Profilin1 biology and its mutation, actin(g) in disease.
Profilin1 biology and its mutation, actin(g) in disease.
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DOI：
10.1007/s00018-016-2372-1
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发表时间：
2017-03
期刊：
影响因子：
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通讯作者：
Kiaei M
中科院分区：
文献类型：
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作者：
Alkam D;Feldman EZ;Singh A;Kiaei M
Profilins是在20世纪70年代S发现的，并因其重要的生理作用而被广泛研究。Profilin1是最重要的异构体，由于其在细胞骨架、细胞信号以及与癌症和血管肥大等疾病的联系中的作用而引起了特别的关注。最近，Profilin1基因的多个突变被认为与肌萎缩侧索硬化症(ALS)有关。在这篇综述中，我们将讨论profilin1的生理和病理作用。我们将进一步强调Profilin 1失调引起的细胞骨架功能和功能障碍。最后，我们将讨论突变的profilin1在各种疾病中的意义，重点是它在ALS发病机制中的作用。
Profilins were discovered in the 1970’s and were extensively studied for their significant physiological roles. Profilin1 is the most prominent isoform and has drawn special attention due to its role in the cytoskeleton, cell signaling, and its link to conditions such as cancer and vascular hypertrophy. Recently, multiple mutations in the profilin1 gene were linked to Amyotrophic Lateral Sclerosis (ALS). In this review, we will discuss the physiological and pathological roles of profilin1. We will further highlight the cytoskeletal function and dysfunction caused by profilin1 dysregulation. Finally, we will discuss the implications of mutant profilin1 in various diseases with an emphasis on its contribution to the pathogenesis of ALS.