Article
Mechanisms underlying morphological and functional changes of cilia in fibroblasts derived from patients bearing ARL3T31A and ARL3T31A/C118F mutations.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 15 Mar 2024
Zhang Xiaoli, Yao Shun, Zhang Lujia, Yang Lin, Yang Mingzhu, Guo Qingge, Li Yan, Wang Zhongfeng, Lei Bo, Jin Xiuxiu
Abstract excerpt
ARL3 is essential for cilia development, and mutations in ARL3 are closely associated with ciliopathies. In a previous study, we observed distinct phenotypes of retinal dystrophy in patients with heterozygous ARL3T31A and compound heterozygous ARL3T31A/C118F mutations, indicating that different mutation types may exert diverse effects on their functions. Here, we generated transformed immortal fibroblast cells...
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