Che Guanglu, Xiao Xiao, Li Tingyu, Li Jingdong, Gao Linbo
Department of Laboratory Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, P.R. China.
Laboratory of Molecular Translational Medicine, Center for Translational Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, P.R. China.
Curr Neuropharmacol. 2025;23(8):907-917. doi: 10.2174/011570159X340639240905092813.
Neurological disorders are the leading health threats worldwide, characterized by impairments in consciousness, cognition, movement, and sensation, and can even lead to death. UFMylation is a novel post-translational modification (PTM) that serves as an important regulatory factor, promoting the complexity of protein structures and enhancing the diversity and specificity of functions. In UFMylation, ubiquitin-fold modifier 1 (UFM1) is covalently transferred to the primary amine of a lysine residue on the target protein through the synergistic action of three enzymes: the activating enzyme E1 of UFM1, the coupling enzyme E2 of UFM1, and the ligase E3. UFMylation has been proven to be involved in various cellular processes, such as the maintenance of genome homeostasis, autophagy, signal transduction during antiviral responses, cell death, and differentiation. Additionally, a growing number of evidence suggests that polymorphisms in genes related to the UFMylation system are associated with the risk of epileptic encephalopathy, microcephaly, neurodegenerative diseases, and schizophrenia. Therefore, the concept, enzymatic cascade, and biological functions of UFMylation are carefully summarized, along with its potential role in neurological diseases.
神经系统疾病是全球主要的健康威胁,其特征为意识、认知、运动和感觉受损,甚至可能导致死亡。泛素样修饰(UFMylation)是一种新型的翻译后修饰(PTM),作为一种重要的调节因子,可促进蛋白质结构的复杂性,并增强功能的多样性和特异性。在泛素样修饰过程中,泛素样修饰因子1(UFM1)通过三种酶的协同作用共价转移到靶蛋白赖氨酸残基的伯胺上:UFM1的激活酶E1、UFM1的偶联酶E2和连接酶E3。已证明泛素样修饰参与各种细胞过程,如基因组稳态的维持、自噬、抗病毒反应中的信号转导、细胞死亡和分化。此外,越来越多的证据表明,与泛素样修饰系统相关的基因多态性与癫痫性脑病、小头畸形、神经退行性疾病和精神分裂症的风险有关。因此,本文将详细总结泛素样修饰的概念、酶促级联反应和生物学功能,以及其在神经系统疾病中的潜在作用。