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Updated: Sep 13, 2025

Aip1p Dynamics Are Altered by the R256H Mutation in Actin
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Aip1p Dynamics Are Altered by the R256H Mutation in Actin

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在Baraitser-Winter综合征1型中β-Actin缺乏会扰乱T细胞功能和免疫调节:在Actinopathies中针对性治疗的影响

Zahala Bar-On1, Or Reuven1, Atar Lev2

  • 1The Lautenberg Center for Immunology and Cancer Research, The Institute for Medical Research Israel-Canada (IMRIC), Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

Journal of clinical immunology
|August 1, 2025
PubMed
概括

贝莱泽-温特综合征1型 (BRWS1) 与导致免疫缺陷的ACTB突变有关. 这项研究揭示了T细胞功能障碍,并建议dupilumab作为这种动因病驱动疾病的潜在治疗方法.

关键词:
在ACTB中,它是ACTB.行为性病变 (Actinopathies) 是一种行为性病变.巴拉茨尔 - 温特综合征1型免疫调节 免疫调节在T细胞,T细胞.这是一种β-Actin.

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Actin filaments (F-actin) are composed of actin subunits. The dissociation of actin monomers can occur from either end of F-actin. The rate of dissociation is faster from the minus-end or the pointed end, where the actin subunits exist with a bound ADP, together known as ADP-actin. The depolymerization of F-actin is aided by proteins, including the actin-depolymerizing factor (ADF) and cofilin family of proteins, gelsolin, and glia maturation factor (GMF).
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The high-order actin...
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