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Emerging roles of TRIO and F-actin-binding protein in human diseases

机译:TRIO和F-肌动蛋白结合蛋白在人类疾病中的新兴作用

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摘要

TRIO and F-actin-binding protein (TRIOBP) also referred to as Tara, was originally isolated as a cytoskeleton remodeling protein. TRIOBP-1 is important for regulating F-actin filament reorganization. TRIOBP variants are broadly classified as variant-1 or − 4 and do not share exons. TRIOBP variant-5 contains all exons. Earlier studies indicated that TRIOBP-4/5 mutation is a pivotal element of autosomal recessive nonsyndromic hearing loss. However, recent studies provide clues that TRIOBP variants are associated with other human diseases including cancer and brain diseases. In this review, recent functional studies focusing on TRIOBP variants and its possible disease models are described.
机译:TRIO和F-肌动蛋白结合蛋白(TRIOBP)也称为Tara,最初被分离为细胞骨架重塑蛋白。 TRIOBP-1对于调节F-肌动蛋白丝重组非常重要。 TRIOBP变体大致分类为变体1或-4,并且不共享外显子。 TRIOBPvariant-5包含所有外显子。较早的研究表明TRIOBP-4 / 5突变是常染色体隐性非综合征性听力损失的关键因素。但是,最近的研究提供了线索,TRIOBP变体与其他人类疾病(包括癌症和脑病)有关。在这篇综述中,描述了侧重于TRIOPP变体及其可能的疾病模型的近期功能研究。

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