期刊
FEBS LETTERS
卷 590, 期 6, 页码 685-695出版社
WILEY-BLACKWELL
DOI: 10.1002/1873-3468.12101
关键词
actin; actinin-1; ACTN1; alpha-actinin; congenital macrothrombocytopenia; macrothrombocytopenia; alpha-actinin
资金
- Science Foundation Ireland grant [09/IN1/B2629]
- Marie Curie Initial Training Network: MUZIC [238423]
- Austrian Science Fund (FWF) Project [I525, I1593, P22276, P19060]
- Federal Ministry of Economy, Family and Youth through the initiative Laura Bassi Centres of Expertise [253275]
- University of Vienna
- Irish Research Council through a Government of Ireland Postgraduate Scholarship
- Austrian Science Fund (FWF) [P19060, I525, I1593] Funding Source: Austrian Science Fund (FWF)
Mutations in the actin cross-linking protein actinin-1 were recently linked to dominantly inherited congenital macrothrombocytopenia. Here, we report that several disease-associated mutations that are located within the actinin-1 actin-binding domain cause increased binding of actinin-1 to actin filaments and enhance filament bundling in vitro. These actinin-1 mutants are also more stably associated with the cytoskeleton in cultured cells, as assessed by biochemical fractionation and fluorescence recovery after photobleaching experiments. For two mutations the disruption of contacts between the calponin homology domains within the actinin actin-binding domain may explain increased filament binding - providing mechanistic and structural insights into the basis of actinin-1 dysfunction in congenital macrothrombocytopenia.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据