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结合蛋白TDP-43与神经变性疾病 被引量:5

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摘要 TDP43(transactive DNA bindingprotein43)是一个多功能的DNA和RNA结合蛋白,在RNA转录、选择性剪接及mRNA稳定性调节等过程中发挥作用。它是大部分额颞叶变性(FTLD)和肌萎缩侧索硬化(ALS)的主要病理学标志,是FFLD和ALS患者残存神经元内泛素化包涵体的特征性成分。此外,TDP43也见于其他神经变性疾病,包括阿尔茨海默病(AD)、帕金森病”刮等。我们拟对TDP43的生理功能,TDP43与FTLD、ALS及其他神经变性疾病的关系,以及其在兀1LD和ALS发病机制中的作用进行综述。
出处 《中华神经科杂志》 CAS CSCD 北大核心 2014年第3期195-198,共4页 Chinese Journal of Neurology
基金 国家自然科学青年基金资助项目(81301087)
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参考文献60

  • 1Lagier-Tourenne C, Polymenidou M,Cleveland DW. TDP-43 andFUS/TLS : emerging roles in RNA processing andneurodegenerationf J]. Hum Mol Genet, 2010, 19 :R46-64.
  • 2Neumann M,Sampathu D, Kwong L,et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateralsclerosis[J]. Science, 2006,314: 130-133.
  • 3Bigio EH, Wu JY, Deng HX, et al. Inclusions in frontotemporallobar degeneration with TDP-43 proteinopathy ( FTLD-TDP) andamyotrophic lateral sclerosis ( ALS),but not FTLD with FUSproteinopathy (FTLD-FUS),have properties of amyloid [J]. ActaNeuropathol, 2013, 125:463465.
  • 4Arai T, Mackenzie IR, Hasegawa M, et al. Phosphorylated TDP-43 in Alzheimer ’ s disease and dementia with Lewy bodies [J].Acta Neuropathol, 2009,117:125-136.
  • 5Wilson AC, Dugger BN, Dickson DW, et al. TDP-43 in agingand Alzheimer ’ s disease-a review [J]. Int J Clin Exp Pathol,2011,4:147-155.
  • 6Buratti E, Derk T, Zuccato E, et al. Nuclear factor TDP-43 andSR proteins promote in vitro and in vivo CFTR exon 9 skipping[J]. EMBO J, 2001, 20:1774-1784.
  • 7Buratti E, Baralle FE. Characterization and functionalimplications of the RNA binding properties of nuclear factor TDP-43 ,a novel splicing regulator of CFTR exon 9[J]. J Biol Chem,2001, 276:36337-36343.
  • 8Bhardwaj A, Myers MP, Buratti E, et al. Characterizing TDP-43interaction with its RNA targets [J]. Nucleic Acids Res, 2013 ,41:5062-5074.
  • 9Polymenidou M,Lagier-Tourenne C,Hutt KR,et al. Long pre-mRNA depletion and RNA missplicing contribute to neuronalvulnerability from loss of TDP-43 [J]. Nat Neurosci,2011,14:459468.
  • 10Ihara R, Matsukawa K, Nagata Y, et al. RNA binding mediatesneurotoxicity in the transgenic Drosophila model of TDP-43proteinopathy [J]. Hum Mol Genet, 2013 , 22 :4474-4484.

二级参考文献23

  • 1郭起浩,洪震,吕传真,周燕,陆骏超,丁玎.Stroop色词测验在早期识别阿尔茨海默病中的作用[J].中华神经医学杂志,2005,4(7):701-704. 被引量:85
  • 2Neary D,Snowden JS,Mann DM.Cognitive change in motor neurone disease/amyotrophic lateral sclerosis (MND/ALS).J Neurol Sci,2000,180:15-20.
  • 3Irwin D,Lippa CF,Swearer JM.Cognition and amyotrophic lateral sclerosis (ALS).Am J Alzheimere Dis Other Demen,2007,22:300-312.
  • 4Raaphorst J,Grupstra HF,Linssen WH,et al.Amyotrophic lateral sclerosis en frontotemporal dementia:overlapping characteristics.Ned Tijdschr Geneesk,2010,154:A631.
  • 5Brooks BR,Miller RG,Swash M,et al.El Escorial revisited:Revised criteria for the diagnosis of amyotrophic lateral sclerosis.Amyotrophic Lateral Scler Other Motor Neuron Disord,2000,1:293-299.
  • 6汤慈美.神经病学第7卷 神经心理学.北京:人民军医出版社,2001.315.
  • 7Abrahams S,Leigh PN,Harvey A,et al.Verbal fluency and executive dysfunction in amyotrophic lateral sclerosis (ALS).Neuropsychologia,2000,38:734-747.
  • 8Hanagasi HA,Gurvit HI,Ermutlu N.et al.Cognitive impairment in amyotrophic lateral sclerosis:evidence from neuropsychological investigation and event-related potentials.Brain Res Cogn Brain Res,2002,14:234-244.
  • 9Petersen RC,Doody R,Kurz A,et al.Current concepts in mild cognitive impairment.Arch Neurol,2001,58:1985-1992.
  • 10Lomen-Hoerth C,Murphy J,Langmore S,et al.Are amyotrophic lateral sclerosis patients cognitively normal? Neurology,2003,60:1094-1097.

共引文献7

同被引文献48

  • 1Baumer D, Talbot K, Turner MR. Advances in motor neurone disease[J]. J Royal Soc Med, 2014, 107(1) : 14-21.
  • 2Gijselinck I, Van Langenhove T, van der Zee J, et al. A C9orf72 promoter repeat expansion in a Flanders-Be[gian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum : a gene identification study [ J ]. Lancet Neurol, 2012, 11(1): 54-65.
  • 3Sieben A, Van Langenhove T, Engelborghs S, et al. The genetics and neuropathology of frontotemporal lobar degeneration[ J]. Acta Neuropathol, 2012, 124(3): 353-372.
  • 4Ling SC, Poymenidou M, Cleveland DW. Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis [ J ]. Neuron. 2013. 79 ( 3 ) : 416-438.
  • 5Turner MR, Hammers A, AI-Chalabi A, et al. Distinct cerebral lesions in sporadic and ' D90A' SOD1 ALS : studies with [ 11C ] flumazenil PET [ J]. Brain, 2005, 128 ( Pt 6) : 1323-1329.
  • 6Chio A, Calvo A, Moglia C, et al. Amyotrophic lateral sclerosis- frontotemporal lobar dementia in 3 families with p. Ala382Thr TARDBP mutations [ J ]. Arch Neurol, 2010, 67 ( 8 ) : 1002- 1009.
  • 7Seelaar H, Rohrer JD, Pijnenburg YA, et al. Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review[ J ]. J Neurol Neurosurg Psychiatry, 2011, 82 (5) : 476- 486.
  • 8Wheaton MW, Salamone AR, Mosnik DM, et al. Cognitive impairment in familial ALS [ J ]. Neurology, 2007, 69 ( 14 ) : 1411-1417.
  • 9Myers AJ, Kaleem M, Marlowe L, et al. The Hlc haplotype at the MAPT locus is associated with Alzheimer' s disease[J]. Hum Mol Genet, 2005, 14( 16): 2399-2404.
  • 10Ticozzi N, LeClerc AL, van Blitterswijk M, et al. Mutational analysis of TARDBP in neurodegenerative diseases[ J]. Neurobiol Aging, 2011, 32( 11 ): 2096-2099.

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