人类朊病毒蛋白中的氨基酸多态性与遗传性朊病毒病的死亡年龄 - Suppr

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超能文献

Aminoacid polymorphism in human prion protein and age at death in inherited prion disease.

作者信息

Baker H E, Poulter M, Crow T J, Frith C D, Lofthouse R, Ridley R M

出版信息

Lancet. 1991 May 25;337(8752):1286. doi: 10.1016/0140-6736(91)92953-y.

DOI:10.1016/0140-6736(91)92953-y

PMID:1674080

Abstract

摘要

相似文献

Aminoacid polymorphism in human prion protein and age at death in inherited prion disease.人类朊病毒蛋白中的氨基酸多态性与遗传性朊病毒病的死亡年龄

Lancet. 1991 May 25;337(8752):1286. doi: 10.1016/0140-6736(91)92953-y.

Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.克雅氏病或格斯特曼-施特劳斯勒综合征中朊病毒蛋白的新型错义变体。

Biochem Biophys Res Commun. 1993 Mar 15;191(2):709-14. doi: 10.1006/bbrc.1993.1275.

[Genetic background of human prion diseases].[人类朊病毒疾病的遗传背景]

Ideggyogy Sz. 2007 Nov 30;60(11-12):438-46.

A case of sporadic Creutzfeldt-Jakob disease with a Gerstmann-Sträussler-Scheinker phenotype but no alterations in the PRNP gene.一例具有格斯特曼-施特劳斯勒-谢克尔表型但PRNP基因无改变的散发性克雅氏病病例。

Acta Neuropathol. 2000 Aug;100(2):233-4. doi: 10.1007/s004010000223.

Inherited human prion diseases.人类遗传性朊病毒疾病

Neurology. 1990 Dec;40(12):1820-7. doi: 10.1212/wnl.40.12.1820.

[Gene mutation and pathology in human prion disease].[人类朊病毒病中的基因突变与病理学]

No To Shinkei. 1997 Aug;49(8):681-7.

Deletions in the prion protein gene are not associated with CJD.

Hum Mol Genet. 1993 May;2(5):541-4. doi: 10.1093/hmg/2.5.541.

The prion diseases: Creutzfeldt-Jakob, Gerstmann-Sträussler-Scheinker, and related disorders.朊病毒疾病：克雅氏病、格斯特曼-施特劳斯勒-谢林克病及相关病症。

J Geriatr Psychiatry Neurol. 1998 Summer;11(2):78-97. doi: 10.1177/089198879801100206.

Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases.对患有遗传性朊病毒疾病的家族进行症状前检测或排除朊病毒蛋白基因缺陷。

Am J Hum Genet. 1991 Dec;49(6):1351-4.

[Molecular genetics in Creutzfeldt-Jakob disease].[克雅氏病中的分子遗传学]

Rinsho Shinkeigaku. 1994 Dec;34(12):1222-3.

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Insights into Mechanisms of Transmission and Pathogenesis from Transgenic Mouse Models of Prion Diseases.朊病毒疾病转基因小鼠模型对传播和发病机制的见解。

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Protective Effect of Val-PrP against Bovine Spongiform Encephalopathy but not Variant Creutzfeldt-Jakob Disease.缬氨酸-朊蛋白对牛海绵状脑病有保护作用，但对变异型克雅氏病没有保护作用。

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Ascertainment bias causes false signal of anticipation in genetic prion disease.确诊偏倚会在遗传性朊病毒病中导致假的早现信号。

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Small-molecule theranostic probes: a promising future in neurodegenerative diseases.小分子诊疗探针：在神经退行性疾病中前景广阔。

Int J Cell Biol. 2013;2013:150952. doi: 10.1155/2013/150952. Epub 2013 Nov 12.

Dominant prion mutants induce curing through pathways that promote chaperone-mediated disaggregation.优势朊病毒突变体能通过促进伴侣介导的解聚的途径诱导治愈。

Nat Struct Mol Biol. 2011 Apr;18(4):486-92. doi: 10.1038/nsmb.2031. Epub 2011 Mar 20.

Prion protein misfolding.朊病毒蛋白错误折叠。

Curr Mol Med. 2009 Sep;9(7):826-35. doi: 10.2174/156652409789105543.

Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteins.表达突变型人类朊病毒蛋白的转基因小鼠的自发性疾病缺失及朊病毒易感性比较

J Gen Virol. 2009 Mar;90(Pt 3):546-558. doi: 10.1099/vir.0.007930-0.

Defective retrotranslocation causes loss of anti-Bax function in human familial prion protein mutants.缺陷性逆向转运导致人类家族性朊病毒蛋白突变体中抗Bax功能丧失。

J Neurosci. 2007 May 9;27(19):5081-91. doi: 10.1523/JNEUROSCI.0957-07.2007.

Dissociation of pathological and molecular phenotype of variant Creutzfeldt-Jakob disease in transgenic human prion protein 129 heterozygous mice.转基因人朊蛋白129杂合小鼠中变异型克雅氏病的病理与分子表型解离

Proc Natl Acad Sci U S A. 2006 Jul 11;103(28):10759-64. doi: 10.1073/pnas.0604292103. Epub 2006 Jun 29.

BSE prions propagate as either variant CJD-like or sporadic CJD-like prion strains in transgenic mice expressing human prion protein.在表达人朊病毒蛋白的转基因小鼠中，牛海绵状脑病朊病毒以变异型克雅氏病样或散发性克雅氏病样朊病毒株的形式传播。

EMBO J. 2002 Dec 2;21(23):6358-66. doi: 10.1093/emboj/cdf653.

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