基本信息
浏览量:144
职业迁徙
个人简介
Alzheimer disease (AD), a neurodegenerative disorder, manifests late in life with progressive mental deterioration. The biochemical events leading to the brain degeneration involve the deposition of an abnormal fibrillar protein, designated amyloid b protein or Ab, into the brain parenchyma and cerebral vessel walls. While heterogeneous etiologies and clinical manifestations were observed in different cases, a genetic component has been suggested in certain families worldwide. We found that hereditary cerebral hemorrhage with amyloidosis in patients of Dutch origin (HCHWA-D) also involves deposition of the Alzheimer amyloid. It is an autosomal dominant form of amyloid angiopathy, characterized by massive accumulation of Ab in cerebral vessel walls, leading to recurrent strokes and early death. We discovered the first Ab gene mutation in these patients. Subsequently, additional mutations have been found in patients with early age of onset forms of familial AD (FAD). Our three current research projects are: 1) searching for Ab gene mutations in different FADs and studying their relationship to different clinicopathological presentations; 2) exploring the genetic and biochemical relationship between apolipoprotein E and AD; and 3) studying the mechanism by which Ab gene mutations accelerate amyloid deposition by a) isolating the precursor protein as well as its degradation products from different tissues and transfected tissue culture cell lines and b) developing an animal model for the disease, possibly transgenic mice that carry the mutated Ab gene on which new therapeutic approaches might be tested.
研究兴趣
论文共 169 篇作者统计合作学者相似作者
按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
mag(2010)
引用18浏览0引用
18
0
Yasushi Tomidokoro,Akira Tamaoka, J L Holton, T Lashley,Blas Frangione,T Revesz,Agueda Rostagno,Jorge Ghiso
mag(2010)
引用23浏览0引用
23
0
mag(2009)
引用18浏览0引用
18
0
加载更多
作者统计
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn