411-413.
  • 5Sreedharan J, Blair IP, Tripathi VB, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science, 2008, 319 : 1668-1672.
  • 6Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science, 2009,323:1205-1208.
  • 7Vance C, Rogelj B, Hortobagyi T, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science, 2009,323 : 1208-1211.
  • 8Maruyama H, Morino H, Ito H, et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature, 2010,465:223-226.
  • 9Johnson JO, Mandrioli J, Benatar M, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron, 2010, 68 : 857-864.
  • 10Deng HX, Chen W, Hong ST, et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/ dementia. Nature, 2011,477:211-215.

引证文献3

二级引证文献10

中华神经科杂志
2011年 第11期

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