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Updated: Jun 8, 2025

Aip1p Dynamics Are Altered by the R256H Mutation in Actin
08:57

Aip1p Dynamics Are Altered by the R256H Mutation in Actin

Published on: July 30, 2014

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扩展性心肌病相关的骨肌动蛋白 (ACTA1) 突变R256H破坏了动蛋白的结构和功能,并导致心肌细胞的低收缩性

Ankit Garg1,2,3, Silvia Jansen4, Lina Greenberg2

  • 1Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD 21205.

Proceedings of the National Academy of Sciences of the United States of America
|November 6, 2024
PubMed
概括

骨肌动蛋白 (ACTA1) 的罕见突变导致扩张性心肌病,因为它破坏了心肌收缩性,即使蛋白质水平低. 这种ACTA1 R256H变种会损害心脏功能,从而建立了ACTA1和心脏病之间的联系.

关键词:
这就是Actin Actin.心肌病性心脏病 - 心肌病性心脏病收缩性 收缩性的肌肉 肌肉 肌肉 肌肉 肌肉

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