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早老蛋白与Alzheimer病 被引量:3

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摘要 分子遗传学研究表明早老蛋白基因(PS)突变是家族性阿尔茨海默疾病家系中最常见的遗传性基因突变。因此PS功能的研究成为近年来阿尔茨海默疾病研究领域的热点。本文综述了早老蛋白的结构和功能,早老蛋白基因的突变,PS参与调节Notch信号通路和早老蛋白参与调节βA4的γ-分泌酶的功能,以及PS与神经细胞程序性死亡的关系,并概述了PS的其它相互作用蛋白及其相互作用的生物学意义。
出处 《精神医学杂志》 2010年第3期232-234,共3页 Journal of Psychiatry
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  • 1Van Duijn CM,Van Broeckhoven C,Hardy JA,et al.Evidence for allelic heterogeneity in familial early onset Alzheimer's disease[J].British J psychiatry,1991,158:471-474.
  • 2Wisniewski T,Palha JA,Ghiso J,et al.S182 protein in Alzheimer's disease neuritic plaque[J].Lancet,1995,3:346-366.
  • 3Mintzer J E.Introduction:the clinical impact of agitation in various psychiatric disorders:management consensus and controversies[J].Clinical Psychiatry,2006,67:324-336.
  • 4Holmes C.Genotype and phenotype in Alzheimer's disease[J].British Journal of.Psychiatry,2002,180:131-134.
  • 5Perez-Tur J,Froelich S,Prihar G,et al.A mutation in Alzheimer's disease destroying a splice accepter site in the presenilin-1 gene[J].Neuro Report,1995,7:297 -301.
  • 6Liddell MB,Lovestone S.Genetic risk of Alzheimer's disease:advising relatives[J].British Journal of Psychiatry,2001,178:7-11.
  • 7Norton LE,Malloy PF,Salloway S,et al.The impact of behavioral symptoms on activities of daily living in patients with dementia[J].Geriatr Psychiatry,2001,9:41-48.
  • 8唐牟尼.阿尔采木病分子遗传学研究进展[J].国外医学(精神病学分册),2001,28(3):181-184. 被引量:1
  • 9王立伟.早老素与Alzheimer病[J].上海精神医学,1997,9(1):55-58. 被引量:1
  • 10Rogers J.An IL-1 alpha susceptibility polymorphism in Alzheimer's disease:new fuel for the inflammation hypothesis.[J].Neurology,2000,55:464-465.

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  • 1汪作为,方贻儒,洪武,汪栋祥,江三多.混合家系中NOTCH4基因多态与精神分裂症、心境障碍关联的研究[J].遗传,2005,27(6):865-868. 被引量:3
  • 2陈煜森,许志恩,赵斌,山县英久,三木哲郎.ApoE基因多态性与阿尔茨海默病的相关性研究[J].神经疾病与精神卫生,2006,6(2):89-91. 被引量:9
  • 3Li X,Westman E,St hlbom AK,et al. White matter changes in fami|ia[ Alzheimer's disease[J].J Intern Med, 2015,278 (2) : 211-218.
  • 4Coon K, Myers AD,Webster J,et al. A high-density whole-ge home association study reveals that APOE is the maior suscep- tibility gene for sporadic late-onset Alzheimer's disease[J]. J Clin Psychiatry,2007,68(4) :613-618.
  • 5Waring SC,Rosenberg RN. Genome-wide association studies in Alzheimer disease[J]. Arch Neurol, 2008,65 (3) : 329-334.
  • 6De Jonghe CD, Esselens C, Kumar-Singh S, et al. Pathogenic APP mutations near the gamma-seeretase cleavage site differ entially affect Abeta secretion and APP C terminal fragment stability[J].Hum Mol Genet,2001,10(16) :1 665-1 671.
  • 7Prasher VP, Farrer MJ, Kessling AM, et al. Molecular mapping of Alzheimer-type dementia in Down's syndrome[J]. Ann Neu- ro1,1998,43(3) : 380-383.
  • 8Campion D, Dumanchin C, H annequin D, et al. Early-onset au- tosomal dominant Alzheimer disease: prevalence,genetic het- erogeneity,and mutation spectrum[J]. Am J Hum Genet, 1999,65(3) :664-670.
  • 9Wolfe MS,Xia W,Ostaszewski BL,et al. Two transmembrane aspartates in presenilin-1 required for presenilin endoproteoly sis and gamma-secretase activity[J]. Nature, 1999, 398 (6 727) :513-517.
  • 10Marc C, Jessie T, Christine VB. Locus-Specific Mutation Da- tabases for Neurodegenerative Brain Diseases[J]. Hum Mu tat,2012,33(9) :1 340-1 344.

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