Dysregulation of the ubiquitin-proteasome system in von Hippel-Lindau syndrome: molecular insights and clinical perspectives

von Hippel-Lindau综合征中泛素-蛋白酶体系统的失调:分子机制和临床展望

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Abstract

von Hippel-Lindau (VHL) syndrome is an autosomal dominant tumor susceptibility syndrome whose pathogenesis is closely associated with dysfunction of the ubiquitin-proteasome system (UPS). When core UPS components-E1, E2, E3 enzymes, and the proteasome-malfunction, the intracellular protein homeostasis network becomes severely disrupted, thereby driving tumorigenesis. This discovery also opens a novel perspective for addressing the therapeutic challenges of VHL syndrome. This review systematically analyzes the mechanisms of abnormally expressed enzymes within the UPS in VHL syndrome and thoroughly examines the progress in therapeutic strategies targeting various UPS components. It aims to provide a theoretical foundation for understanding the molecular mechanisms of this disease and developing precision treatment approaches.

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