脆性X综合征
核糖核蛋白
RNA结合蛋白
FMR1型
核糖核酸
生物
遗传学
机制(生物学)
RNA甲基化
甲基化
基因
脆性x
甲基转移酶
认识论
哲学
作者
Yu‐Shan Chen,Jie Dong,Wei Tan,Hui Liu,Siming Zhang,Jia Zou,Yiqi Chen,Suo Bai,Yan Zeng
标识
DOI:10.1016/j.bbr.2023.114586
摘要
Fragile X syndrome (FXS) is a common inherited cause of intellectual disabilities and single-gene cause of autism spectrum disorder (ASD), resulting from the loss of functional fragile X messenger ribonucleoprotein (FMRP), an RNA-binding protein (RBP) encoded by the fragile X messenger ribonucleoprotein 1 (FMR1) gene. Ribonucleic acid (RNA) methylation can lead to developmental diseases, including FXS, through various mechanisms mediated by 5-hydroxymethylcytosine, 5-methylcytosine, N6-methyladenosine, etc. Emerging evidence suggests that modifications of some RNA species have been linked to FXS. However, the underlying pathological mechanism has yet to be elucidated. In this review, we reviewed the implication of RNA modification in FXS and summarized its specific characteristics for facilitating the identification of new therapeutic targets.
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