Article
YIPF5 (p.W218R) mutation induced primary microcephaly in rabbits.
Neurobiology of disease - 15 Jun 2023
Liu Xin, Yang Jie, Li Zhaoyi, Liu Ruonan, Wu Xinyu, Zhang Zhongtian, Lai Liangxue, Li Zhanjun, Song Yuning
Abstract excerpt
Primary microcephaly (PMCPH) is a rare autosomal recessive neurodevelopmental disorder with a global prevalence of PMCPH ranging from 0.0013% to 0.15%. Recently, a homozygous missense mutation in YIPF5 (p.W218R) was identified as a causative mutation of severe microcephaly. In this study, we constructed a rabbit PMCPH model harboring YIPF5 (p.W218R) mutation using SpRY-ABEmax mediated base substitution, which...
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