Pars2-flox 基因敲除小鼠

1. Licchetta, Laura, Di Giorgi, Lucia, Santucci, Margherita, Carelli, Valerio, Bisulli, Francesca. 2023. Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep. In Molecular genetics & genomic medicine, 12, e2311. doi:10.1002/mgg3.2311. https://pubmed.ncbi.nlm.nih.gov/38087948/

2. Mizuguchi, Takeshi, Nakashima, Mitsuko, Kato, Mitsuhiro, Saitsu, Hirotomo, Matsumoto, Naomichi. 2017. PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. In Journal of human genetics, 62, 525-529. doi:10.1038/jhg.2016.163. https://pubmed.ncbi.nlm.nih.gov/28077841/

3. Hu, Xuyun, Guo, Ruolan, Hao, Chanjuan, Hao, Lijuan. 2023. Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75. In Gene, 894, 147985. doi:10.1016/j.gene.2023.147985. https://pubmed.ncbi.nlm.nih.gov/37956963/