Tuba4a-KO 基因敲除小鼠

1. Benkirane, Mehdi, Bonhomme, Marion, Morsy, Heba, Debant, Anne, Koenig, Michel. . De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity. In Brain : a journal of neurology, 147, 3681-3689. doi:10.1093/brain/awae193. https://pubmed.ncbi.nlm.nih.gov/38884572/

2. Li, Qun, Zhao, Lin, Zeng, Yang, Wang, Lei, Sang, Qing. 2023. Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects. In Genome biology, 24, 68. doi:10.1186/s13059-023-02894-0. https://pubmed.ncbi.nlm.nih.gov/37024973/

3. Torella, Annalaura, Ricca, Ivana, Piluso, Giulio, Nigro, Vincenzo, Filla, Alessandro. 2023. A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A. In Journal of neurology, 270, 5057-5063. doi:10.1007/s00415-023-11816-w. https://pubmed.ncbi.nlm.nih.gov/37418012/

4. Wan, Yalan, Zhou, Chao, Chang, Xingzhi, Deng, Jianwen, Wang, Zhaoxia. 2024. Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation. In Journal of medical genetics, 61, 626-632. doi:10.1136/jmg-2023-109786. https://pubmed.ncbi.nlm.nih.gov/38413182/