Mmab-KO 基因敲除小鼠

1. Mezzavilla, Massimo, Moura, Ronald Rodrigues, Celsi, Fulvio, Tricarico, Paola Maura, Crovella, Sergio. 2017. MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency. In Rheumatology international, 38, 121-127. doi:10.1007/s00296-017-3890-3. https://pubmed.ncbi.nlm.nih.gov/29234874/

2. Goedeke, Leigh, Canfrán-Duque, Alberto, Rotllan, Noemi, Suárez, Yajaira, Fernández-Hernando, Carlos. 2021. MMAB promotes negative feedback control of cholesterol homeostasis. In Nature communications, 12, 6448. doi:10.1038/s41467-021-26787-7. https://pubmed.ncbi.nlm.nih.gov/34750386/

3. Williams, Paul T. 2020. Quantile-Dependent Expressivity and Gene-Lifestyle Interactions Involving High-Density Lipoprotein Cholesterol. In Lifestyle genomics, 14, 1-19. doi:10.1159/000511421. https://pubmed.ncbi.nlm.nih.gov/33296900/

4. Illson, Margaret L, Dempsey-Nunez, Laura, Kent, Jana, Wittwer, Carl T, Rosenblatt, David S. 2013. High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria. In Molecular genetics and metabolism, 110, 86-9. doi:10.1016/j.ymgme.2013.04.020. https://pubmed.ncbi.nlm.nih.gov/23707710/

5. Forny, Patrick, Plessl, Tanja, Frei, Caroline, Froese, D Sean, Baumgartner, Matthias R. 2021. Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria. In Human genetics, 141, 1253-1267. doi:10.1007/s00439-021-02398-6. https://pubmed.ncbi.nlm.nih.gov/34796408/

6. Tan, Zhimi, Jia, Xiaofang, Ma, Fang, Liu, Li, Zhang, Lijun. 2017. Increased MMAB level in mitochondria as a novel biomarker of hepatotoxicity induced by Efavirenz. In PloS one, 12, e0188366. doi:10.1371/journal.pone.0188366. https://pubmed.ncbi.nlm.nih.gov/29190729/

7. Miao, Liu, Yin, Rui-Xing, Huang, Feng, Cao, Xiao-Li, Wu, Jin-Zhen. 2017. The effect of MVK-MMAB variants, their haplotypes and G×E interactions on serum lipid levels and the risk of coronary heart disease and ischemic stroke. In Oncotarget, 8, 72801-72817. doi:10.18632/oncotarget.20349. https://pubmed.ncbi.nlm.nih.gov/29069827/

8. Fogarty, Marie P, Xiao, Rui, Prokunina-Olsson, Ludmila, Scott, Laura J, Mohlke, Karen L. 2010. Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK. In Human molecular genetics, 19, 1921-9. doi:10.1093/hmg/ddq067. https://pubmed.ncbi.nlm.nih.gov/20159775/

9. Liu, Yu-Peng, Wang, Hai-Jun, Wu, Tong-Fei, Wang, Qiao, Yang, Yan-Ling. . [A Chinese boy with methylmalonic aciduria cblB type and a novel mutation in the MMAB gene]. In Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 17, 172-5. doi:. https://pubmed.ncbi.nlm.nih.gov/25760844/

10. Junyent, Mireia, Parnell, Laurence D, Lai, Chao-Qiang, Borecki, Ingrid, Ordovás, José M. 2009. Novel variants at KCTD10, MVK, and MMAB genes interact with dietary carbohydrates to modulate HDL-cholesterol concentrations in the Genetics of Lipid Lowering Drugs and Diet Network Study. In The American journal of clinical nutrition, 90, 686-94. doi:10.3945/ajcn.2009.27738. https://pubmed.ncbi.nlm.nih.gov/19605566/