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嗜银颗粒病:与其他四重复tau蛋白病的分子遗传学差异

Argyrophilic grain disease: molecular genetic difference to other four-repeat tauopathies.

作者信息

Miserez André R, Clavaguera Florence, Monsch Andreas U, Probst Alphonse, Tolnay Markus

机构信息

Cardiovascular Genetics, Institute of Biochemistry and Genetics, Department of Clinical-Biological Sciences, University of Basel, Basel, Switzerland.

出版信息

Acta Neuropathol. 2003 Oct;106(4):363-6. doi: 10.1007/s00401-003-0742-x. Epub 2003 Aug 29.

DOI:10.1007/s00401-003-0742-x
PMID:14513264
Abstract

Argyrophilic grain disease (AgD) is a four-repeat tauopathy that is almost exclusively restricted to allocortical areas. Progressive supranuclear palsy and corticobasal degeneration also show predominant deposition of four-repeat tau filaments, and are associated with the tau H1 haplotype. We investigated a possible association between AgD and the tau H1 haplotype. In AgD, no difference between the prevalence of the tau H1 haplotype or H1/H1 genotype was observed when compared to non-demented control cases. These data suggest that a dysfunction of the tau protein in AgD-in contrast to other four-repeat tauopathies-may arise irrespective of the genetic background regarding the tau H1 or H2 haplotypes.

摘要

嗜银颗粒病(AgD)是一种几乎仅局限于异皮质区域的四重复tau蛋白病。进行性核上性麻痹和皮质基底节变性也显示出四重复tau细丝的主要沉积,并与tau H1单倍型相关。我们研究了AgD与tau H1单倍型之间可能的关联。在AgD中,与非痴呆对照病例相比,未观察到tau H1单倍型或H1/H1基因型患病率的差异。这些数据表明,与其他四重复tau蛋白病不同,AgD中tau蛋白的功能障碍可能与tau H1或H2单倍型的遗传背景无关。

相似文献

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Argyrophilic grain disease: molecular genetic difference to other four-repeat tauopathies.嗜银颗粒病:与其他四重复tau蛋白病的分子遗传学差异
Acta Neuropathol. 2003 Oct;106(4):363-6. doi: 10.1007/s00401-003-0742-x. Epub 2003 Aug 29.
2
Diffuse form of argyrophilic grain disease: a new variant of four-repeat tauopathy different from limbic argyrophilic grain disease.嗜银颗粒病的弥漫型:一种不同于边缘性嗜银颗粒病的四重复tau蛋白病新变体。
Acta Neuropathol. 2003 Dec;106(6):575-83. doi: 10.1007/s00401-003-0762-6. Epub 2003 Sep 27.
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Molecular evolution and genetics of the Saitohin gene and tau haplotype in Alzheimer's disease and argyrophilic grain disease.阿尔茨海默病和嗜银颗粒病中斋藤蛋白基因及tau单倍型的分子进化与遗传学
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Argyrophilic grain disease and Alzheimer's disease are distinguished by their different distribution of tau protein isoforms.嗜银颗粒病和阿尔茨海默病可通过其tau蛋白异构体的不同分布来区分。
Acta Neuropathol. 2002 Oct;104(4):425-34. doi: 10.1007/s00401-002-0591-z. Epub 2002 Jul 26.
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Anti-tau phospho-specific Ser262 antibody recognizes a variety of abnormal hyper-phosphorylated tau deposits in tauopathies including Pick bodies and argyrophilic grains.抗tau蛋白磷酸化特异性丝氨酸262抗体可识别多种tau蛋白病中的异常高磷酸化tau蛋白沉积物,包括Pick小体和嗜银颗粒。
Acta Neuropathol. 2002 Dec;104(6):658-64. doi: 10.1007/s00401-002-0600-2. Epub 2002 Aug 30.
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[Dynamic neuropathology of tauopathy].[tau蛋白病的动态神经病理学]
Rinsho Shinkeigaku. 2001 Dec;41(12):1101-3.
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Argyrophilic grain disease is a sporadic 4-repeat tauopathy.嗜银颗粒病是一种散发性的4重复tau蛋白病。
J Neuropathol Exp Neurol. 2002 Jun;61(6):547-56. doi: 10.1093/jnen/61.6.547.
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Argyrophilic grain pathology as a natural model of tau propagation.嗜银颗粒病理学作为tau蛋白传播的自然模型。
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Alterations in human tau transcripts correlate with those of neurofilament in sporadic tauopathies.在散发性tau蛋白病中,人类tau转录本的改变与神经丝的改变相关。
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Tauopathies: classification and clinical update on neurodegenerative diseases associated with microtubule-associated protein tau.tau蛋白病:与微管相关蛋白tau相关的神经退行性疾病的分类及临床进展
Intern Med J. 2006 Oct;36(10):652-60. doi: 10.1111/j.1445-5994.2006.01153.x.

引用本文的文献

1
Hippocampal Sclerosis, Argyrophilic Grain Disease, and Primary Age-Related Tauopathy.海马硬化、嗜银颗粒病和原发性年龄相关性tau蛋白病。
Continuum (Minneap Minn). 2019 Feb;25(1):208-233. doi: 10.1212/CON.0000000000000697.
2
Argyrophilic grain disease: An underestimated tauopathy.嗜银颗粒病:一种被低估的tau蛋白病。
Dement Neuropsychol. 2015 Jan-Mar;9(1):2-8. doi: 10.1590/S1980-57642015DN91000002.
3
Argyrophilic Grain Disease: Demographics, Clinical, and Neuropathological Features From a Large Autopsy Study.嗜银颗粒病:来自一项大型尸检研究的人口统计学、临床和神经病理学特征
J Neuropathol Exp Neurol. 2016 Jul;75(7):628-35. doi: 10.1093/jnen/nlw034. Epub 2016 Jun 9.