Profilin1 biology and its mutation, actin(g) in disease

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• 作者：Duah Alkam ; Ezra Z. Feldman ; Awantika Singh…
• 关键词：PFN1G118V ; PLP domain ; Actin ; binding domain ; Polymerization ; Axonal dynamics ; PFN1 aggregation ; PFN1 instability ; Neurodegeneration ; Motor neuron disease
• 刊名：Cellular and Molecular Life Sciences
• 出版年：2017
• 出版时间：March 2017
• 年：2017
• 卷：74
• 期：6
• 页码：967-981
• 全文大小：
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Cell Biology; Biomedicine, general; Life Sciences, general; Biochemistry, general;
• 出版者：Springer International Publishing
• ISSN：1420-9071
• 卷排序：74

文摘

Profilins were discovered in the 1970s 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.