肌球蛋白 1e 和肌动蛋白细胞骨架在肾功能和家族性肾病中的作用。

Pei-Ju Liu, Kazi Sayeeda, Cindy Zhuang, Mira Krendel
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摘要

哺乳动物的肾脏负责清除代谢废物,并通过选择性过滤维持体液和电解质的平衡。肌球蛋白 1e(Myo1e)是与选择性肾过滤密切相关的蛋白质之一,肌球蛋白 1e 是一种依赖肌动蛋白的分子马达,存在于特化的肾上皮细胞中,参与肾过滤器的组装和维护。编码 Myo1e(MYO1E)基因的点突变与家族性肾病有关,小鼠 Myo1e 基因敲除会导致选择性滤过功能紊乱。在这篇综述中,我们将讨论肌动蛋白细胞骨架在肾过滤中的作用、Myo1e 的已知和假设功能以及 MYO1E 基因突变对肾功能影响的可能解释。
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Roles of myosin 1e and the actin cytoskeleton in kidney functions and familial kidney disease.

Mammalian kidneys are responsible for removing metabolic waste and maintaining fluid and electrolyte homeostasis via selective filtration. One of the proteins closely linked to selective renal filtration is myosin 1e (Myo1e), an actin-dependent molecular motor found in the specialized kidney epithelial cells involved in the assembly and maintenance of the renal filter. Point mutations in the gene encoding Myo1e, MYO1E, have been linked to familial kidney disease, and Myo1e knockout in mice leads to the disruption of selective filtration. In this review, we discuss the role of the actin cytoskeleton in renal filtration, the known and hypothesized functions of Myo1e, and the possible explanations for the impact of MYO1E mutations on renal function.

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