Pccb-KO 基因敲除小鼠

1. Zhang, Wendiao, Zhang, Ming, Xu, Zhenhong, Chen, Chao, Meng, Qingtuan. 2023. Human forebrain organoid-based multi-omics analyses of PCCB as a schizophrenia associated gene linked to GABAergic pathways. In Nature communications, 14, 5176. doi:10.1038/s41467-023-40861-2. https://pubmed.ncbi.nlm.nih.gov/37620341/

2. Li, Yingxuan, Wang, Miaomiao, Huang, Zhaoyang, Ye, Jing, Wang, Yuping. 2022. Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review. In BMC medical genomics, 15, 59. doi:10.1186/s12920-022-01202-2. https://pubmed.ncbi.nlm.nih.gov/35296328/

3. Yang, Xiaoxuan, Li, Dongyan, Tu, Chaofeng, Du, Juan, Zhang, Qianjun. 2021. Novel variants of the PCCB gene in Chinese patients with propionic acidemia. In Clinica chimica acta; international journal of clinical chemistry, 519, 18-25. doi:10.1016/j.cca.2021.03.019. https://pubmed.ncbi.nlm.nih.gov/33798502/

4. Marchuk, Hannah, Wang, You, Ladd, Zachary Alec, Chen, Xiaoxin, Zhang, Guo-Fang. 2023. Pathophysiological mechanisms of complications associated with propionic acidemia. In Pharmacology & therapeutics, 249, 108501. doi:10.1016/j.pharmthera.2023.108501. https://pubmed.ncbi.nlm.nih.gov/37482098/

5. Ji, Guang, Liu, Yaling, Song, Xueqin, Li, Zhenfei. 2022. Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia. In Frontiers in genetics, 13, 807822. doi:10.3389/fgene.2022.807822. https://pubmed.ncbi.nlm.nih.gov/35368667/

6. Ugarte, M, Pérez-Cerdá, C, Rodríguez-Pombo, P, Ohura, T, Gravel, R A. . Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. In Human mutation, 14, 275-82. doi:. https://pubmed.ncbi.nlm.nih.gov/10502773/

7. Chapman, Kimberly A, Ostrovsky, Julian, Rao, Meera, Bennett, Michael J, Falk, Marni J. 2017. Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism. In Journal of inherited metabolic disease, 41, 157-168. doi:10.1007/s10545-017-0111-x. https://pubmed.ncbi.nlm.nih.gov/29159707/

8. Chen, Zhanling, Wen, Pengqiang, Wang, Guobing, Shang, Yue, Li, Chengrong. . [Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia]. In Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 32, 26-30. doi:10.3760/cma.j.issn.1003-9406.2015.01.006. https://pubmed.ncbi.nlm.nih.gov/25636094/

9. Fulgencio-Covián, Alejandro, Álvarez, Mar, Pepers, Barry A, Desviat, Lourdes R, Richard, Eva. 2020. Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology. In Stem cell research, 49, 102055. doi:10.1016/j.scr.2020.102055. https://pubmed.ncbi.nlm.nih.gov/33128956/

10. Spangsberg Petersen, Ulrika Simone, Dembic, Maja, Martínez-Pizarro, Ainhoa, Desviat, Lourdes Ruiz, Andresen, Brage Storstein. 2023. Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia. In Molecular therapy. Nucleic acids, 35, 102101. doi:10.1016/j.omtn.2023.102101. https://pubmed.ncbi.nlm.nih.gov/38204914/