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)
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
-
1崔博,崔丽英,李晓璐.肌萎缩侧索硬化合并认知障碍研究进展[J].中华医学杂志,2014,94(31):2474-2476. 被引量:2
-
2房效莉,曹幸毅,宋金莲,梅倩倩,吴士文.散发性肌萎缩侧索硬化39例临床分析[J].临床误诊误治,2015,28(4):88-90. 被引量:4
-
3房效莉,曹幸毅,梅倩倩,张进进,吴士文.肌萎缩侧索硬化与其他神经变性病重叠的研究进展[J].中华神经科杂志,2015,48(5):428-430. 被引量:6
-
4李倩倩,朱红灿,白宏英.肌萎缩侧索硬化患者的认知和行为功能损害[J].中国实用神经疾病杂志,2015,18(10):39-41. 被引量:3
-
5王湃,吕元杰,汪梅.一种基于智能手机与脑-机接口技术的环境控制系统[J].西安科技大学学报,2015,35(5):656-661. 被引量:2
-
6傅小玲,黄旭升.肌萎缩侧索硬化PET/CT的研究进展[J].中华神经科杂志,2016,49(5):413-416.
-
7洪逸铭,伍世表,杜宝新,郑瑜,杨碧莹,周明娟,卢明,侯晓妹.肌萎缩侧索硬化患者肺功能及呼吸肌功能的临床研究[J].临床神经病学杂志,2016,29(4):267-269. 被引量:1
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.
引证文献5
-
1房效莉,曹幸毅,梅倩倩,张进进,吴士文.肌萎缩侧索硬化与其他神经变性病重叠的研究进展[J].中华神经科杂志,2015,48(5):428-430. 被引量:6
-
2崔政,徐毅,张黎明.反式激活应答DNA结合蛋白-43及其相关疾病的研究进展[J].中国临床神经科学,2016,24(3):351-356. 被引量:2
-
3位嘉,付永娟,卢德宏.神经变性疾病的分子病理学特点[J].北京医学,2016,38(10):1063-1066. 被引量:1
-
4蒋璐,包正军,唐兰英,赵真,杨家慧.胱抑素C在神经系统变性疾病中的研究进展[J].中国新药杂志,2020(5):525-529. 被引量:8
-
5陈畅,罗婉君,段飞鹏,王寓平,胥雄飞,杨萌楚,姜金铸,谢永艳,黄锦伟,黄丽萍.基于应激颗粒的中药神经保护研究设想[J].中草药,2022,53(16):5185-5192.
二级引证文献17
-
1郭雪隽,周邑东,白鲁佳,俞鸣,吴宇飞.肌萎缩侧索硬化合并额颞叶痴呆一例[J].现代电生理学杂志,2019,0(4):220-223.
-
2赛米热·沙塔尔,蒋森,穆妮热·沙塔尔,楼伟,杨新玲.血清胱抑素C与帕金森病相关性研究[J].世界最新医学信息文摘,2021(13):30-31.
-
3刘向一,郑梅,张英爽,何及,叶珊,樊东升.Brait-Fahn-Schwartz病一例[J].中华神经科杂志,2016,49(6):484-485. 被引量:3
-
4朱文浩,骆翔,黄晓江,王伟,周匡果.基于高通量芯片和生物信息学探索肌萎缩侧索硬化发病相关基因[J].华中科技大学学报(医学版),2016,45(3):248-252.
-
5李伟,张建国.神经变性疾病的病理特征和临床病例分析[J].继续医学教育,2018,32(6):94-96.
-
6宋彬彬,王清,宋秋萍,段立疆,武香梅,宋岳涛,杨璇,于佳.TAR DNA结合蛋白43与肌萎缩侧索硬化症的关系[J].脑与神经疾病杂志,2017,25(7):450-455.
-
7李鸿浩.中医针灸在肌萎缩侧索硬化症治疗中的研究进展[J].中国处方药,2018,16(8):28-29. 被引量:3
-
8魏晓晶,高彦露,康志霞,苗晶,朱丹,于雪凡.肌萎缩侧索硬化研究进展[J].中风与神经疾病杂志,2019,36(2):178-180. 被引量:2
-
9徐振东,张琳,张胜利,何涛,罗慧敏,吴晓燕,范永臻,王海蓉,鲁志兵,陈明.冠心病患者血清脂蛋白(a)和胱抑素C与抑郁症的关系[J].心脏杂志,2021,33(6):624-627. 被引量:4
-
10马婷婷,胡鸿炜,林慧怡,张应魏.帕金森病人血清胱抑素C水平、尿酸变化与病情分期、认知障碍、运动功能的相关性研究[J].蚌埠医学院学报,2022,47(8):1043-1047. 被引量:3
-
1李冠军,李华芳.行为变异型额颞叶痴呆的影像学研究进展[J].临床精神医学杂志,2014,24(5):343-344. 被引量:1
-
2顾建兰,刘飞.TDP-43与神经退行性疾病[J].南通大学学报(医学版),2012,32(6):520-523. 被引量:2
-
3阻断线粒体中特殊蛋白质的聚集或可有效治疗多种神经变性疾病[J].生物医学工程与临床,2016,20(5).
-
4孟丹,赵建国.额颞叶痴呆伴肌萎缩侧索硬化1例[J].中西医结合心脑血管病杂志,2016,14(20):2463-2464. 被引量:1
-
5汪晶,朱青,胡波,曹非.中枢神经系统损伤后修复的内在机制研究[J].神经损伤与功能重建,2015,10(2):145-147. 被引量:3
-
6吴建新,陈先文.额颞叶变性的研究进展[J].第二军医大学学报,2007,28(2):204-208. 被引量:3
-
7余志良,谢惠君,郑惠民.核糖核酸对强直性肌营养不良的致病作用[J].中华神经科杂志,2008,41(12):862-865.
-
8额颞叶变性专家共识[J].中华神经科杂志,2014,47(5):351-356. 被引量:39
-
9金荣祥,吕立夏,姚劲松,杨翠香,李学礼,王尧.脑室注射AB_(1-40)对海马NAPOR基因表达的影响[J].同济大学学报(医学版),2001,22(6):4-6. 被引量:2
-
10李瑜霞,李永秋,盛灿,孙宇,李红艳,韩璎.临床易与非典型阿尔茨海默病相混淆的额颞叶变性1例[J].中国临床医学影像杂志,2016,27(6):445-446. 被引量:2