Yen SH, Hutton M, DeTure M, Ko LW, Nacharaju P (1999) Fibrillo- genesis of tau: insights from tau missense mutations in FTDP-17. Brain Pathol 9:695-705.Yen, S. H., Hutton, M., DeTure, M., Ko, L. W., and Nacharaju, P. (1999) Fibrillogenesis of tau: insights from tau...
FTDP-17 是被称为 tau 病的几种相关疾病之一,其特征是大脑中 tau 异常积聚。 17号染色体相关的额颞叶痴呆合并帕金森综合征基因检测如何阻断疾病遗传 17号染色体相关的额颞叶痴呆合并帕金森综合征以常染色体显性遗传模式遗传,这意味着每个细胞中改变基因的一个拷贝就足以引起这种疾病。佳学基因在通过基因检测后为受检者...
O卷 第 6期 ,一一 、 :综述与编译 i ～一一一 — FTDP-17与 Tau基因突变 上海医科大学医学神经生物学国家重点实验室(200032) 汪青 朱粹青综述 一 241一 摘要 异常磷酸化 tau蛋白积聚 ,甚至形成神经原纤维缠结是阿尔茨海默病 等神经退行性疾病的特 征性 病理改变 之一 ,新近 在 l7号 染色 体 连锁 的额...
It is caused by mutations in the tau gene, which encodes a microtubule-binding protein. Over 100 families with 38 different mutations in the tau gene have been identified worldwide. The phenotype of FTDP-17 varies not only between families carrying different mutations but also between and within...
Mutations in microtubule-associated protein tau gene (MAPT) cause frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17). Here we describe a patient with FTDP-17 and a novel missense mutation in exon 13 of MAPT, p.E372G. We compare clinicopathologic features of this patient...
FTDP-17doi:10.1007/978-1-4020-6754-9_6276Pick disease, tauSpringer NetherlandsEncyclopedia of Genetics Genomics Proteomics & Informatics
FTDP-17是一种常染色体显性遗传病,其致病基因定位于第17号染色体上,是由于编码微管相关蛋白tau基因突变,从而引起tau的结合或tau异构体的构成发生改变,进而产生以进行性痴呆、帕金森综合征等为主要表现的一种独特性疾病.本文将对其临床特点、分子遗传学特点以及神经病理学特点进行综述.关键...
Mutation-Specific Functional Impairments in Distinct Tau Isoforms of Hereditary FTDP-17. BI, Geschwind DH, Bird TD, McKeel D, Goate A, et al .: Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Scien... Hong,Ming,Zhukareva,... - 《Science》 被引量:...
FTDP-17 Mutations Compromise the Ability of Tau to Regulate Microtubule Dynamics in Cells The neural microtubule-associated protein Tau binds directly to microtubules and regulates their dynamic behavior. In addition to being required for normal... JM Bunker,K Kamath,L Wilson,... - 《Journal of ...
The majority of the currently known mutations in coding region occur within the microtubule-binding region of tau gene. Most known mutations in non-coding regions affect the splicing of exon 10 [4]. The pathogenetic mechanisms in FTDP-17 are thought to be related to the altered proportion of ...