^P525LFused-in-Sarcoma (FUS) mutation is associated with a specific amyotrophic lateral sclerosis (ALS) phenotype characterized by a juvenile-onset and a severe course.¹ This harmful point mutation is located in the nuclear localization signal (NLS) domain at the protein C-terminal.² Although wild-type FUS protein is expressed almost exclusively in the nucleus, the ^P525LFUS mutation leads to a protein mislocalization into the cytoplasm^3,4 because of its loss of capacity to bind its transporter karyopherin-2 and to be transferred back to the nucleus.³

中文翻译：

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P525LFUS的亚细胞表达差异作为ALS表型转化的可能生物标记

^P525L融合型肉瘤（FUS）突变与特定的肌萎缩性侧索硬化症（ALS）表型有关，该表型的特征是少年发作和严重病程。¹此有害点突变位于蛋白C端的核定位信号（NLS）域中。²尽管野生型FUS蛋白几乎只在细胞核中表达，但^P525L FUS突变会导致蛋白质^误定位到细胞质中^3,4，因为它失去了结合转运蛋白karyopherin-2并转移回细胞核的能力。核。³