• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

[The function of spinocerebellar ataxia type 2 (SCA2) gene product, ataxin-2 and the mechanism of pathogenesis for SCA2].

作者信息

Sanpei K

机构信息

Department of Neurology, Sado General Hospital.

出版信息

Nihon Rinsho. 1999 Apr;57(4):822-4.

PMID:10222773
Abstract

This review summarizes the current progress in the research on the function of ataxin-2 and the mechanism of pathogenesis for SCA2. Recent studies on genomic structure of the human gene for SCA2 and on the mouse homolog of the SCA2 gene have shed light on the molecular mechanism of pathogenesis of SCA2. Analysis of the expression pattern of ataxin-2 in human brain revealed that both wild-type and mutant form of ataxin-2 were expressed and the wild-type ataxin-2 was localized in the cytoplasm with strong labeling of Purkinje cells and that intranuclear inclusions were not seen in SCA2 brain.

摘要

相似文献

1
[The function of spinocerebellar ataxia type 2 (SCA2) gene product, ataxin-2 and the mechanism of pathogenesis for SCA2].
Nihon Rinsho. 1999 Apr;57(4):822-4.
2
Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2.
Ann Neurol. 1999 Feb;45(2):232-41. doi: 10.1002/1531-8249(199902)45:2<232::aid-ana14>3.0.co;2-7.
3
Ubiquitous expression of human SCA2 gene under the regulation of the SCA2 self promoter cause specific Purkinje cell degeneration in transgenic mice.在SCA2自身启动子调控下，人SCA2基因的普遍表达导致转基因小鼠中特定的浦肯野细胞变性。
Neurosci Lett. 2006 Jan 16;392(3):202-6. doi: 10.1016/j.neulet.2005.09.020. Epub 2005 Oct 3.
4
Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human.ataxin-2的核定位或包涵体形成对于小鼠或人类的脊髓小脑共济失调2型（SCA2）发病机制并非必需。
Nat Genet. 2000 Sep;26(1):44-50. doi: 10.1038/79162.
5
Generation and characterization of Sca2 (ataxin-2) knockout mice.Sca2（共济失调蛋白-2）基因敲除小鼠的产生与鉴定
Biochem Biophys Res Commun. 2006 Jan 6;339(1):17-24. doi: 10.1016/j.bbrc.2005.10.186. Epub 2005 Nov 8.
6
Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals.正常个体和1型脊髓小脑共济失调患者组织中ataxin-1蛋白的表达分析。
Nat Genet. 1995 May;10(1):94-8. doi: 10.1038/ng0595-94.
7
The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression.
Hum Mol Genet. 1998 Aug;7(8):1301-9. doi: 10.1093/hmg/7.8.1301.
8
Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1.位于12号染色体q24.1区域的2型脊髓小脑共济失调（SCA2）人类基因的基因组结构。
Genomics. 1998 Feb 1;47(3):359-64. doi: 10.1006/geno.1997.5131.
9
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.2型脊髓小脑共济失调中正常双等位基因三核苷酸重复序列的中度扩增。
Nat Genet. 1996 Nov;14(3):269-76. doi: 10.1038/ng1196-269.
10
Identification of the physiological promoter for spinocerebellar ataxia 2 gene reveals a CpG island for promoter activity situated into the exon 1 of this gene and provides data about the origin of the nonmethylated state of these types of islands.脊髓小脑性共济失调2型基因生理性启动子的鉴定揭示了该基因外显子1中存在一个具有启动子活性的CpG岛，并提供了有关这些类型岛屿非甲基化状态起源的数据。
Biochem Biophys Res Commun. 1999 Jan 19;254(2):315-8. doi: 10.1006/bbrc.1998.9929.

引用本文的文献

1
Ataxin-2 mediated cell death is dependent on domains downstream of the polyQ repeat.ataxin-2介导的细胞死亡依赖于多聚谷氨酰胺重复序列下游的结构域。
Exp Neurol. 2007 Dec;208(2):207-15. doi: 10.1016/j.expneurol.2007.07.023. Epub 2007 Aug 28.