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作 者:Rita J.Serrano Robert J.Bryson-Richardson
机构地区:[1]School of Biological Sciences,Monash University,Clayton,VIC,Australia
出 处:《Neural Regeneration Research》2026年第2期667-668,共2页中国神经再生研究(英文版)
摘 要:Ufmylation is an ubiquitin-like post-translational modification characterized by the covalent binding of mature UFM1 to target proteins.Although the consequences of ufmylation on target proteins are not fully understood,its importance is evident from the disorders resulting from its dysfunction.Numerous case reports have established a link between biallelic loss-of-function and/or hypomorphic variants in ufmylation-related genes and a spectrum of pediatric neurodevelopmental disorders.
关 键 词:target proteins post translational modification pediatric neurodevelopmental disorders covalent binding mature ufm target proteinsalthough biallelic loss function ufmylation hypomorphic variants neurodevelopmental disorders
分 类 号:R741[医药卫生—神经病学与精神病学]
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