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肌萎缩侧索硬化症基因研究进展 被引量：2

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摘要 肌萎缩侧索硬化症(amyotrophic lateral sclerosis,ALS)是一种常见的运动神经元疾病,临床上常表现为上、下运动神经元合并受损的混合性瘫痪。ALS按发病方式可分为家族性ALS(familial ALS,fALS)和散发性ALS(sporadic ALS,sALS),两者具有相似的病理和临床特征。近年来随着分子生物技术的发展,ALS遗传学研究取得了长足的发展。该文就fALS相关基因及sALS的基因研究进展进行了综述。
作者 李娜 李林臣 董明纲
机构地区 中国石油中心医院检验科 张家口市第一人民医院 河北北方学院
出处 《河北北方学院学报（自然科学版）》 2016年第4期53-55,共3页 Journal of Hebei North University:Natural Science Edition
关键词 家族性肌萎缩侧索硬化症 散发性肌萎缩侧索硬化症 基因 分子生物技术
分类号 R744 [医药卫生—神经病学与精神病学]
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参考文献17

  • 1Couthouis J ,Raphael A R,Daneshjou R,et al. Targetedexon capture and sequencing in sporadic amyotrophiclateral sclerosis [ J ]. PLoS Genet, 2014,10 (10):el004704.
  • 2孙梅影,丁卫江.肌萎缩侧索硬化的分子遗传学和发病机制进展[J].中国老年学杂志,2014,34(1):283-285. 被引量：3
  • 3Kabashi E, Valdmanis P N, Dion P, et al. TARDBPmutations in individuals with sporadic and familialamyotrophic lateral sclerosis[J]. Nat Genet.,2008,40(5):572-574.
  • 4van Es M A* Dahlberg C, Birve A, et al. Large-scaleSOD1 mutation screening provides evidence for geneticheterogeneity in amyotrophic lateral sclerosis [J]? JNeurol Neurosurg Psychiatry,2010,81(5) :562-566.
  • 5Robberecht W,Philips T. The changing scene of amyo-trophic lateral sclerosis[J]. Nat Rev Neurosci,2013,14(4):248-264.
  • 6Sun Z, Diaz Fang X, et al. Molecular determinantsand genetic modifiers of aggregation and toxicity forthe ALS disease protein FUS/TLS[J]. PLoS Biol,2011,9(4):el000614.
  • 7CouthouisJ, Hart M P, Shorter J, et al. A yeast func-tional screen predicts new candidate ALS disease genes[J].Proc Natl Acad Sci U S A,2011,108(52):20881-20890.
  • 8Couthouis J, Hart M P, Erion R, et al. Evaluating therole of the FUS/TLS-related gene EWSR1 in amyotro-phic lateral sclerosis [ J]. Hum Mol Genet, 2012, 21(13):2899-2911.
  • 9Takahashi Y,Fukuda Y,Yoshimura J,et al. ErbB4 mu-tations that disrupt the neuregulin-ErbB4 pathwaycause amyotrophic lateral sclerosis type 19 [J]. Am JHum Genet ,2013,93(5) ;900-905.
  • 10Chesi A,Staahl B T,Jovicic A,et al. Exome sequencingto identify de novo mutations in sporadic ALS trios[J]. Nat Neurosci,2013,16(7) :851-855.

二级参考文献17

  • 1Lucia Corrado,Yari Carlomagno,Luca Falasco,Simona Mellone,Michela Godi,Emanuela Cova,Cristina Cereda,Lucia Testa,Letizia Mazzini,Sandra D’Alfonso.A novel peripherin gene ( PRPH ) mutation identified in one sporadic amyotrophic lateral sclerosis patient[J]. Neurobiology of Aging . 2011 (3)
  • 2D. B?umer,D. Hilton,S.M.L. Paine,M.R. Turner,J. Lowe,K. Talbot,O. Ansorge.Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations[J]. Neurology . 2010 (7)
  • 3J. Yan,H.-X. Deng,N. Siddique,F. Fecto,W. Chen,Y. Yang,E. Liu,S. Donkervoort,J.G. Zheng,Y. Shi,K.B. Ahmeti,B. Brooks,W.K. Engel,T. Siddique.Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia[J]. Neurology . 2010 (9)
  • 4R G. Miller,C E. Jackson,E J. Kasarskis,J D. England,D Forshew,W Johnston,S Kalra,J S. Katz,H Mitsumoto,J Rosenfeld,C Shoesmith,M J. Strong,S C. Woolley.Practice Parameter update: The care of the patient with amyotrophic lateral sclerosis: Drug, nutritional, and respiratory therapies (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology[J]. Neurology . 2009 (15)
  • 5L. Van Den Bosch,W. Robberecht.Crosstalk between astrocytes and motor neurons: What is the message?[J]. Experimental Neurology . 2008 (1)
  • 6JD Mitchell,GD Borasio.Amyotrophic lateral sclerosis[J]. The Lancet . 2007 (9578)
  • 7P John Hart.Pathogenic superoxide dismutase structure, folding, aggregation and turnover[J]. Current Opinion in Chemical Biology . 2005 (2)
  • 8Fujian Zhang,Haining Zhu.Intracellular conformational alterations of mutant SOD1 and the implications for fALS-associated SOD1 mutant induced motor neuron cell death[J]. BBA - General Subjects . 2005 (3)
  • 9S Boillée,K Yamanaka,CS Lobsiger,NG Copeland,NA Jenkins,G Kassiotis,G Kollias,DW Cleveland.Onset and progression in inherited ALS determined by motor neurons and microglia. Science . 2006
  • 10Caroline Vance,Boris Rogelj,Tibor Hortobágyi,Kurt J. De Vos,Agnes Lumi Nishimura,Jemeen Sreedharan,Xun Hu,Bradley Smith,Deborah Ruddy,Paul Wright,Jeban Ganesalingam,Kelly L. Williams,Vineeta Tripathi,Safa Al-Saraj,Ammar Al-Cha.Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6. Science . 2009

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河北北方学院学报（自然科学版）
2016年 第4期

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