Type 2 Diabetes Variants in the SLC16A11 Coding Region Are Not Loss-of-Function Mutations
文献类型：期刊论文
| 作者 | Zhao, Yongxu2; Feng, Zhuanghui2; Ding, Qiurong2; Ding, Qiurong1; , |
| 刊名 | CELL REPORTS
 |
| 出版日期 | 2019 |
| 卷号 | 29期号:3页码:781-784 |
| ISSN号 | 2211-1247 |
| DOI | 10.1016/j.celrep.2019.09.022 |
| 文献子类 | Article |
| 英文摘要 | This Matters Arising Response paper addresses the Hoch et al. (2019 )Matters Arising paper published concurrently in this issue of Cell Reports. The genetic study in humans revealed a strong association of DNA variants in the SLC16A11 coding region with type 2 diabetes mellitus (T2DM). However, how these T2D variants affect the function of SLC16A11 remains controversial. In Zhao et al, with studies using genetic knockout mouse models and in vivo gene reconstitution experiments, we demonstrated gain of aberrant functions of mutant SLC16A11-carrying T2D variants, which cause liver steatosis and insulin resistance. Hoch et al. (2019) raise concerns regarding the animal models and experimental settings used in the study. Here, we address their concerns and emphasize that discoveries from the physiological studies of SLC16A11 by using mouse models disagree with the previous proposal by Rusu et al. (2017) that "therapeutics that enhance SLC16A11 levels or activity may be beneficial for T2D". |
| 学科主题 | Biochemistry & Molecular Biology ; Biotechnology & Applied Microbiology ; Genetics & Heredity ; Research & Experimental Medicine |
| WOS关键词 | MODIFIED T-CELLS ; SEVERE COMBINED IMMUNODEFICIENCY ; ADENOVIRUS-MEDIATED DELIVERY ; PHASE 1/2 TRIAL ; OPEN-LABEL ; PARKINSONS-DISEASE ; DOSE-ESCALATION ; CLINICAL-TRIAL ; MUSCULAR-DYSTROPHY ; LENTIVIRAL VECTOR |
| 语种 | 英语 |
| CSCD记录号 | CSCD:31618644 |
| WOS记录号 | WOS:000490140600020 |
| 出版者 | CELL PRESS |
| 版本 | 出版稿 |
| 源URL | [http://202.127.25.144/handle/331004/972]  |
| 专题 | 中国科学院上海生命科学研究院营养科学研究所 |
| 作者单位 | 1.Chinese Acad Sci, Inst Stem Cell & Regenerat, Beijing 100101, Peoples R China, 2.Chinese Acad Sci, Univ Chinese Acad Sci, CAS Key Lab Nutr Metab & Food Safety, Shanghai Inst Nutr & Hlth,Shanghai Inst Biol Sci, Beijing 200031, Peoples R China; |
| 推荐引用方式 GB/T 7714 | Zhao, Yongxu,Feng, Zhuanghui,Ding, Qiurong,et al. Type 2 Diabetes Variants in the SLC16A11 Coding Region Are Not Loss-of-Function Mutations[J]. CELL REPORTS,2019,29(3):781-784. |
| APA | Zhao, Yongxu,Feng, Zhuanghui,Ding, Qiurong,Ding, Qiurong,&,.(2019).Type 2 Diabetes Variants in the SLC16A11 Coding Region Are Not Loss-of-Function Mutations.CELL REPORTS,29(3),781-784. |
| MLA | Zhao, Yongxu,et al."Type 2 Diabetes Variants in the SLC16A11 Coding Region Are Not Loss-of-Function Mutations".CELL REPORTS 29.3(2019):781-784. |
入库方式： OAI收割
来源：上海营养与健康研究所
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